chloride channel, voltage-sensitive 5 (CLCN5) - coding DNA reference sequence

(used for variant description)

(last modified October 20, 2013)


This file was created to facilitate the description of sequence variants on transcript NM_000084.2 in the CLCN5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007159.3, covering CLCN5 transcript NM_000084.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.149998
                                                     cacattct       c.-241

 .         .         .         .         .         .                g.150058
 gaccgccagggaacactggtagttctttaggtggcgtttgttgctgtgaaaggcagagaa       c.-181

 .         .         .         .         .         .                g.150118
 tgcagcaagtgcccttctaaagcacttcagactggggcttcttttgtaaaagctccccaa       c.-121

 .         .         .         .         .         .                g.150178
 cctgaatgaccaaatgcgggctgccaaggttatttcttccttgaggcagaaaaaaagaaa       c.-61

 .         .   | 02     .         .         .         .             g.152356
 actgtgattgaag | aggacaagtcgtacaatggtggaggaataggttcttcaaataggatc    c.-1

          .         .         .         .         .         .       g.152416
 ATGGACTTCTTGGAGGAGCCAATCCCTGGTGTAGGGACCTATGATGATTTCAATACAATT       c.60
 M  D  F  L  E  E  P  I  P  G  V  G  T  Y  D  D  F  N  T  I         p.20

          .         .         .         .      | 03  .         .    g.154934
 GATTGGGTGAGAGAGAAGTCTCGAGACCGGGATAGGCACCGAGAG | ATTACCAATAAAAGC    c.120
 D  W  V  R  E  K  S  R  D  R  D  R  H  R  E   | I  T  N  K  S      p.40

          .         .         .         .         .         .       g.154994
 AAAGAGTCAACATGGGCCTTAATTCACAGTGTGAGTGATGCTTTTTCCGGCTGGTTGTTG       c.180
 K  E  S  T  W  A  L  I  H  S  V  S  D  A  F  S  G  W  L  L         p.60

          .         .      | 04  .         .         .         .    g.158260
 ATGCTCCTTATTGGGCTTTTATCAG | GTTCGTTAGCTGGTTTGATAGACATCTCTGCTCAT    c.240
 M  L  L  I  G  L  L  S  G |   S  L  A  G  L  I  D  I  S  A  H      p.80

          .         .         .         .         .         .       g.158320
 TGGATGACAGACTTAAAAGAAGGTATATGCACAGGGGGATTCTGGTTTAACCATGAACAT       c.300
 W  M  T  D  L  K  E  G  I  C  T  G  G  F  W  F  N  H  E  H         p.100

          .         .         .         .         .         .       g.158380
 TGTTGCTGGAACTCTGAGCATGTCACCTTTGAAGAGAGAGACAAATGTCCAGAGTGGAAT       c.360
 C  C  W  N  S  E  H  V  T  F  E  E  R  D  K  C  P  E  W  N         p.120

          .         .         .    | 05    .         .         .    g.163053
 AGTTGGTCCCAGCTTATCATCAGCACAGATGAG | GGAGCCTTTGCCTACATAGTCAATTAT    c.420
 S  W  S  Q  L  I  I  S  T  D  E   | G  A  F  A  Y  I  V  N  Y      p.140

          .         .         .         .         .         .       g.163113
 TTCATGTACGTCCTCTGGGCTCTCCTATTTGCCTTCCTTGCCGTATCTCTTGTCAAGGTG       c.480
 F  M  Y  V  L  W  A  L  L  F  A  F  L  A  V  S  L  V  K  V         p.160

          .         .         .       | 06 .         .         .    g.164097
 TTTGCGCCTTATGCCTGTGGCTCTGGAATCCCTGAG | ATAAAAACTATCTTGAGTGGTTTC    c.540
 F  A  P  Y  A  C  G  S  G  I  P  E   | I  K  T  I  L  S  G  F      p.180

          .         .         .         .         .         .       g.164157
 ATTATTAGGGGCTATTTGGGTAAGTGGACTCTGGTTATCAAAACCATCACCTTGGTGCTG       c.600
 I  I  R  G  Y  L  G  K  W  T  L  V  I  K  T  I  T  L  V  L         p.200

