potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1) - coding DNA reference sequence

(used for variant description)

(last modified October 23, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_001014797.2 in the KCNMA1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012270.1, covering KCNMA1 transcript NM_001014797.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5057
    cgccaggtcgcgcacagcgccccgagcccaggcgcctccccgcccccctcccgcgct       c.-121

 .         .         .         .         .         .                g.5117
 ccgcggcggcggcggcggcggcagcagtagcagcaatatggctgttgatgggtgtttggg       c.-61

 .         .         .         .         .         .                g.5177
 gtggcgctggcggcgggaggagctcccccgagcccctgcgccggctgcccgttgctagct       c.-1

          .         .         .         .         .         .       g.5237
 ATGGCAAATGGTGGCGGCGGCGGCGGCGGCAGCAGCGGCGGCGGCGGCGGCGGCGGAGGC       c.60
 M  A  N  G  G  G  G  G  G  G  S  S  G  G  G  G  G  G  G  G         p.20

          .         .         .         .         .         .       g.5297
 AGCAGTCTTAGAATGAGTAGCAATATCCACGCGAACCATCTCAGCCTAGACGCGTCCTCC       c.120
 S  S  L  R  M  S  S  N  I  H  A  N  H  L  S  L  D  A  S  S         p.40

          .         .         .         .         .         .       g.5357
 TCCTCCTCCTCCTCCTCTTCCTCTTCTTCTTCTTCCTCCTCCTCTTCCTCCTCGTCCTCG       c.180
 S  S  S  S  S  S  S  S  S  S  S  S  S  S  S  S  S  S  S  S         p.60

          .         .         .         .         .         .       g.5417
 GTCCACGAGCCCAAGATGGATGCGCTCATCATCCCGGTGACCATGGAGGTGCCGTGCGAC       c.240
 V  H  E  P  K  M  D  A  L  I  I  P  V  T  M  E  V  P  C  D         p.80

          .         .         .         .         .         .       g.5477
 AGCCGGGGCCAACGCATGTGGTGGGCTTTCCTGGCCTCCTCCATGGTGACTTTCTTCGGG       c.300
 S  R  G  Q  R  M  W  W  A  F  L  A  S  S  M  V  T  F  F  G         p.100

          .         .         .         .         .         .       g.5537
 GGCCTCTTCATCATCTTGCTCTGGCGGACGCTCAAGTACCTGTGGACCGTGTGCTGCCAC       c.360
 G  L  F  I  I  L  L  W  R  T  L  K  Y  L  W  T  V  C  C  H         p.120

          .         | 02         .         .         .         .    g.238838
 TGCGGGGGCAAGACGAAG | GAGGCCCAGAAGATTAACAATGGCTCAAGCCAGGCGGATGGC    c.420
 C  G  G  K  T  K   | E  A  Q  K  I  N  N  G  S  S  Q  A  D  G      p.140

          .         .         .         .         .         .       g.238898
 ACTCTCAAACCAGTGGATGAAAAAGAGGAGGCAGTGGCCGCCGAGGTCGGCTGGATGACC       c.480
 T  L  K  P  V  D  E  K  E  E  A  V  A  A  E  V  G  W  M  T         p.160

          .         .         .         .         .         .       g.238958
 TCCGTGAAGGACTGGGCGGGGGTGATGATATCCGCCCAGACACTGACTGGCAGAGTCCTG       c.540
 S  V  K  D  W  A  G  V  M  I  S  A  Q  T  L  T  G  R  V  L         p.180

  | 03       .         .         .         .         .         .    g.391623
  | GTTGTCTTAGTCTTTGCTCTCAGCATCGGTGCACTTGTAATATACTTCATAGATTCATCA    c.600
  | V  V  L  V  F  A  L  S  I  G  A  L  V  I  Y  F  I  D  S  S      p.200

    | 04     .         .         .         .         .         .    g.457961
 AA | CCCAATAGAATCCTGCCAGAATTTCTACAAAGATTTCACATTACAGATCGACATGGCT    c.660
 N  |  P  I  E  S  C  Q  N  F  Y  K  D  F  T  L  Q  I  D  M  A      p.220

          .         .         .       | 05 .         .         .    g.459311
 TTCAACGTGTTCTTCCTTCTCTACTTCGGCTTGCGG | TTTATTGCAGCCAACGATAAATTG    c.720
 F  N  V  F  F  L  L  Y  F  G  L  R   | F  I  A  A  N  D  K  L      p.240

          .         .         .         .         .         .       g.459371
 TGGTTCTGGCTGGAAGTGAACTCTGTAGTGGATTTCTTCACGGTGCCCCCCGTGTTTGTG       c.780
 W  F  W  L  E  V  N  S  V  V  D  F  F  T  V  P  P  V  F  V         p.260

          .         .         | 06         .         .         .    g.521803
 TCTGTGTACTTAAACAGAAGTTGGCTTG | GTTTGAGATTTTTAAGAGCTCTGAGACTGATA    c.840
 S  V  Y  L  N  R  S  W  L  G |   L  R  F  L  R  A  L  R  L  I      p.280

