solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4) - coding DNA reference sequence

(used for variant description)

(last modified July 22, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_153646.3 in the SLC24A4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000014.8, covering SLC24A4 transcript NM_153646.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.6250
                                      agacggcacccaggcgctccggg       c.-1

          .         .         .         .         .         .       g.6310
 ATGGCGCTCCGCGGGACCCTCCGGCCGCTCAAAGTTCGCAGGAGGCGAGAGATGCTGCCG       c.60
 M  A  L  R  G  T  L  R  P  L  K  V  R  R  R  R  E  M  L  P         p.20

          .         .         .         .         .         .       g.6370
 CAGCAAGTCGGCTTCGTGTGCGCGGTGCTGGCCCTGGTGTGCTGTGCGTCCGGCCTCTTC       c.120
 Q  Q  V  G  F  V  C  A  V  L  A  L  V  C  C  A  S  G  L  F         p.40

          . | 02       .         .         .         .         .    g.8337
 GGCAGCTTGG | GGCACAAAACAGCTTCTGCTAGCAAACGTGTCCTGCCAGACACGTGGAGA    c.180
 G  S  L  G |   H  K  T  A  S  A  S  K  R  V  L  P  D  T  W  R      p.60

          .         .         .         .         .         .       g.8397
 AATAGAAAGTTGATGGCCCCAGTGAATGGGACACAGACAGCCAAGAACTGCACAGATCCT       c.240
 N  R  K  L  M  A  P  V  N  G  T  Q  T  A  K  N  C  T  D  P         p.80

   | 03      .         .         .         .         .         .    g.116390
 G | CGATTCACGAGTTCCCCACAGATCTGTTCTCCAATAAGGAGCGACAGCACGGAGCCGTC    c.300
 A |   I  H  E  F  P  T  D  L  F  S  N  K  E  R  Q  H  G  A  V      p.100

          .         | 04         .         .         .         .    g.121796
 CTGCTGCACATCCTTGGT | GCTCTGTATATGTTCTATGCCTTGGCCATAGTGTGCGATGAC    c.360
 L  L  H  I  L  G   | A  L  Y  M  F  Y  A  L  A  I  V  C  D  D      p.120

          .         .         .    | 05    .         .         .    g.124535
 TTCTTTGTTCCGTCTCTAGAGAAGATCTGTGAG | AGACTCCATCTGAGCGAAGATGTGGCT    c.420
 F  F  V  P  S  L  E  K  I  C  E   | R  L  H  L  S  E  D  V  A      p.140

          .         .         .         .         .         | 06    g.125134
 GGAGCCACCTTCATGGCTGCAGGAAGCTCAACGCCAGAGCTGTTTGCGTCTGTTATTG | GG    c.480
 G  A  T  F  M  A  A  G  S  S  T  P  E  L  F  A  S  V  I  G |       p.160

          .         .         .         .         .         .       g.125194
 GTGTTCATCACCCATGGGGACGTCGGGGTGGGCACCATCGTGGGCTCTGCTGTGTTCAAC       c.540
 V  F  I  T  H  G  D  V  G  V  G  T  I  V  G  S  A  V  F  N         p.180

          .         .         .         .   | 07     .         .    g.125837
 ATCCTGTGCATAATTGGAGTGTGCGGACTGTTTGCTGGCCAG | GTGGTCCGTCTGACGTGG    c.600
 I  L  C  I  I  G  V  C  G  L  F  A  G  Q   | V  V  R  L  T  W      p.200

          .         .         .         .         .        | 08.    g.127739
 TGGGCCGTGTGCCGAGACTCCGTGTACTACACCATCTCTGTCATCGTGCTCATCGTG | TTC    c.660
 W  A  V  C  R  D  S  V  Y  Y  T  I  S  V  I  V  L  I  V   | F      p.220