          .         .         .         .         .         .       g.164217
 GCAGTGTCGTCTGGCTTGAGCCTGGGCAAAGAGGGCCCTCTAGTGCACGTGGCTTGCTGC       c.660
 A  V  S  S  G  L  S  L  G  K  E  G  P  L  V  H  V  A  C  C         p.220

          .         .         .         .         .         .       g.164277
 TGTGGGAACATCCTGTGCCACTGCTTCAACAAATACAGGAAGAATGAAGCCAAGCGCAGA       c.720
 C  G  N  I  L  C  H  C  F  N  K  Y  R  K  N  E  A  K  R  R         p.240

     | 07    .         .         .         .         .         .    g.168469
 GAG | GTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGT    c.780
 E   | V  L  S  A  A  A  A  A  G  V  S  V  A  F  G  A  P  I  G      p.260

          .         .     | 08   .         .         .         .    g.168796
 GGAGTATTATTCAGCCTTGAAGAG | GTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGT    c.840
 G  V  L  F  S  L  E  E   | V  S  Y  Y  F  P  L  K  T  L  W  R      p.280

          .         .         .         .         .         .       g.168856
 TCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAAC       c.900
 S  F  F  A  A  L  V  A  A  F  T  L  R  S  I  N  P  F  G  N         p.300

          .         .         .         .         .         .       g.168916
 AGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTG       c.960
 S  R  L  V  L  F  Y  V  E  F  H  T  P  W  H  L  F  E  L  V         p.320

          .         .         .         .         .         .       g.168976
 CCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAAC       c.1020
 P  F  I  L  L  G  I  F  G  G  L  W  G  A  L  F  I  R  T  N         p.340

          .         .         .         .         .         .       g.169036
 ATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTA       c.1080
 I  A  W  C  R  K  R  K  T  T  Q  L  G  K  Y  P  V  I  E  V         p.360

          .         .         .         .         .         .       g.169096
 CTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGC       c.1140
 L  V  V  T  A  I  T  A  I  L  A  F  P  N  E  Y  T  R  M  S         p.380

          .         .         .         .         .         .       g.169156
 ACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTC       c.1200
 T  S  E  L  I  S  E  L  F  N  D  C  G  L  L  D  S  S  K  L         p.400

          .         .         .         .         .         .       g.169216
 TGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCT       c.1260
 C  D  Y  E  N  R  F  N  T  S  K  G  G  E  L  P  D  R  P  A         p.420

          .         .         .         .         .         .       g.169276
 GGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTC       c.1320
 G  V  G  V  Y  S  A  M  W  Q  L  A  L  T  L  I  L  K  I  V         p.440

          .         .        | 09.         .         .         .    g.171163
 ATTACTATATTCACCTTTGGCATGAAG | ATCCCTTCTGGCCTCTTTATCCCTAGCATGGCT    c.1380
 I  T  I  F  T  F  G  M  K   | I  P  S  G  L  F  I  P  S  M  A      p.460

          .         .         .         .         .         .       g.171223
 GTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCAC       c.1440
 V  G  A  I  A  G  R  L  L  G  V  G  M  E  Q  L  A  Y  Y  H         p.480

          .         .         .         .         .         .       g.171283
 CAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGC       c.1500
 Q  E  W  T  V  F  N  S  W  C  S  Q  G  A  D  C  I  T  P  G         p.500

          .         .         .     | 10   .         .         .    g.172574
 CTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAG | GTGGGGTGACTCGGATGACTGTTTCT    c.1560
 L  Y  A  M  V  G  A  A  A  C  L  G |   G  V  T  R  M  T  V  S      p.520

          .         .         .         .         .         .       g.172634
 CTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCT       c.1620
 L  V  V  I  M  F  E  L  T  G  G  L  E  Y  I  V  P  L  M  A         p.540

          .         .         .         .         .         .       g.172694
 GCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCC       c.1680
 A  A  M  T  S  K  W  V  A  D  A  L  G  R  E  G  I  Y  D  A         p.560

          .         .         .         .         .         .       g.172754
 CACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACC       c.1740
 H  I  R  L  N  G  Y  P  F  L  E  A  K  E  E  F  A  H  K  T         p.580