          .         .         .         .     | 07   .         .    g.530393
 CAGTTTTCAGAAATTTTGCAGTTTCTGAATATTCTTAAAACAAG | TAATTCCATCAAGCTG    c.900
 Q  F  S  E  I  L  Q  F  L  N  I  L  K  T  S  |  N  S  I  K  L      p.300

          .         .         .         .         .         .       g.530453
 GTGAATCTGCTCTCCATATTTATCAGCACGTGGCTGACTGCAGCCGGGTTCATCCATTTG       c.960
 V  N  L  L  S  I  F  I  S  T  W  L  T  A  A  G  F  I  H  L         p.320

  | 08       .         .         .         .         .         .    g.532536
  | GTGGAGAATTCAGGGGACCCATGGGAAAATTTCCAAAACAACCAGGCTCTCACCTACTGG    c.1020
  | V  E  N  S  G  D  P  W  E  N  F  Q  N  N  Q  A  L  T  Y  W      p.340

          .         .         .         .         .         .       g.532596
 GAATGTGTCTATTTACTCATGGTCACAATGTCCACCGTTGGTTATGGGGATGTTTATGCA       c.1080
 E  C  V  Y  L  L  M  V  T  M  S  T  V  G  Y  G  D  V  Y  A         p.360

          .         .         .         .         .  | 09      .    g.534256
 AAAACCACACTTGGGCGCCTCTTCATGGTCTTCTTCATCCTCGGGGGACTG | GCCATGTTT    c.1140
 K  T  T  L  G  R  L  F  M  V  F  F  I  L  G  G  L   | A  M  F      p.380

          .         .         .         .         .         .       g.534316
 GCCAGCTACGTCCCTGAAATCATAGAGTTAATAGGAAACCGCAAGAAATACGGGGGCTCC       c.1200
 A  S  Y  V  P  E  I  I  E  L  I  G  N  R  K  K  Y  G  G  S         p.400

          .         .    | 10    .         .         .         .    g.552346
 TATAGTGCGGTTAGTGGAAGAAA | GCACATTGTGGTCTGCGGACACATCACTCTGGAGAGT    c.1260
 Y  S  A  V  S  G  R  K  |  H  I  V  V  C  G  H  I  T  L  E  S      p.420

          .         .         .         .         .         .       g.552406
 GTTTCCAACTTCCTGAAGGACTTTCTGCACAAGGACCGGGATGACGTCAATGTGGAGATC       c.1320
 V  S  N  F  L  K  D  F  L  H  K  D  R  D  D  V  N  V  E  I         p.440

          .     | 11   .         .         .         .         .    g.556272
 GTTTTTCTTCACAA | CATCTCCCCCAACCTGGAGCTTGAAGCTCTGTTCAAACGACATTTT    c.1380
 V  F  L  H  N  |  I  S  P  N  L  E  L  E  A  L  F  K  R  H  F      p.460

          .         .         .         .         .         .       g.556332
 ACTCAGGTGGAATTTTATCAGGGTTCCGTCCTCAATCCACATGATCTTGCAAGAGTCAAG       c.1440
 T  Q  V  E  F  Y  Q  G  S  V  L  N  P  H  D  L  A  R  V  K         p.480

  | 12       .         .         .         .         .         .    g.558160
  | ATAGAGTCAGCAGATGCATGCCTGATCCTTGCCAACAAGTACTGCGCTGACCCGGATGCG    c.1500
  | I  E  S  A  D  A  C  L  I  L  A  N  K  Y  C  A  D  P  D  A      p.500

          .         .    | 13    .         .         .         .    g.563306
 GAGGATGCCTCGAATATCATGAG | AGTAATCTCCATAAAGAACTACCATCCGAAGATAAGA    c.1560
 E  D  A  S  N  I  M  R  |  V  I  S  I  K  N  Y  H  P  K  I  R      p.520

          .         .         .    | 14    .         .         .    g.569594
 ATCATCACTCAAATGCTGCAGTATCACAACAAG | GCCCATCTGCTAAACATCCCGAGCTGG    c.1620
 I  I  T  Q  M  L  Q  Y  H  N  K   | A  H  L  L  N  I  P  S  W      p.540

          .         .         .         .         .         .       g.569654
 AATTGGAAAGAAGGTGATGACGCAATCTGCCTCGCAGAGTTGAAGTTGGGCTTCATAGCC       c.1680
 N  W  K  E  G  D  D  A  I  C  L  A  E  L  K  L  G  F  I  A         p.560

          .         .         .         .         .         .       g.569714
 CAGAGCTGCCTGGCTCAAGGCCTCTCCACCATGCTTGCCAACCTCTTCTCCATGAGGTCA       c.1740
 Q  S  C  L  A  Q  G  L  S  T  M  L  A  N  L  F  S  M  R  S         p.580

           | 15        .         .         .         .         .    g.603233
 TTCATAAAG | ATTGAGGAAGACACATGGCAGAAATACTACTTGGAAGGAGTCTCAAATGAA    c.1800
 F  I  K   | I  E  E  D  T  W  Q  K  Y  Y  L  E  G  V  S  N  E      p.600

          .         .         .         .         .          | 16    g.614929
 ATGTACACAGAATATCTCTCCAGTGCCTTCGTGGGTCTGTCCTTCCCTACTGTTTGTGA | G    c.1860
 M  Y  T  E  Y  L  S  S  A  F  V  G  L  S  F  P  T  V  C  E  |      p.620