          .         .    | 09    .         .         .         .    g.129827
 ATATATGATGAACAAATTGTGTG | GTGGGAAGGCCTGGTGCTCATCATCTTGTATGTGTTT    c.720
 I  Y  D  E  Q  I  V  W  |  W  E  G  L  V  L  I  I  L  Y  V  F      p.240

          .        | 10.         .         .         .         .    g.131536
 TATATTCTGATCATGAA | GTACAATGTGAAGATGCAAGCCTTTTTCACAGTCAAACAAAAG    c.780
 Y  I  L  I  M  K  |  Y  N  V  K  M  Q  A  F  F  T  V  K  Q  K      p.260

          .         .         .         .         .         .       g.131596
 AGCATTGCAAACGGTAACCCGGTCAACAGTGAGCTGGAGGCTGGTAATGATTTCTATGAC       c.840
 S  I  A  N  G  N  P  V  N  S  E  L  E  A  G  N  D  F  Y  D         p.280

          .         .         .         . | 11       .         .    g.136339
 GGTAGCTATGATGACCCTTCCGTGCCATTGCTGGGGCAAG | TGAAGGAGAAGCCACAGTAT    c.900
 G  S  Y  D  D  P  S  V  P  L  L  G  Q  V |   K  E  K  P  Q  Y      p.300

          .         .         .         .         .         .       g.136399
 GGCAAGAACCCCGTGGTGATGGTGGACGAGATTATGAGCTCCAGCCCTCCCAAGTTCACC       c.960
 G  K  N  P  V  V  M  V  D  E  I  M  S  S  S  P  P  K  F  T         p.320

          .         .         .         .         .         .       g.136459
 TTCCCTGAAGCAGGCTTACGAATCATGATCACCAATAAGTTTGGACCCAGGACCCGACTA       c.1020
 F  P  E  A  G  L  R  I  M  I  T  N  K  F  G  P  R  T  R  L         p.340

          .         .         . | 12       .         .         .    g.138853
 CGGATGGCCAGCAGGATCATCATTAATGAG | CGGCAGAGACTGATCAACTCGGCCAATGGT    c.1080
 R  M  A  S  R  I  I  I  N  E   | R  Q  R  L  I  N  S  A  N  G      p.360

          .         .         .         .         .         .       g.138913
 GTGAGCAGTAAGCCGCTTCAAAACGGGAGGCACGAGAACATTGAGAACGGGAATGTTCCT       c.1140
 V  S  S  K  P  L  Q  N  G  R  H  E  N  I  E  N  G  N  V  P         p.380

          .         .         .         .         .         .       g.138973
 GTGGAAAACCCCGAAGACCCTCAGCAGAATCAGGAGCAGCAGCCGCCGCCACAGCCACCA       c.1200
 V  E  N  P  E  D  P  Q  Q  N  Q  E  Q  Q  P  P  P  Q  P  P         p.400

          .         .         .         .         .      | 13  .    g.165104
 CCGCCAGAGCCAGAGCCGGTGGAGGCTGACTTCCTGTCCCCCTTCTCCGTGCCGG | AGGCC    c.1260
 P  P  E  P  E  P  V  E  A  D  F  L  S  P  F  S  V  P  E |   A      p.420

          .         .         .         .         .         .       g.165164
 AGAGGGGACAAGGTCAAGTGGGTGTTCACCTGGCCCCTCATCTTCCTCCTGTGCGTCACC       c.1320
 R  G  D  K  V  K  W  V  F  T  W  P  L  I  F  L  L  C  V  T         p.440

          .         .         .         .         .         .       g.165224
 ATTCCCAACTGCAGCAAGCCCCGCTGGGAGAAGTTCTTCATGGTCACCTTCATCACCGCC       c.1380
 I  P  N  C  S  K  P  R  W  E  K  F  F  M  V  T  F  I  T  A         p.460

          .         .         .         .   | 14     .         .    g.169103
 ACGCTGTGGATCGCTGTGTTCTCCTACATCATGGTGTGGCTG | GTGACTATTATCGGATAC    c.1440
 T  L  W  I  A  V  F  S  Y  I  M  V  W  L   | V  T  I  I  G  Y      p.480

