Canonical Allele Identifier: CA413503268
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013946
ClinVar RCV Id: RCV001312609
dbSNP Id: rs1602349730

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71224309G>C , CM000685.2:g.71224309G>C GRCh38
NC_000023.10:g.70444159G>C , CM000685.1:g.70444159G>C GRCh37
NC_000023.9:g.70360884G>C NCBI36
NG_008357.1:g.14098G>C , LRG_245:g.14098G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361726.7:c.602G>C MANE Select ENSP00000354900.6:p.Cys201Ser
ENST00000374029.2:c.602G>C ENSP00000363141.1:p.Cys201Ser
ENST00000447581.2:c.602G>C ENSP00000407223.2:p.Cys201Ser
ENST00000645009.2:c.602G>C ENSP00000494142.2:p.Cys201Ser
ENST00000646835.1:c.602G>C ENSP00000494596.1:p.Cys201Ser
ENST00000647424.1:c.602G>C ENSP00000495960.1:p.Cys201Ser
ENST00000674549.1:c.602G>C ENSP00000502766.1:p.Cys201Ser
ENST00000674844.1:c.602G>C ENSP00000502556.1:p.Cys201Ser
ENST00000675209.1:c.602G>C ENSP00000501813.1:p.Cys201Ser
ENST00000675368.1:c.602G>C ENSP00000501757.1:p.Cys201Ser
ENST00000675609.1:c.602G>C ENSP00000501571.1:p.Cys201Ser
ENST00000361726.6:c.602G>C ENSP00000354900.6:p.Cys201Ser
ENST00000374022.3:c.602G>C ENSP00000363134.3:p.Cys201Ser
ENST00000374029.1:c.602G>C ENSP00000363141.1:p.Cys201Ser
NM_000166.5:c.602G>C NP_000157.1:p.Cys201Ser
NM_001097642.2:c.602G>C , LRG_245t1:c.602G>C NP_001091111.1:p.Cys201Ser
XM_011530907.1:c.602G>C XP_011529209.1:p.Cys201Ser
XM_011530907.2:c.602G>C XP_011529209.1:p.Cys201Ser
NM_000166.6:c.602G>C MANE Select NP_000157.1:p.Cys201Ser
NM_001097642.3:c.602G>C NP_001091111.1:p.Cys201Ser