          .         .         .         .         .         .       g.614989
 CTGTGTTTTGTGAAGCTCAAGCTCCTAATGATAGCCATTGAGTACAAGTCTGCCAACCGA       c.1920
 L  C  F  V  K  L  K  L  L  M  I  A  I  E  Y  K  S  A  N  R         p.640

          | 17         . | 18       .         .         .         . g.623760
 GAGAGCCG | AAGCCGAAAGCG | TATATTAATTAATCCTGGAAACCATCTTAAGATCCAAGAA c.1980
 E  S  R  |  S  R  K  R  |  I  L  I  N  P  G  N  H  L  K  I  Q  E   p.660

          .         .         .         .        | 19.         .    g.630789
 GGTACTTTAGGATTTTTCATCGCAAGTGATGCCAAAGAAGTTAAAAG | GGCATTTTTTTAC    c.2040
 G  T  L  G  F  F  I  A  S  D  A  K  E  V  K  R  |  A  F  F  Y      p.680

          .         .         .         .         .         .       g.630849
 TGCAAGGCCTGTCATGATGACATCACAGATCCCAAAAGAATAAAAAAATGTGGCTGCAAA       c.2100
 C  K  A  C  H  D  D  I  T  D  P  K  R  I  K  K  C  G  C  K         p.700

      | 20   .         .         .         .         .         .    g.672808
 CGGC | TTGAAGATGAGCAGCCGTCAACACTATCACCAAAAAAAAAGCAACGGAATGGAGGC    c.2160
 R  L |   E  D  E  Q  P  S  T  L  S  P  K  K  K  Q  R  N  G  G      p.720

          .         .         .         | 21         .         .    g.688917
 ATGCGGAACTCACCCAACACCTCGCCTAAGCTGATGAG | GCATGACCCCTTGTTAATTCCT    c.2220
 M  R  N  S  P  N  T  S  P  K  L  M  R  |  H  D  P  L  L  I  P      p.740

          .         .         .         .         .         .       g.688977
 GGCAATGATCAGATTGACAACATGGACTCCAATGTGAAGAAGTACGACTCTACTGGGATG       c.2280
 G  N  D  Q  I  D  N  M  D  S  N  V  K  K  Y  D  S  T  G  M         p.760

          .         .         .         .   | 22     .         .    g.693471
 TTTCACTGGTGTGCACCCAAGGAGATAGAGAAAGTCATCCTG | ACTCGAAGTGAAGCTGCC    c.2340
 F  H  W  C  A  P  K  E  I  E  K  V  I  L   | T  R  S  E  A  A      p.780

          .         .         .         .         .         .       g.693531
 ATGACCGTCCTGAGTGGCCATGTCGTGGTCTGCATCTTTGGCGACGTCAGCTCAGCCCTG       c.2400
 M  T  V  L  S  G  H  V  V  V  C  I  F  G  D  V  S  S  A  L         p.800

          .         .         .         .         .         .       g.693591
 ATCGGCCTCCGGAACCTGGTGATGCCGCTCCGTGCCAGCAACTTTCATTACCATGAGCTC       c.2460
 I  G  L  R  N  L  V  M  P  L  R  A  S  N  F  H  Y  H  E  L         p.820

          .         .         .         .         .         .       g.693651
 AAGCACATTGTGTTTGTGGGCTCTATTGAGTACCTCAAGCGGGAATGGGAGACGCTTCAT       c.2520
 K  H  I  V  F  V  G  S  I  E  Y  L  K  R  E  W  E  T  L  H         p.840

          .         .        | 23.         .         .         .    g.697887
 AACTTCCCCAAAGTGTCCATATTGCCT | GGTACGCCATTAAGTCGGGCTGATTTAAGGGCT    c.2580
 N  F  P  K  V  S  I  L  P   | G  T  P  L  S  R  A  D  L  R  A      p.860

          .         .         .         .         .         .       g.697947
 GTCAACATCAACCTCTGTGACATGTGCGTTATCCTGTCAGCCAATCAGAATAATATTGAT       c.2640
 V  N  I  N  L  C  D  M  C  V  I  L  S  A  N  Q  N  N  I  D         p.880

          .         .         .         .         .         .       g.698007
 GATACTTCGCTGCAGGACAAGGAATGCATCTTGGCGTCACTCAACATCAAATCTATGCAG       c.2700
 D  T  S  L  Q  D  K  E  C  I  L  A  S  L  N  I  K  S  M  Q         p.900

          .         .         .         . | 24       .         .    g.727790
 TTTGATGACAGCATCGGAGTCTTGCAGGCTAATTCCCAAG | GGTTCACACCTCCAGGAATG    c.2760
 F  D  D  S  I  G  V  L  Q  A  N  S  Q  G |   F  T  P  P  G  M      p.920

          .         .         .         .         .         .       g.727850
 GATAGATCCTCTCCAGATAACAGCCCAGTGCACGGGATGTTACGTCAACCATCCATCACA       c.2820
 D  R  S  S  P  D  N  S  P  V  H  G  M  L  R  Q  P  S  I  T         p.940