          .         .         .         .         .         .       g.169163
 ACACTTGGGATCCCGGATGTCATCATGGGCATTACTTTCCTGGCAGCAGGGACAAGTGTT       c.1500
 T  L  G  I  P  D  V  I  M  G  I  T  F  L  A  A  G  T  S  V         p.500

          .         .         .        | 15.         .         .    g.174107
 CCAGACTGCATGGCCAGCCTAATTGTGGCGAGACAAG | GCCTTGGGGACATGGCAGTCTCC    c.1560
 P  D  C  M  A  S  L  I  V  A  R  Q  G |   L  G  D  M  A  V  S      p.520

          .         .         .         .         .         .       g.174167
 AACACCATAGGAAGCAACGTGTTTGACATCCTGGTAGGACTTGGTGTACCGTGGGGCCTG       c.1620
 N  T  I  G  S  N  V  F  D  I  L  V  G  L  G  V  P  W  G  L         p.540

          .         .         . | 16       .         .         .    g.174624
 CAGACCATGGTTGTTAATTATGGATCAACA | GTGAAGATCAACAGCCGGGGGCTGGTCTAT    c.1680
 Q  T  M  V  V  N  Y  G  S  T   | V  K  I  N  S  R  G  L  V  Y      p.560

          .         .         .       | 17 .         .         .    g.175919
 TCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACC | GTCCTCGGCATCCACCTAAACAAG    c.1740
 S  V  V  L  L  L  G  S  V  A  L  T   | V  L  G  I  H  L  N  K      p.580

          .         .         .         .         .         .       g.175979
 TGGCGACTGGACCGGAAGCTGGGTGTCTACGTGCTGGTTCTCTACGCCATCTTCTTGTGC       c.1800
 W  R  L  D  R  K  L  G  V  Y  V  L  V  L  Y  A  I  F  L  C         p.600

          .         .         .         .         .         .       g.176039
 TTCTCCATAATGATAGAGTTTAACGTCTTTACCTTCGTCAACTTGCCGATGTGCCGGGAA       c.1860
 F  S  I  M  I  E  F  N  V  F  T  F  V  N  L  P  M  C  R  E         p.620

                                                                    g.176048
 GACGATTAG                                                          c.1869
 D  D  X                                                            p.622

          .         .         .         .         .         .       g.176108
 cgctgagtcgcggcccctgggagctgatctggacaccctgtgacactggcgttctcctct       c.*60

          .         .         .         .         .         .       g.176168
 cccctccttcccccaccacaggtctctcctgcataggcagccactgtccgttctttcaca       c.*120

          .         .         .         .         .         .       g.176228
 cactggaaggaagagccatcgtggtctttgtctggccacaggccaggctgctgggcatcc       c.*180

          .         .         .         .         .         .       g.176288
 tcctcctccttggagttccgcccctgcaaggctggatttgggggccattatctgagcagc       c.*240

          .         .         .         .         .         .       g.176348
 ttcaaagacccctgagctgccaaccacggagatgtgccaagcatctcatctctcctgcac       c.*300

          .         .         .         .         .         .       g.176408
 actttagtcagaaggacttctgcatgcagtttgtctttctgttctgcaggcagcttcaga       c.*360

          .         .         .         .         .         .       g.176468
 attgaggtcatttgtgagcacaagatctcatagggcaggtgcaaaataggaatgttgttc       c.*420

          .         .         .         .         .         .       g.176528
 tcaagtgtcacctccagcccagaggtggttccttaggcagcatgtgctcctgggagcctc       c.*480

          .         .         .         .         .         .       g.176588
 tgacttttgctggaagcagccacagtttggaaggggcaagacctcaacctgttggggttt       c.*540

          .         .         .         .         .         .       g.176648
 agggcccatgatggcagacattctaccccttttcctggaaaaactggaagaatgaaaata       c.*600