          .         .         .         .         .         .       g.172814
 CTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAG       c.1800
 L  A  M  D  V  M  K  P  R  R  N  D  P  L  L  T  V  L  T  Q         p.600

          .         .         .         .         .         .       g.172874
 GACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTC       c.1860
 D  S  M  T  V  E  D  V  E  T  I  I  S  E  T  T  Y  S  G  F         p.620

          .         .         .         .         .         .       g.172934
 CCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTC       c.1920
 P  V  V  V  S  R  E  S  Q  R  L  V  G  F  V  L  R  R  D  L         p.640

          .    | 11    .         .         .         .         .    g.173149
 ATTATTTCAATTG | AAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATT    c.1980
 I  I  S  I  E |   N  A  R  K  K  Q  D  G  V  V  S  T  S  I  I      p.660

          .         .         .         .         .         .       g.173209
 TATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGG       c.2040
 Y  F  T  E  H  S  P  P  L  P  P  Y  T  P  P  T  L  K  L  R         p.680

          .         .         .         .         .         .       g.173269
 AACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTG       c.2100
 N  I  L  D  L  S  P  F  T  V  T  D  L  T  P  M  E  I  V  V         p.700

          .         .         .         .         . | 12       .    g.174571
 GATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGG | GCGATTGCTT    c.2160
 D  I  F  R  K  L  G  L  R  Q  C  L  V  T  H  N  G  |  R  L  L      p.720

          .         .         .         .         .         .       g.174631
 GGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCGAACCAAGATCCT       c.2220
 G  I  I  T  K  K  D  V  L  K  H  I  A  Q  M  A  N  Q  D  P         p.740

          .         .                                               g.174652
 GATTCCATTCTCTTCAACTAG                                              c.2241
 D  S  I  L  F  N  X                                                p.746

          .         .         .         .         .         .       g.174712
 aatcatagagttctggatgtaaagcgggaaggacattacagaccatggatatgttgtatt       c.*60

          .         .         .         .         .         .       g.174772
 aactgggtacccaaaacacattttccatatttggatggtgaagtcacattagtgtgttgt       c.*120

          .         .         .         .         .         .       g.174832
 ctctttcctacaagttaaccagttgcactacataatctctggaaattaattttctcttta       c.*180

          .         .         .         .         .         .       g.174892
 ggagaaattatagttaggcttccatgatgttacattaggaagatatcatgaaagaataaa       c.*240

          .         .         .         .         .         .       g.174952
 taagattgctatggtttaattatatttgctttttaaaagatttttttaacttaaaaagta       c.*300

          .         .         .         .         .         .       g.175012
 gttagccaatatgcaatcactgaaaactatgcaagagaaattccaaccgtcctgacctat       c.*360

          .         .         .         .         .         .       g.175072
 aacctgtaggaaaccgacgaaaaagtcactcttttgggatctaactgttgttactggaag       c.*420

          .         .         .         .         .         .       g.175132
 acgaagtgtaaactaaggggctttgcttttcaaaccagagaaaggaaagccagaaggaaa       c.*480

          .         .         .         .         .         .       g.175192
 agagtaatggtattttctagactgtgaagattcagttcaaatgttatccttgttcctgtt       c.*540

          .         .         .         .         .         .       g.175252
 acaatatttagcattattagtttgttatgtgtgtatgtttatgttaattttaatttctga       c.*600

          .         .         .         .         .         .       g.175312
 ttataagacaatgctgctttggttaatctcttctaaatgaatttagagagattgactttt       c.*660

          .         .         .         .         .         .       g.175372
 atagcttgcttgttgctggtactcttttgaagtgcacaaagataagttatagagctttct       c.*720

          .         .         .         .         .         .       g.175432
 ccttgtctgcaaaaacggtaattttccaggtggcatttgttagctggtagacaaggactt       c.*780

          .         .         .         .         .         .       g.175492
 tgccgtgaatttgttagtagcaaggaatgatttcttccagcttccttgaaatgaataatt       c.*840

