Canonical Allele Identifier: CA2694031967

Gene: GJB1

Linked Data

• gnomAD v4: X-71223175-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223175C>A , CM000685.2:g.71223175C>A	GRCh38
NC_000023.10:g.70443025C>A , CM000685.1:g.70443025C>A	GRCh37
NC_000023.9:g.70359750C>A	NCBI36
NG_008357.1:g.12964C>A , LRG_245:g.12964C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374029.2:c.-16-517C>A	ENSP00000363141.1:n.-16-517C>A
ENST00000447581.2:c.-17+409C>A	ENSP00000407223.2:n.-17+409C>A
ENST00000645009.2:c.-16-517C>A	ENSP00000494142.2:n.-16-517C>A
ENST00000646835.1:c.-132-45C>A	ENSP00000494596.1:n.-132-45C>A
ENST00000647424.1:c.-16-517C>A	ENSP00000495960.1:n.-16-517C>A
ENST00000674549.1:c.-16-517C>A	ENSP00000502766.1:n.-16-517C>A
ENST00000674844.1:c.-16-517C>A	ENSP00000502556.1:n.-16-517C>A
ENST00000675209.1:c.-16-517C>A	ENSP00000501813.1:n.-16-517C>A
ENST00000675368.1:c.-16-517C>A	ENSP00000501757.1:n.-16-517C>A
ENST00000675609.1:c.-165-12C>A	ENSP00000501571.1:n.-165-12C>A
ENST00000374022.3:c.-16-517C>A	ENSP00000363134.3:n.-16-517C>A
ENST00000374029.1:c.-16-517C>A	ENSP00000363141.1:n.-16-517C>A
ENST00000447581.1:c.-17+409C>A	ENSP00000407223.1:n.-17+409C>A
NM_001097642.2:c.-16-517C>A , LRG_245t1:c.-16-517C>A	NP_001091111.1:n.-16-517C>A
XM_011530907.1:c.-17+409C>A	XP_011529209.1:n.-17+409C>A
XM_011530907.2:c.-17+409C>A	XP_011529209.1:n.-17+409C>A
NM_001097642.3:c.-16-517C>A	NP_001091111.1:n.-16-517C>A