          .         .         .         .         .         .       g.176708
 atttttttctgtggaagagagaaaatgagtgaatattcttctcacttttattgatgcatt       c.*660

          .         .         .         .         .         .       g.176768
 cagagaataagcaatgaaatattaaaaaatgaaacatcatataggtcatcatacttgaaa       c.*720

          .         .         .         .         .         .       g.176828
 attatcattccatatgaaaggatcatgatacacaccaaaaaagtaatgatcgtaaagaca       c.*780

          .         .         .         .         .         .       g.176888
 caaatcctctgtatgccatcttgcattggcactgaggtgtttggtttggaatagggaaaa       c.*840

          .         .         .         .         .         .       g.176948
 aggtaagagactaacgtggaaaggtgctaactcagagactggagattatagtttacagct       c.*900

          .         .         .         .         .         .       g.177008
 gtactttccagatcttctatgtgacacaatgcactgtccttgtgggtttgtcatttattg       c.*960

          .         .         .         .         .         .       g.177068
 gttaatgctctagtttcaaaaccaccctgttgaaagttccagttatttatatgcccaaca       c.*1020

          .         .         .         .         .         .       g.177128
 aatttcatagcctgctgaactgaactgagtgtgtcagaagtgctggttaatgacgagaag       c.*1080

          .         .         .         .         .         .       g.177188
 agattgcctgaaaaacaacaaactgctttctggttagctgaaggcaagtgtgaaaatcag       c.*1140

          .         .         .         .         .         .       g.177248
 aatttagaatatttagagctaagcttctggaaccacgtagtttctacacgtggcaggcca       c.*1200

          .         .         .         .         .         .       g.177308
 agaatgggaggctgactcaaaactagatagaaaaatataaaataatcttcgaccacttga       c.*1260

          .         .         .         .         .         .       g.177368
 tagctctcaaatatatatttaaaagatttatgaatacaaaccatttatggtttatgattt       c.*1320

          .         .         .         .         .         .       g.177428
 ctaaaaagaaagcacaattaattttatagagaggttttttatttttttaatatttctatt       c.*1380

          .         .         .         .         .         .       g.177488
 gcaaaagtctatccgatttgatgcactttgaatattgagatattttgcacggatgaatgt       c.*1440

          .         .         .         .         .         .       g.177548
 atgggaactacccatgatgatgtaagaggaaagaacatttttttgtgattcaccagacat       c.*1500

          .         .         .         .         .         .       g.177608
 cactttaaacttggtgatgagtttaaatccagtagctaatcccttcctgagactcaaaga       c.*1560

          .         .         .         .         .         .       g.177668
 tcgtgacgctggttggaatttctgactgtgccctttagggcctcctgagtttcaaaagga       c.*1620

          .         .         .         .         .         .       g.177728
 ggaagtgttcgtgcttgtgtccctgaagttccctgttgcatgagcctgcgacaggacctc       c.*1680

          .         .         .         .         .         .       g.177788
 acccccaccaccaggcttctatttgggattcacatcagtattagtatcgtagctacacca       c.*1740

          .         .         .         .         .         .       g.177848
 agttcaggcttctctttttgtttttttacctagaaattgggctcagtggtcttcaacttg       c.*1800

          .         .         .         .         .         .       g.177908
 aggacgagggtgattttcctaagaaatcagcaaagagggaaggcagggcccctgtagatt       c.*1860

          .         .         .         .         .         .       g.177968
 caccagtataaacttcagctgcagggattccagagccctcgggaccactctgtcacctta       c.*1920

          .         .         .         .         .         .       g.178028
 atagccaagttctcctggttcctccgatcttacaggctcatccaggttccaaagtgcttc       c.*1980

          .         .         .         .         .         .       g.178088
 tgtctctgttttgattctccaaactgctctgtgatgtatgtagggattattctccccact       c.*2040