          .         .         .     | 25   .         .         .    g.732749
 ACTGGGGTCAACATCCCCATCATCACTGAACTAG | TGAACGATACTAATGTTCAGTTTTTG    c.2880
 T  G  V  N  I  P  I  I  T  E  L  V |   N  D  T  N  V  Q  F  L      p.960

          .         .         .         .         .         .       g.732809
 GACCAAGACGATGATGATGACCCTGATACAGAACTGTACCTCACGCAGCCCTTTGCCTGT       c.2940
 D  Q  D  D  D  D  D  P  D  T  E  L  Y  L  T  Q  P  F  A  C         p.980

          .         .         .         .      | 26  .         .    g.751115
 GGGACAGCATTTGCCGTCAGTGTCCTGGACTCACTCATGAGCGCG | ACGTACTTCAATGAC    c.3000
 G  T  A  F  A  V  S  V  L  D  S  L  M  S  A   | T  Y  F  N  D      p.1000

          .         .         .         .         .         .       g.751175
 AATATCCTCACCCTGATACGGACCCTGGTGACCGGAGGAGCCACGCCGGAGCTGGAGGCT       c.3060
 N  I  L  T  L  I  R  T  L  V  T  G  G  A  T  P  E  L  E  A         p.1020

          .         .         .         .         .         .       g.751235
 CTGATTGCTGAGGAAAACGCCCTTAGAGGTGGCTACAGCACCCCGCAGACACTGGCCAAT       c.3120
 L  I  A  E  E  N  A  L  R  G  G  Y  S  T  P  Q  T  L  A  N         p.1040

          .         .         .         .         .         .       g.751295
 AGGGACCGCTGCCGCGTGGCCCAGTTAGCTCTGCTCGATGGGCCATTTGCGGACTTAGGG       c.3180
 R  D  R  C  R  V  A  Q  L  A  L  L  D  G  P  F  A  D  L  G         p.1060

  | 27       .         .         .         .         .         .    g.753310
  | GATGGTGGTTGTTATGGTGATCTGTTCTGCAAAGCTCTGAAAACATATAATATGCTTTGT    c.3240
  | D  G  G  C  Y  G  D  L  F  C  K  A  L  K  T  Y  N  M  L  C      p.1080

          .         .         .         .         .          | 28    g.755305
 TTTGGAATTTACCGGCTGAGAGATGCTCACCTCAGCACCCCCAGTCAGTGCACAAAGAG | G    c.3300
 F  G  I  Y  R  L  R  D  A  H  L  S  T  P  S  Q  C  T  K  R  |      p.1100

          .         .         .         .         .         .       g.755365
 TATGTCATCACCAACCCGCCCTATGAGTTTGAGCTCGTGCCGACGGACCTGATCTTCTGC       c.3360
 Y  V  I  T  N  P  P  Y  E  F  E  L  V  P  T  D  L  I  F  C         p.1120

          .         .         .         .         .         .       g.755425
 TTAATGCAGTTTGACCACAATGCCGGCCAGTCCCGGGCCAGCCTGTCCCATTCCTCCCAC       c.3420
 L  M  Q  F  D  H  N  A  G  Q  S  R  A  S  L  S  H  S  S  H         p.1140

          .         .         .         .         .         .       g.755485
 TCGTCGCAGTCCTCCAGCAAGAAGAGCTCCTCTGTTCACTCCATCCCATCCACAGCAAAC       c.3480
 S  S  Q  S  S  S  K  K  S  S  S  V  H  S  I  P  S  T  A  N         p.1160

          .         .         .         .     | 29   .         .    g.764942
 CGACAGAACCGGCCCAAGTCCAGGGAGTCCCGGGACAAACAGAA | CAGAAAAGAAATGGTT    c.3540
 R  Q  N  R  P  K  S  R  E  S  R  D  K  Q  N  |  R  K  E  M  V      p.1180

                                                                    g.764951
 TACAGATGA                                                          c.3549
 Y  R  X                                                            p.1182

          .         .         .         .         .         .       g.765011
 accggataatgcctatcccagaaacattcaaatcaagcccatgagtacccacatggctaa       c.*60

          .         .         .         .         .         .       g.765071
 ccagatcaaccaatataaatccacaagcagcttgattccaccaatcagagaagttgaaga       c.*120

          .         .         .         .         .         .       g.765131
 tgaatgttgactcccaggagaccagaactatttttttaaagcctgacaaacttcataaat       c.*180

          .         .         .         .         .         .       g.765191
 ggtgatgtgacttttcttcttacatgctgaatcactggtggaaacgttaggataagcaag       c.*240

          .         .         .         .         .         .       g.765251
 aattgccagaaaataaagtagacagatctttctctttgtctgccttgaatattgcttcca       c.*300

          .         .         .         .         .         .       g.765311
 tgtattttggaaaagaaaatgatttcatttataaatgaacatactaaaatagtcatgtat       c.*360

          .         .         .         .         .         .       g.765371
 agcctctagcattttaaattatttttatttattagaaagaaaatatattttttcttttca       c.*420

          .         .         .         .         .         .       g.765431
 ttgtcaaatatcttccctatatctaaacaatgcaaaatctaaatgaataagtggtcagac       c.*480