          .         .         .         .         .         .       g.175552
 agtaaacttctaagcaaagtcaatgactaggagtttcacatgtttgtgaggtcctaacta       c.*900

          .         .         .         .         .         .       g.175612
 attctcttacccagatgccacctccatgaatgatggtgctttaggcttctggaatatgta       c.*960

          .         .         .         .         .         .       g.175672
 aaaacagcaaagggaaccaagtctagactgcatactggtaaaccagggaagactcagaac       c.*1020

          .         .         .         .         .         .       g.175732
 tgcatatgcatcctcatgcattcctttgtaaagaccaccagtactaaaataactggacac       c.*1080

          .         .         .         .         .         .       g.175792
 tcattgtacctcccagcgataagtatgtgtaacaggccagtgtgttgtccccatgatcat       c.*1140

          .         .         .         .         .         .       g.175852
 gaattaggcttgggatgcttccaaatatattcaaggtgttggaacaggataggcagctgt       c.*1200

          .         .         .         .         .         .       g.175912
 gactccctcaagagtccttagaattctaaataaaatgcagagccatcctaagacacaggg       c.*1260

          .         .         .         .         .         .       g.175972
 gtatggacaaggcctggtgacaccaaaggtgcttgtatccaattgaaaaggtgcctgtct       c.*1320

          .         .         .         .         .         .       g.176032
 caatttcataccacctttattgcagttaaaaaaaaatcacactctggggacacttggtgg       c.*1380

          .         .         .         .         .         .       g.176092
 aattacagagccaccatcatcattccaaccactatttcattttctgtagttttacctgtg       c.*1440

          .         .         .         .         .         .       g.176152
 tgcaattactccccctccattctgttccacttcttactccttagtaccaaatcctctgtt       c.*1500

          .         .         .         .         .         .       g.176212
 tgggattgagcgctgctcctggttaatcattcctactacaaaaaaaaataactcccaggg       c.*1560

          .         .         .         .         .         .       g.176272
 ctagttaaattgtaaaccaaggctcagcagtctcacaacacatggaccagaggtgacaca       c.*1620

          .         .         .         .         .         .       g.176332
 cagccatttcctttgccatgtggcccagttgctgctgccatgcctccatttccacactgg       c.*1680

          .         .         .         .         .         .       g.176392
 atgcctacggcagtgagatttcactgccggggtaagagttcagcctggatgattttatag       c.*1740

          .         .         .         .         .         .       g.176452
 ctctgttcctagcacttctcatcatccttccagcccagaatcagcggtcattctgcatat       c.*1800

          .         .         .         .         .         .       g.176512
 tcccaccaaccctctacccccaaacacttcagtgtacctcattttaagagttgctgatcc       c.*1860

          .         .         .         .         .         .       g.176572
 ctgattctaggacgtttttacccatagttcttgtctttccaaaatctgaaattctttttt       c.*1920

          .         .         .         .         .         .       g.176632
 ttgctcagaactgggtagccaagggttattttatttttatctttaaaataatcaaggcag       c.*1980

          .         .         .         .         .         .       g.176692
 tcgctagagtttctccttgtgaatagatcactctagcattttaatgaaaaagaaaaaaat       c.*2040

          .         .         .         .         .         .       g.176752
 ctttctggggtatgttgtatcatagtaatggctcagtaaccacatattttgtcctttcca       c.*2100

          .         .         .         .         .         .       g.176812
 tgtcactgattccttcatatgagactatttggcttgactaccctgtatattgtgtagaaa       c.*2160

          .         .         .         .         .         .       g.176872
 tcaaagttcttatctgtacatttctggtccaatacctgtcttattagttgtccttcccca       c.*2220

          .         .         .         .         .         .       g.176932
 ctaaagtttgcaaaacagaaaatgttactatttctggtatttaatgacaatgaaaggttt       c.*2280

          .         .         .         .         .         .       g.176992
 ggtcatatttcatagtgcagtagcgataaggagggtgtctcaagtttgcttttgtgtttc       c.*2340

          .         .         .         .         .         .       g.177052
 ttctaggctttgttcttgattttagacagatgagccagtgttaaggtgctacttcagaga       c.*2400