          .         .         .         .         .         .       g.178148
 taacagaaagtagtgtcttggagaggtcaagggtctctagttcaatggccagtcatagca       c.*2100

          .         .         .         .         .         .       g.178208
 gaagggaggccaagcaccagtccatcacccctcccaggccagcctctgtaagttggccac       c.*2160

          .         .         .         .         .         .       g.178268
 acttggggagtgagtgtgggtatgactttaccctcctggttggttcttactgtttgagtc       c.*2220

          .         .         .         .         .         .       g.178328
 aaaacctcatcaatatatcattgactcctgggttcctcaggtcatttcctaatatctgtc       c.*2280

          .         .         .         .         .         .       g.178388
 cctatccaatgcctctattttatcttgaaaaaaggaccaaaaattatttttagctatggc       c.*2340

          .         .         .         .         .         .       g.178448
 aaggcacaggccacatggcccctgatggcgtccctgctggttttcaattctctgaagcct       c.*2400

          .         .         .         .         .         .       g.178508
 tgtgtagctttcagagcacacgtatcctaattaccctcctcttcctcagcagaacccatt       c.*2460

          .         .         .         .         .         .       g.178568
 tgagattctaaatgaatactcttagtctctaaagttgcagttagaaactaaaataatgtt       c.*2520

          .         .         .         .         .         .       g.178628
 ttttaatatgtaatatgctcctcttggctaattttcttttgactttaatgtgccaatgta       c.*2580

          .         .         .         .         .         .       g.178688
 acttcctttaaaggatctatgcatttattaaatctggaaaactatatgtacactgtaggt       c.*2640

          .         .         .         .         .         .       g.178748
 ggaaaattctcttttttaactaaatatttttccatcacaaatttaaagaattgcatgatt       c.*2700

          .         .         .         .         .         .       g.178808
 aattaggctttcatttttaaattacgctttcatcactacgcaggattactttattttatt       c.*2760

          .         .         .         .         .         .       g.178868
 cccaaagctcattagcatgggataattactctgctacagaaataggcaatttaaaaaaat       c.*2820

          .         .         .         .         .         .       g.178928
 gaatttagctcttctcattgggggcagaaaagaaaaaaaaaaccattgcactcagatgga       c.*2880

          .         .         .         .         .         .       g.178988
 aaatgcctatagacacaggagcaggtggttcctgtggacttctggtttggaattttgcct       c.*2940

          .         .         .         .         .         .       g.179048
 caccaggtcaagcgtggttagggtggaaggtgtccagtatcttgaaaacctggccctgga       c.*3000

          .         .         .         .         .         .       g.179108
 ggaaggttctgggtcagctgcaatgagagactggtgattaagggcaccgtgggcaggaca       c.*3060

          .         .         .         .         .         .       g.179168
 cagtcctcgccttacccaccccatccttcctgttacccacagtctgctggcctccatgcc       c.*3120

          .         .         .         .         .         .       g.179228
 tcttccccttgtcacttgtgtctcctccttatgcacagagctgcctgcctttatgaattt       c.*3180

          .         .         .         .         .         .       g.179288
 tcttttcttttttttttgagacagcgtcttgctgtgtcacccaggctggagtgcagtggt       c.*3240

          .         .         .         .         .         .       g.179348
 gccatcttggctcactgcaacctccgcctcccaggttcaagcaattcttgtgcctcagcc       c.*3300

          .         .         .         .         .         .       g.179408
 tcctgaggattacaggcgtgcgccaccacacccagctaatttttgtatttttagtagaga       c.*3360

          .         .         .         .         .         .       g.179468
 cgggttttcaccatgttggccaggctggtctcaaactcctgacctcaggtgatccaccca       c.*3420

          .         .         .         .         .         .       g.179528
 cctcggtttcccaaagtgctgggattacaggtgtgagccaccacgcccagcctgcccttg       c.*3480

