Canonical Allele Identifier: CA1134115052

Gene: GJB1

Linked Data

• dbSNP Id: rs2092540881
• gnomAD v3: X-71223191-T-C
• gnomAD v4: X-71223191-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223191T>C , CM000685.2:g.71223191T>C	GRCh38
NC_000023.10:g.70443041T>C , CM000685.1:g.70443041T>C	GRCh37
NC_000023.9:g.70359766T>C	NCBI36
NG_008357.1:g.12980T>C , LRG_245:g.12980T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374029.2:c.-16-501T>C	ENSP00000363141.1:n.-16-501T>C
ENST00000447581.2:c.-17+425T>C	ENSP00000407223.2:n.-17+425T>C
ENST00000645009.2:c.-16-501T>C	ENSP00000494142.2:n.-16-501T>C
ENST00000646835.1:c.-132-29T>C	ENSP00000494596.1:n.-132-29T>C
ENST00000647424.1:c.-16-501T>C	ENSP00000495960.1:n.-16-501T>C
ENST00000674549.1:c.-16-501T>C	ENSP00000502766.1:n.-16-501T>C
ENST00000674844.1:c.-16-501T>C	ENSP00000502556.1:n.-16-501T>C
ENST00000675209.1:c.-16-501T>C	ENSP00000501813.1:n.-16-501T>C
ENST00000675368.1:c.-16-501T>C	ENSP00000501757.1:n.-16-501T>C
ENST00000675609.1:c.-161T>C	ENSP00000501571.1:n.-161T>C
ENST00000374022.3:c.-16-501T>C	ENSP00000363134.3:n.-16-501T>C
ENST00000374029.1:c.-16-501T>C	ENSP00000363141.1:n.-16-501T>C
ENST00000447581.1:c.-17+425T>C	ENSP00000407223.1:n.-17+425T>C
NM_001097642.2:c.-16-501T>C , LRG_245t1:c.-16-501T>C	NP_001091111.1:n.-16-501T>C
XM_011530907.1:c.-17+425T>C	XP_011529209.1:n.-17+425T>C
XM_011530907.2:c.-17+425T>C	XP_011529209.1:n.-17+425T>C
NM_001097642.3:c.-16-501T>C	NP_001091111.1:n.-16-501T>C