          .         .         .         .         .         .       g.177112
 ataaattagagaaatcagataacactgtgccaaggtatactttgtagatgctaagcaccg       c.*2460

          .         .         .         .         .         .       g.177172
 attggccctccagagaatgacaatatccctttgatacctcactcctgatcaatctcattc       c.*2520

          .         .         .         .         .         .       g.177232
 attaacctcagcttctcaggaatccttgtagcttgtatgctagaagtagctatggtatat       c.*2580

          .         .         .         .         .         .       g.177292
 ggtatccactatatgtccagtcctatggtttggctcaaaggttggctaattgcagctaga       c.*2640

          .         .         .         .         .         .       g.177352
 gctctcaactgctagctcagcaccttgacatttgaagtttcttgtcttgaggagaaggaa       c.*2700

          .         .         .         .         .         .       g.177412
 aatgttctttctgccattgccactttaacagttggacatgcttaagcaacaaatacagcc       c.*2760

          .         .         .         .         .         .       g.177472
 agtatagggaggactgtcagtagcatcaaatggccacatacctcaatggcaaaagactag       c.*2820

          .         .         .         .         .         .       g.177532
 atggtttgtgatttaaaaattaatgagtcgagatgagactattttggtattaaatgagaa       c.*2880

          .         .         .         .         .         .       g.177592
 aattgcctaacacaagggaagggtttacaaaagaatgccaattagtgtttcaacagagtt       c.*2940

          .         .         .         .         .         .       g.177652
 aggattttccaagtaagagtagctggtagccatccagccataaaaggaacgagagtctat       c.*3000

          .         .         .         .         .         .       g.177712
 agatttgtaaaagtaaaactgctatattttgtatcttcaaatcttcaatataaagaattt       c.*3060

          .         .         .         .         .         .       g.177772
 aaagaacctgaaacagttaatgcatgattcgttatattggagggaaaaagcaggggactg       c.*3120

          .         .         .         .         .         .       g.177832
 ataatacaaaataatggcaactttaaagatcatttctacgtggatgtttggttagaaaca       c.*3180

          .         .         .         .         .         .       g.177892
 tattccaatgctctcctctttctctggccacagcatcctggctcagcccagctgtggagt       c.*3240

          .         .         .         .         .         .       g.177952
 agaggtggtaagatccacagaacagatatcctctggtagataagctgacattgatgatac       c.*3300

          .         .         .         .         .         .       g.178012
 tttgaatttaccagctggtgaagcaaacgattaatttgtgattgaactgaaaagcagttg       c.*3360

          .         .         .         .         .         .       g.178072
 aattgttttgacaccagaggctgaatctaaaccctttacaggaagagcagagcatactat       c.*3420

          .         .         .         .         .         .       g.178132
 acatttcttagcagatcttcaattctgtttgaacatgatgaagtaaccagggtttagtga       c.*3480

          .         .         .         .         .         .       g.178192
 gatctaaggccgtgaagtaattcacaaccaagatcttatgaacgcattcagatgtgaggg       c.*3540

          .         .         .         .         .         .       g.178252
 gggcaaatatgttttcaaaaacttagtgtgcaatagagtccattatagaaattaaccact       c.*3600

          .         .         .         .         .         .       g.178312
 gctatatgttttaagtagttcaatcacctgttgtggttcagtcttgattattgtttattt       c.*3660

          .         .         .         .         .         .       g.178372
 tgttaggtgataagtaggaagatgcacttgttatcccacactatctcttgttttgttttg       c.*3720

          .         .         .         .         .         .       g.178432
 ttttgtttttaaataatgaacagtgcaatctttgaacttgagtttttaataatgatagca       c.*3780

          .         .         .         .         .         .       g.178492
 aagacaatggtgagaacttgaaacagccagcatattttatattgccaaagtacttactga       c.*3840

          .         .         .         .         .         .       g.178552
 tgactgaccacactgtcttgtgaggaactgggtcccctgcactggatcagagccaaatgc       c.*3900

          .         .         .         .         .         .       g.178612
 aagccacccatcagttcagaggaagcaggaaaacatcttttgggtggtgcatagaacatt       c.*3960