          .         .         .         .         .         .       g.179588
 tgaattttcacctgctccttacccctcacctgttaggactgtttcttgcttttgcccctg       c.*3540

          .         .         .         .         .         .       g.179648
 tcggtcccctgccttaacagacctaagcagctgataatgcaccaagcttccctgaccagg       c.*3600

          .         .         .         .         .         .       g.179708
 tggggtgtgtctatcacccaagggcagtcctacagaccctgaccaaaggccgttcctggg       c.*3660

          .         .         .         .         .         .       g.179768
 cggcccaaggtccaggtttcttccacctgctcttccctgtttatggggatttgcaagcct       c.*3720

          .         .         .         .         .         .       g.179828
 aattgcatcagcaggagcccatctctcagagaacccggactccccaagcagactgggatt       c.*3780

          .         .         .         .         .         .       g.179888
 ttgggaagggtgtggggggtgtcattgctggatacccgtctttctgcctgtcctttctcc       c.*3840

          .         .         .         .         .         .       g.179948
 tctctgaatcctggggcccctctccctccttaaagctggagtggacagagggacaggaga       c.*3900

          .         .         .         .         .         .       g.180008
 ggatcagagttcatcccccctgggaaagagcaagagcgaatgaatcccagcgccagcggc       c.*3960

          .         .         .         .         .         .       g.180068
 tgaggctgccttccgtgccttccctccatgggcgacgggtgagtggggcttaggaaactg       c.*4020

          .         .         .         .         .         .       g.180128
 gaacagggaaggttctgttaccacactttggaactttccccctgggattcagcagttgag       c.*4080

          .         .         .         .         .         .       g.180188
 aagcagagacctttctgccctgggtgaatgggtccttgggggaggggttggtcttttgtc       c.*4140

          .         .         .         .         .         .       g.180248
 tcgcatccccatctttcctttccttctgggccatgctcctccctggctggaaaaaggtgg       c.*4200

          .         .         .         .         .         .       g.180308
 ctgtgctgtccctgtgatccactctcagcaaatgcgtgtggctcaaataaacaaagaact       c.*4260

          .         .         .         .         .         .       g.180368
 tacctgttagagtgaaaatcctcaggagattgtacccaaatgccatgctctaaatattca       c.*4320

          .         .         .         .         .         .       g.180428
 tggtctctctaatgccctcaagacgtgatttccatgggaaccatcctcccctgggggcag       c.*4380

          .         .         .         .         .         .       g.180488
 ttagcaggagtacgtggggcacgtgaggtggtcctcctttcagcacaccgtgcccataga       c.*4440

          .         .         .         .         .         .       g.180548
 aacttctagaaatttctgaaaatgctctgtgggcagctcttgggtggcagtaagtccatc       c.*4500

          .         .         .         .         .         .       g.180608
 aacccccatctaccccgggcctgaagcgctgcgcttgctctctttatgtgtgtgcacccg       c.*4560

          .         .         .         .         .         .       g.180668
 aaggatttcctggtctctgtagctgatcctgtgagcccctcaagcatgaagcctcccttg       c.*4620

          .         .         .         .         .         .       g.180728
 gggcttctcaaagcatggagaggggcccttcctgtcctttgggaaaatcttccccactgt       c.*4680

          .         .         .         .         .         .       g.180788
 gtcagttatatgggaacaagagtgatggggtctttctctaggcctgtgccacaggacaga       c.*4740

          .         .         .         .         .         .       g.180848
 gaacacgggattctgctgttcgctttgagccacagcctttaccagcccggcttgtgtggg       c.*4800

          .         .         .         .         .         .       g.180908
 gggccccttcgccttgctgcaaagagctgttccccaaagggcatatccacagggtacagg       c.*4860

          .         .         .         .         .         .       g.180968
 ttttaaaaaggcttttttttttttttttgagacagggtctcgctctgtcgcctagactca       c.*4920