          .         .         .         .         .         .       g.765491
 tccttaatgtgtttttctcttctttctctctttttctttgaggagaatgatggtcaccac       c.*540

          .         .         .         .         .         .       g.765551
 cacaattaattgtaattaagggaaatgaattattaaaacaattttaaaatggccaatgat       c.*600

          .         .         .         .         .         .       g.765611
 gtatacatgtattttagtaaatccagaaaagaagactaaggggacaggtgaatacctgct       c.*660

          .         .         .         .         .         .       g.765671
 cctcgcctggatgggtgtgtattttgatctgcattgacaccagctcttaataaatggaaa       c.*720

          .         .         .         .         .         .       g.765731
 cttatttattttcacagttgaaagtcatatttttgtagttctagttttcattctgtagtt       c.*780

          .         .         .         .         .         .       g.765791
 ctcacccctttgttcatatttttaaagggaagaccttctgctgcttttctacaattggca       c.*840

          .         .         .         .         .         .       g.765851
 gatcaggtttgtctggccaactaaggacaccaggagggttgtgggcacacctgggatgtg       c.*900

          .         .         .         .         .         .       g.765911
 gaagctgaggaccagatgcacacaaggcattgctctgtttgctgttctagtggtggagac       c.*960

          .         .         .         .         .         .       g.765971
 tcctacgtgctgttatgcttctcattttatatttccaaaccacctgagcgagtaatgtca       c.*1020

          .         .         .         .         .         .       g.766031
 acttcgggagggtctggtggactttctccccactccccaagtctcagagcttttagcctg       c.*1080

          .         .         .         .         .         .       g.766091
 gaagtttgtaaaactgattagtagttttactttaccataggatgtgagagggcagtcatt       c.*1140

          .         .         .         .         .         .       g.766151
 cttctcactgagtttttgtttaaaaaccaggaaatttctacaatcatggagacagatttt       c.*1200

          .         .         .         .         .         .       g.766211
 aatttgcatgctctcctttatttagttgctggggccaaacacatgaacttgttacaacaa       c.*1260

          .         .         .         .         .         .       g.766271
 tttaaaaataataataacaaaaggaaagcaacgaatgcacttcatatagactgttagaaa       c.*1320

          .         .         .         .         .         .       g.766331
 aggcctttgaaaattaccagcagtgaaatcaaataaattagccactttaaactgcggtca       c.*1380

          .         .         .         .         .         .       g.766391
 aaagatttttctagccatcagatgcaattacgatgtctcagagctctgctatcgcttgca       c.*1440

          .         .         .         .         .         .       g.766451
 tgctcggtgtacagtctcccggcaactgttttgttccaatcaacttagcaagtctttcaa       c.*1500

          .         .         .         .         .         .       g.766511
 ctttaaaattatcaatctttgatatgatcatcaaggtctctggagaagcatggatgtaat       c.*1560

          .         .         .         .         .         .       g.766571
 agtgatttctattttcttaaaaaatgtaaactgtggacacttaatggaaccaagctaacc       c.*1620

          .         .         .         .         .         .       g.766631
 aaagtatctccccgaagtttcatgatatctagtccattaactctttgggccatgacctgt       c.*1680

          .         .         .         .         .         .       g.766691
 ggtacctagttatggtagtgcaaatcagatcagagcaaagcaatgagatcatcatgaaga       c.*1740

          .         .         .         .         .         .       g.766751
 catatgtccactaagtactccaattaccagcgtaggcaaaatgagcttccacctctgtcc       c.*1800

          .         .         .         .         .         .       g.766811
 actccctgcagagccaatatagtcgtgcttccacctcgtaggcattgtcctgcagtgatt       c.*1860

          .         .         .         .         .         .       g.766871
 tgtcggactgtggttactctgtcgtcacattttgtagaattagttctataaaagtattgt       c.*1920

          .         .         .         .         .         .       g.766931
 gaatacaatgtatgtccaattggattgtttaaaaactacttataattaatcactagccta       c.*1980

          .         .         .         .         .         .       g.766991
 ctcagcagactaaaatgatgtcaacagtctatattcaggcttataaacatttcttggttt       c.*2040

          .         .         .         .         .         .       g.767051
 ccaacagaagtcaaatgtgtttgtggggagaacgttttgctaggattttgacaactttcc       c.*2100

          .         .         .         .         .         .       g.767111
 tgaaagctaggccttttttacataatgattttgcattggggtcaccttagtatattcacg       c.*2160

          .         .         .         .         .         .       g.767171
 tcaatccacgctcttctttccttcgtgaaccatagtgggctcttcactcctgctcgtaat       c.*2220

          .         .         .         .         .         .       g.767231
 aaccacctccaaatttgttagagtgatttggtctcctctggcaggctgtggtggccacat       c.*2280

          .         .         .         .         .         .       g.767291
 aaaggatcttccattagagggacacaggacacaaagctccattcccatgaccctctcttc       c.*2340

          .         .         .         .         .         .       g.767351
 cctgtgtctcccctaacaaggcaatctggaagcagaaatgcaaactccagccccaccaca       c.*2400