          .         .         .         .         .         .       g.178672
 gagctcttaaaaacccggagaaaaattaggaatttagaaagtaagtgggaggtagaatat       c.*4020

          .         .         .         .         .         .       g.178732
 tgagtccttttttaaaaaaaagaattgatgtctaaatatgtagtctgaacttaagtgtcc       c.*4080

          .         .         .         .         .         .       g.178792
 taaaaccttgttttttgtttttttgttttttgaggagtcgtcttgctctatcaccaggtg       c.*4140

          .         .         .         .         .         .       g.178852
 ggagtgcagtggcacaatctcggctcactgtaacctctgcctcctgcctcccgggtccaa       c.*4200

          .         .         .         .         .         .       g.178912
 gcaattcccctgcctcagtctcccaagtaggtgggactacaggcgcacaccaccatgccc       c.*4260

          .         .         .         .         .         .       g.178972
 agctaacttttgtatttttagtagagacggggtttcaccatgttggccaggatggtctcg       c.*4320

          .         .         .         .         .         .       g.179032
 atctcttgacctcgtgatccacccatctcggcctcccaaagtgctgggattataggtgtg       c.*4380

          .         .         .         .         .         .       g.179092
 agccaccgcacccagccaaaccttgatttttttagccacctctgggattgcctgggttcc       c.*4440

          .         .         .         .         .         .       g.179152
 ctttggagaagaaactaaaagttatggccatagaaaaagccctggtaagaaaatatttga       c.*4500

          .         .         .         .         .         .       g.179212
 atggtgtaagatggtggaaggaaagccatcccacacccctacaacatatgttctggcatt       c.*4560

          .         .         .         .         .         .       g.179272
 tataaactgcttgattgtgtgcctcaaggggagaaaaagtcaagcaatgcttcaaaggcc       c.*4620

          .         .         .         .         .         .       g.179332
 aggctttctaagcaaatgagtggttcaaagcagtgtttggctcaagggcagtctggtttt       c.*4680

          .         .         .         .         .         .       g.179392
 atggatagggccgacccaagacatctgctcatgaagaaatgtggcatctgttgccatttc       c.*4740

          .         .         .         .         .         .       g.179452
 ctaaactataaggtttagatagattgtcttgaattttgatagcaaatttttttaaattta       c.*4800

          .         .         .         .         .         .       g.179512
 tatttctgcctcctcgtacatccttatatatggaaaaaaaagtaagagttcctcagatca       c.*4860

          .         .         .         .         .         .       g.179572
 gagctcagtagctgtgtcaatttgaagttcaatcagtgtagttgtcctggggtgatcgct       c.*4920

          .         .         .         .         .         .       g.179632
 gactctgctctgtttcatatttcagttgcttgctccaaggagagaatttctgagaacaat       c.*4980

          .         .         .         .         .         .       g.179692
 gggtgttagcaactttaagttactccccaaacgtttgctggccacattctcatttctaaa       c.*5040

          .         .         .         .         .         .       g.179752
 catctggatctgggtaaaggtttgaatagatgtagggaacaaaattggtttttccatggt       c.*5100

          .         .         .         .         .         .       g.179812
 gtagtctaattttgccaaatcacccaagaaagaaagtatatgacgtgtggagtttgcatt       c.*5160

          .         .         .         .         .         .       g.179872
 tcttggatgggacctatcgggtcacccagcccagtcttacagtcataaattcctacctct       c.*5220

          .         .         .         .         .         .       g.179932
 tagttcctgccaaagggccttcagcctctgtgtgcacacttattgaatgaatgctttgcc       c.*5280

          .         .         .         .         .         .       g.179992
 taaagtttggccttttgaagaaaaacagcatgtgataatataaaaatatgagagtttaaa       c.*5340

          .         .         .         .         .         .       g.180052
 aaaaaaaaagatctctgcctctcttctctctgcctcgtcccaccttgctgtctgtctcat       c.*5400

          .         .         .         .         .         .       g.180112
 tgtctttctctcccctcaccatgcgctgaattcagatttctctttcttttattataggca       c.*5460