          .         .         .         .         .         .       g.181028
 gtgcagtggcgccatgttggctggttgcaacctccacctcctgggttcaagtgattctcc       c.*4980

          .         .         .         .         .         .       g.181088
 cacctcagcctctctggtagctgggactacaggcacgcgccaccatgcccagctaatttt       c.*5040

          .         .         .         .         .         .       g.181148
 tggatttttagtagagaaggagtttcaccatgctgaccaggctggtttcgaactcctgac       c.*5100

          .         .         .         .         .         .       g.181208
 ctcaagtgatccgcccgcctgggcctcccagagtgctgagattacaggcgtgagccaccg       c.*5160

          .         .         .         .         .         .       g.181268
 cacctggccaaaaaaaggcattttgatttaggttgctgtgtttgcttgttgataaagaaa       c.*5220

          .         .         .         .         .         .       g.181328
 actcaatcgggacactagttttgtgctcagctttaggccgggtagctaatgggaggatgt       c.*5280

          .         .         .         .         .         .       g.181388
 ccagcctgtcactgtgctcccagcgcaaggaaatgggtgcccacctggaatcaggagaag       c.*5340

          .         .         .         .         .         .       g.181448
 aggcttttccctcctgttctgcaaccagggtggagctatctttccagggaagccagctga       c.*5400

          .         .         .         .         .         .       g.181508
 gaggttttagggctttggttattttatgggggttttaaacctcctaacttttcaatgaca       c.*5460

          .         .         .         .         .         .       g.181568
 aatggctcccaggtgccatagtctctgttaaatcctcaaacattcacaagcacacactgc       c.*5520

          .         .         .         .         .         .       g.181628
 caggggcacgggttgtctttcacctgcatgtttctaaggctctttattcaatctcacggt       c.*5580

          .         .         .         .         .         .       g.181688
 gtcagtgtccagttgtcaaagttatgaatcttcctcctgcttctaaacagggctgacagt       c.*5640

          .         .         .         .         .         .       g.181748
 atactctcgtctagtctaggaacatgtctgctgctgggataccctggtaccaggatttga       c.*5700

          .         .         .         .         .         .       g.181808
 gggccacgggtggcatctctgagagctgaaaatccacagagtgcctgtgggaaagccaag       c.*5760

          .         .         .         .         .         .       g.181868
 cccttggctgtgtggcttttctatcccttggatttacaggtctgggaattggctgcttct       c.*5820

          .         .         .         .         .         .       g.181928
 tagttataaccccagtgacaaatgctggcttaagccacacctgttcccactgttgctaga       c.*5880

          .         .         .         .         .         .       g.181988
 attcaaacagttgctttttttttttctttttgagaaagggcctcactctgttgcccaggc       c.*5940

          .         .         .         .         .         .       g.182048
 tggagtgcagtggcttgatcacagctcacgaaagcctcaaactcctaggctcaagtgatc       c.*6000

          .         .         .         .         .         .       g.182108
 ctcctgaaaagtaggtaggactacaggcacatgccaccacatacagctaatttgttttca       c.*6060

          .         .         .         .         .         .       g.182168
 ttttttttttttttagagacaggatctcgctgtgttccccaggtaggtcttgaactcctg       c.*6120

          .         .         .         .         .         .       g.182228
 gcctcaagtgatcctcctgccttgacctcccaaagtgctggattacaagcgtgagcccct       c.*6180

          .         .         .         .         .         .       g.182288
 gcacccggcccaagcagttgcttctttttttctctttttttttttttttgagatggagcc       c.*6240

          .         .         .         .         .         .       g.182348
 tcactctgttgcccaggctggagtgcagtggcgcgatctccactcactgcaagctccgcc       c.*6300

          .         .         .         .         .         .       g.182408
 tcccgggttcatgccattctcctgcctcagcctcccgagtagctgggactacaggcgcct       c.*6360

          .         .         .         .         .         .       g.182468
 gccaccacacccagctaattttttgtatttttggtacagacagggtttcaccgtgttagc       c.*6420