          .         .         .         .         .         .       g.767411
 catccaccgatgcatttgtggctagaaattttaatctaaactttttttaaaaaaaatcat       c.*2460

          .         .         .         .         .         .       g.767471
 aatagttaggatagtttcctatagcaaagggctccttgattcataagcacctccccccca       c.*2520

          .         .         .         .         .         .       g.767531
 aaaaaaccaaattggtaaaaattcattttcttttaaatagagcaataagttcatactgtg       c.*2580

          .         .         .         .         .         .       g.767591
 ttgccgttgtaataatgaattgttctggactagaaaacaaaatgaggcattttgttaagg       c.*2640

          .         .         .         .         .         .       g.767651
 gggtaggaaaatgactgattgttgggccctttggcaaaagctggtgcctggtaagtagaa       c.*2700

          .         .         .         .         .         .       g.767711
 acgaaatggaaacagaaataacatttgtgaaatcactggagggctcaagcaaatgccaga       c.*2760

          .         .         .         .         .         .       g.767771
 gcttctccctggcttgttcctacttgttgagctctttggccctgagtcccatccatctcc       c.*2820

          .         .         .         .         .         .       g.767831
 actgcaacagtctgtctttctgcctacatccgcctgagaccaaggagggtctttggtaca       c.*2880

          .         .         .         .         .         .       g.767891
 gtccacattatgaggctctgatttcctatcccagtttagggctccagaaaagccattctc       c.*2940

          .         .         .         .         .         .       g.767951
 ccaaactaatgattcttgggtgctgtgggtcaccaacaggctgtttacaaagcagaaaat       c.*3000

          .         .         .         .         .         .       g.768011
 atcatcaccatcataacctttctccttgagaaaacttttatttttgtctaagcaatttta       c.*3060

          .         .         .         .         .         .       g.768071
 tattttagaatatcatcttgaaccattataaaacaccttaaataaaagtgattgtgacta       c.*3120

          .         .         .         .         .         .       g.768131
 aggcacgttggagaacattccaatctttcctcccaagggttctggcaccttatgatgtac       c.*3180

          .         .         .         .         .         .       g.768191
 tttgtaaaaaaattgattgaagattttaaataaacaggaaattagaagtgttagggttag       c.*3240

          .         .         .         .         .         .       g.768251
 ataaaggaaaagtgaaaaagcataagaaatttgggactttttcatgttgaaaggagaaaa       c.*3300

          .         .         .         .         .         .       g.768311
 agcacaagttccctagttaccatttaatatgagggtgcaagagccacatttacaaacaac       c.*3360

          .         .         .         .         .         .       g.768371
 aaacttgatctttaaaaatgtttttaaaactctctgagtctcagtgacttcatttgtaaa       c.*3420

          .         .         .         .         .         .       g.768431
 tgagagtgattcatctagatgactctaaggtctctttcaggtcccaggggacgtgatcta       c.*3480

          .         .         .         .         .         .       g.768491
 agttaggagtgggaacatgggagtggctgcttctccttggctaagcccatgcagactatt       c.*3540

          .         .         .         .         .         .       g.768551
 gtgtccaggactggaataaaggtcctttttgctgcatcacccaggcaacactcccagcct       c.*3600

          .         .         .         .         .         .       g.768611
 tactcaggagtggtgaacattttctgctctggacatagaataggtaggttcattcctggt       c.*3660

          .         .         .         .         .         .       g.768671
 cttttcactttagattctctttaggttcaagatgcagatttctcaatttggacacacctg       c.*3720

          .         .         .         .         .         .       g.768731
 catcacgttggtcaaattttgctgcctgtttctagggttttcttctcagtttcatccctg       c.*3780

          .         .         .         .         .         .       g.768791
 ccttcccttttttgttgttttttttttggttcaaggcccagcttcagttaatcccttcat       c.*3840

          .         .         .         .         .         .       g.768851
 ctctatgccatgtctccaattcctagtatgtaactagaggttcaagagaccccaaattcc       c.*3900

          .         .         .         .         .         .       g.768911
 tgccattttccccatttatgtttccccatgtgaatcttcaggaagtaaccagtcttcctt       c.*3960

          .         .         .         .         .         .       g.768971
 ctcacttcatttcctgtcctctgtttatttggttattttctttcattaataaactaacca       c.*4020

          .         .         .         .         .         .       g.769031
 tctcttagctacttacattcacaaatgtaattttaatctattgtgtttcattgtgaaaga       c.*4080

          .         .         .         .         .         .       g.769091
 gaatctcattgaaggaaggaaggaagaaattgaggaataaaggtaggaagggagagaaac       c.*4140

          .         .         .         .         .         .       g.769151
 aaagactatccaaccaattgactgagatgtgagccggcttgactcctaggagactaagta       c.*4200

          .         .         .         .         .         .       g.769211
 gatccattcagcttgaacactgagttccagggcagaatctgtccattttctgttttgttc       c.*4260

          .         .         .         .         .         .       g.769271
 ttacttgctgcttttggaatggtggtaaagccaccagtcaccatgagccttgaaaggacc       c.*4320

          .         .         .         .         .         .       g.769331
 ttcactaatgaggacttgactcaccctctttaaaaagcaaaagaaacagaatttacttac       c.*4380