          .         .         .         .         .         .       g.180172
 tgttgttttgaatgtggactttgtgggagggagaggattgttctgagaacagaaactgga       c.*5520

          .         .         .         .         .         .       g.180232
 agatacgtctgagttgatgggaccaacagggctttgctcctctgtgagggccaaagccat       c.*5580

          .         .         .         .         .         .       g.180292
 tgatacttgtcgggggtgatgagggctttagcatctcaaggcagacatatgaagtattta       c.*5640

          .         .         .         .         .         .       g.180352
 ctgctaaactatattacttactagtacaaatctgttggaattcaggggcagtctaagatt       c.*5700

          .         .         .         .         .         .       g.180412
 tggtgagtgaaatgccatctggcaaaatcgagaagagagtgtggcctgagaggggaatgt       c.*5760

          .         .         .         .         .         .       g.180472
 tcagcctcactgtcacattaagggtacctcaaaatacatggtccttccagtgtgttcctt       c.*5820

          .         .         .         .         .         .       g.180532
 ttccttcctccatttcactttgtcccctcttcttcctttctctcccattttcctggcttt       c.*5880

          .         .         .         .         .         .       g.180592
 ttagcactcagcttttttttataagtatgtatttactttttattatatatttggtccttt       c.*5940

          .         .         .         .         .         .       g.180652
 gggactttgtgatgattaagaatttattccattcaggattttaaaatgatgtgtttaata       c.*6000

          .         .         .         .         .         .       g.180712
 ttttgttctcttaaactcttttgaagctatgctgctaaccaggtataggccagaaaggag       c.*6060

          .         .         .         .         .         .       g.180772
 gtggcccagtcagtaccttgctcacgtcagctaagggggacagtgatgtcatgtgggtga       c.*6120

          .         .         .         .         .         .       g.180832
 ctcttcttcatttgaccaaggccagcctcctgttcttacctctgcccattcatttctggc       c.*6180

          .         .         .         .         .         .       g.180892
 tatgggaaaactaccacctgttgagtgagccaatgaggccaggaagatcagaggggctgg       c.*6240

          .         .         .         .         .         .       g.180952
 gttccggcccatgggccactatttgaatttctctgtagtaagctctttgtagggctggct       c.*6300

          .         .         .         .         .         .       g.181012
 ccaactgcagtagccaaagaaaacctgtctgactcgacattttaatgcctgagagttggt       c.*6360

          .         .         .         .         .         .       g.181072
 gaaagttcagctgaagctaatgtctagacatcagcagtaactaggcatccagaaagtagc       c.*6420

          .         .         .         .         .         .       g.181132
 ttcaaccaaagctaatagagcccaagtttccgcaggaagtttggtgctgagctgtccaga       c.*6480

          .         .         .         .         .         .       g.181192
 gcagttgtttatctgagtgttgctagcccttagccatgctttcttagctttattctcgcc       c.*6540

          .         .         .         .         .         .       g.181252
 tgttcctaggcatagcctgaaccagagctatggctcactgctcgctttattctactccct       c.*6600

          .         .         .         .         .         .       g.181312
 agtcatgcggaacaacatagtctaaaaaggaagatgtggactggggagttaggagacctg       c.*6660

          .         .         .         .         .         .       g.181372
 atttctattccctatgcttctactaactagcctcgagatcttaaccgctctgtgcctcag       c.*6720

          .         .         .         .         .         .       g.181432
 tgttcccatctgcaaaatggggatagtgttaattgccctacctacctcacagggttgttg       c.*6780

          .         .         .         .         .         .       g.181492
 tgaggataaactgagacaatgaattcaaagcaagttgacaagtaagtgctatgcaaattg       c.*6840

          .         .         .         .         .         .       g.181552
 taagaaatggaaacaatcatgttaaaagcaatggaatggacattggcagaagggttaatg       c.*6900

          .         .         .         .         .         .       g.181612
 gattgtccagccctttctctgtgtggcttaaacccaggtcgccattgctttatacatttt       c.*6960

          .         .         .         .         .                 g.181668
 cacttagcacagatttgtaattatgcatgtaataaagcacagccttatccaccctg           c.*7016

 (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 Chloride channel, voltage-sensitive 5 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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