          .         .         .         .         .         .       g.182528
 caggatggtcttgatctcctgatctcgtgatccgcccaccccggcctcccaaagtgctgg       c.*6480

          .         .         .         .         .         .       g.182588
 attacaagcgtgagccaccgcgccccgccaagcagttgcttcttatgcaacatgttggtt       c.*6540

          .         .         .         .         .         .       g.182648
 gggacttgtccacgggccaggccaataaaattcttaatcctgcagagagtcagtaccctc       c.*6600

          .         .         .         .         .         .       g.182708
 atcaccccatcactggaaaacaaatgttttaagctatcaagagagggaatgtgcagcttt       c.*6660

          .         .         .         .         .         .       g.182768
 tggtttctagatgcatggtttggtgtgatctacctttgtgcctaaagggaatgtcccaaa       c.*6720

          .         .         .         .         .         .       g.182828
 caacagagccttctttgctgtcactccagaattctctacacagaatttcccaagtccatt       c.*6780

          .         .         .         .         .         .       g.182888
 caggacagacgcgcagtcctctttcaatggaagaagagaggacttttcccctcctgaaaa       c.*6840

          .         .         .         .         .         .       g.182948
 atgactggagtgtgaacaaggcagctctgtttttctaaataagttgttcttgtgagtttt       c.*6900

          .         .         .         .         .         .       g.183008
 ttctggccactgggcatctctgccctcacttttcatccctgccctctaagctgcagaccc       c.*6960

          .         .         .         .         .         .       g.183068
 catgaccacactgtctgcttccttgagcttcccgcacgaggcttggacctgggggacctg       c.*7020

          .         .         .         .         .         .       g.183128
 gagaccctgcggacagaactgtggctgagccactgtggccaactcttggggagctccaca       c.*7080

          .         .         .         .         .         .       g.183188
 gtgggggttgctggtctgtgaggctgagtctccatttcagagcacacactccctggcagg       c.*7140

          .         .         .         .         .         .       g.183248
 gcgcctctgcctgtgtctcctgcccagcagccgccagcagggaatagttgctggtgtctg       c.*7200

          .         .         .         .         .         .       g.183308
 agcacaaagagagctttgattacctagagaggaaaaaggctgtcagccagatgcagccag       c.*7260

          .         .         .         .         .         .       g.183368
 gcccaggggtagatacaggagttgctaaggaaggggccgagccaggagaggccaggcaga       c.*7320

          .         .         .         .         .         .       g.183428
 tccacaaagcccaaggggatgcaggctgggtgtggtttctgagggaacctaccaaatagc       c.*7380

          .         .         .         .         .         .       g.183488
 aggtagatggaatcagaggactcttgtgtcctgaaagaacctccttaaaaacaactaaaa       c.*7440

          .         .         .         .         .         .       g.183548
 cgaagaacttctggggctgttcacacattgttcaagtcaccccaagatcgttctggcacg       c.*7500

          .         .         .         .         .         .       g.183608
 ctgagctgaacaccaccatctttgttcattctctctctaatgggcaaagcaggatcatcg       c.*7560

          .         .         .         .         .         .       g.183668
 agttgaaaagttgtaaataatgaggatatttatcccgctatttattttttcaataactgt       c.*7620

          .         .         .         .         .         .       g.183728
 gacctcctgcactgtgaatgctctgtgacatgagattcttagtttaataaaactgtcatt       c.*7680

          .         .         .         .         .         .       g.183788
 aaatttgaatgaattgatattattggttactgaacactggcatgagtttatttttattgt       c.*7740

          .         .         .         .         .         .       g.183848
 gaagaaaaaaatctacagcaatctaaactaaacctttctaagaaatctagcagtcagtat       c.*7800

          .         .         .         .         .                 g.183901
 tgtaatgcaatatatcaaaatctgtacactgtcaataaaataaatgagcacaa              c.*7853

 (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 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 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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