          .         .         .         .         .         .       g.769391
 aatcttctggtaaattacctttctgatcctctccttattcccaaaaggcaatttttttaa       c.*4440

          .         .         .         .         .         .       g.769451
 tccagcagagatgatttagcatataaatcccaggtcatttgaggaggtgatgacgctatt       c.*4500

          .         .         .         .         .         .       g.769511
 tggatttatttatgagacagtagtaattataaatgattcctaggcagtttgtactagttt       c.*4560

          .         .         .         .         .         .       g.769571
 ggtcatattggttgtttaagtggagtctcttctgattgtttgtttccaataaagtatcag       c.*4620

          .         .         .         .         .         .       g.769631
 ttgttaataatttcaagatttccataaaaataagaaaacttggaaaacatttttaatttt       c.*4680

          .         .         .         .         .         .       g.769691
 atttcttaagagaccacagagcctaattttcaatttttatggtaagcttgcttaaaacat       c.*4740

          .         .         .         .         .         .       g.769751
 gtataaaaagaagcctacatgctcaaaggcagaggcacctttagccctacaacagttgga       c.*4800

          .         .         .         .         .         .       g.769811
 agctccatgatatcacagccccacatggatagattggagaaagaattctgacttagacca       c.*4860

          .         .         .         .         .         .       g.769871
 cctgtagcagaccttcctcttttggcatatttttttaatcacaaaaaggacctgagactc       c.*4920

          .         .         .         .         .         .       g.769931
 cctatctaaagataagccaaacttggggtatacattaagaatctgggaagaaagaaaaaa       c.*4980

          .         .         .         .         .         .       g.769991
 aagaaaaagatataataagcagtattttaaaataccatgagttatgggcatgcatatggt       c.*5040

          .         .         .         .         .         .       g.770051
 acaaagagtagttctttgggttgaaagaaagaagagtttgcattgaactgcgtaggctgg       c.*5100

          .         .         .         .         .         .       g.770111
 caagaatgcagaggtatacaatgtttgatgggctttggaggcatttcaatagtaaatggg       c.*5160

          .         .         .         .         .         .       g.770171
 tgacaggactggaaagatgtggaatatgagggttttccagggagatgggacttaatgggc       c.*5220

          .         .         .         .         .         .       g.770231
 catgatgtatttgtaggaatgtgatttcaatagattgactattttgtctactgtgataag       c.*5280

          .         .         .         .         .         .       g.770291
 tttgtgtaggggaactgaggaaaactgagatgagacttcatggaaggggctacaaagtac       c.*5340

          .         .         .         .         .         .       g.770351
 agtctaaaggcctagataaagtttgaaacttgatttagaaagtcatgaaaagccactcag       c.*5400

          .         .         .         .         .         .       g.770411
 agttttaagcaaagagtgatggggcagcaatggctgtgcatttttcaggttgaaagtagt       c.*5460

          .         .         .         .         .         .       g.770471
 gagatgtcagttcttcctggaagatatcatgagaatgcacacaaaactgaacattttctc       c.*5520

          .         .         .         .         .         .       g.770531
 agcagcaaggagtgctaaagggtgcacactccaagtcaacaactcaccgtgtgcagcacc       c.*5580

          .         .         .         .         .         .       g.770591
 ttcctcacacattttgctttgctttctgtcacaggaccatcagacgtagaacgtcctgac       c.*5640

          .         .         .         .         .         .       g.770651
 tctcctgaattactagaatgtcagcaacaaactcacaaagtagattagagggtaggaata       c.*5700

          .         .         .         .         .         .       g.770711
 gatacataaatttttaaaaacctgccaatcatactgttttctagacagtaatataataag       c.*5760

          .         .         .         .         .         .       g.770771
 aacatgaggcaggacatccacaaatagtagagaataattaatagtccagaactgccaaat       c.*5820

          .         .         .         .         .         .       g.770831
 aggaattccccttatgaaaacacccttgcagctaatcaggtagcccttgtttagaaacca       c.*5880

          .         .         .         .         .         .       g.770891
 attagcactcataaaatatttgtacaaggagtgagtgggggagaaatgagcacaatatgg       c.*5940

          .         .         .         .         .         .       g.770951
 gttctgccatcaatcagcttataatacaactaaagaaagaaaacatgctcaaagcaccat       c.*6000

          .         .         .         .         .         .       g.771011
 tagagaaagggtgagccctaatgacatagtttcacattcaatatggtaggagttgaaaca       c.*6060

          .         .         .         .         .         .       g.771071
 agggagaaatgctgtggtttgaagtggttcaacaaggtaggatttctagagaaagggggg       c.*6120

          .         .         .         .         .         .       g.771131
 tttaggagttagataagtagaggatcagcattctaggtatgaaggcaggattatctggca       c.*6180

          .         .         .         .         .         .       g.771191
 tgtggcagggtgaatgatgttaatcagtaactgctaattgatatttactgagcagctgct       c.*6240

          .         .         .         .         .         .       g.771251
 gtgtcctcacgatggtaagactattagaggaagacagcccacctgcctaactgggaacac       c.*6300

          .         .         .         .         .         .       g.771311
 aaggcacacatatattggaaagatcatgttgcacaaaacaggtgttcaataaataatttt       c.*6360

          .         .         .         .         .         .       g.771371
 tgaataaatgtgaacactgaatagcaaataaatgttatagatcgtaatagttgtagaaga       c.*6420

          .         .         .         .         .         .       g.771431
 ttggttgggattgtagggactggatgtggggcaatggctgtgggtctagagtatattcat       c.*6480

          .         .         .         .         .         .       g.771491
 tgtgcagtggacacacacctaatctgtcctcaaggacagaaccatgtggaggaataggaa       c.*6540

          .         .         .         .         .         .       g.771551
 aacaagagaagcaggcaagaagcggaggcagtgagtacagcagctaagaaatgttacatt       c.*6600

          .         .         .         .         .         .       g.771611
 gggttcatccagagcaagaaaagctgagagctgtccgtgagggaaggccacacaggcaag       c.*6660

          .         .         .         .         .         .       g.771671
 aggagtgggacaggggagtaaaggagtgggctacaacaggccctgcagatgtggaagcca       c.*6720

          .         .         .         .         .         .       g.771731
 gacccacagaggcacttagaaagtgaggatcctggatgaattattttagggagaaagtgt       c.*6780

          .         .         .         .         .         .       g.771791
 aggtttagatcagctggcagatgtgtttgtgggctacagccaagtttttcaggactaaga       c.*6840

          .         .         .         .         .         .       g.771851
 aggagcaaaataagtagaacttcttgggacaggagatctagggtactccagaaccaggga       c.*6900

          .         .         .         .         .         .       g.771911
 aatgagaaacaagaggggaattttaagaaagagagggaagatcatctatgaggttggaga       c.*6960

          .         .         .         .         .         .       g.771971
 tgaaaggtgttggagatggtgaggcacaagtcaaaagactcactcgaagggcaggaactc       c.*7020

          .         .         .         .         .         .       g.772031
 tgcttatttgtccatattcccagagtttgtcatgaggtctggcccacgtgggcagtcact       c.*7080

          .         .         .         .         .         .       g.772091
 cggccactatgtatcactgtggctgccatggtggatggaggctggacagaacctgtggtg       c.*7140

          .         .         .         .         .         .       g.772151
 atcggcagtctttctggaggactcaccagggaggggtctcagggtgggcatctcctttca       c.*7200

          .         .         .         .         .         .       g.772211
 ccttcctgtgcatgtcactgcactgttcttcttccctccctgaacagcacacacactgca       c.*7260

          .         .         .         .         .         .       g.772271
 tccttagtttcaggggtctgaaaacaaatgctacgaccaccttgctttggtggcttttct       c.*7320

          .         .         .         .         .         .       g.772331
 gaacaggcattgtgagaagagatgttctggccaggtgaaagtggactttatttttaggta       c.*7380

          .         .         .         .         .         .       g.772391
 ggtttttcagtttagaaaggtttcctttgcttatcccttgaggacttctgtgctgctgct       c.*7440

          .         .         .         .         .         .       g.772451
 tctcctccatcttgctagttaacagaacaggggcagaagtgacaccaatgctctcggcca       c.*7500

          .         .         .         .         .         .       g.772511
 tgcctgccttgggaagcactaccgggccccactgtttagaatcttagatggaaatgtaca       c.*7560

          .         .         .         .         .         .       g.772571
 caaggcattgacacacgcctgcgggagtgacccagtgcttccctcccatgggactcaggg       c.*7620

          .         .         .         .         .         .       g.772631
 tcagcgtgggaaggcagctggcagggacaggagccccgcccgcaaggtggactgagcctc       c.*7680

          .         .         .         .         .         .       g.772691
 acttccacacaaaaccagagtcccatctgccccagagcgctcgctctcctccccttcctt       c.*7740

          .         .         .         .         .         .       g.772751
 ccgctcaatgcagcctgacacgcctttgaccagaactgcaacatttcaaacacaaaccca       c.*7800

          .         .         .         .         .         .       g.772811
 gatctgttgggaaatcctaattaaaaacgttgcattcccaggtggcacaatcacatcctg       c.*7860

          .         .         .         .         .         .       g.772871
 cctaaaacttctggcccacatcccaccacccagatgttgaaaagaaacctttctctgctt       c.*7920

          .         .         .         .         .         .       g.772931
 aacaccaaaacctgcacttcaaggtttctttaggggacaaagaaaaaaaaagtacacaca       c.*7980

          .         .         .         .         .         .       g.772991
 tgcagagttcagcctacatgttcattgaggaaaaagagcgtggcttattcatctttcaat       c.*8040

          .         .         .         .         .         .       g.773051
 cttttgattgttggcattatgattatgattatgattaattactctgacctgacaggaatt       c.*8100

          .         .         .         .         .         .       g.773111
 gaagaagagactatatgctggtgctctgaaatgatctacccaactctgtcatctgtaaca       c.*8160

          .         .         .         .         .         .       g.773171
 accagtgataactctcttgtcttgtaaaaagggtttgtacataacttgtacatggtttca       c.*8220

          .         .         .         .                           g.773219
 ttttgtatttttcgcagattaaaaatttatgtatttgtgttctaaaac                   c.*8268

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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