Canonical Allele Identifier: CA2499226830

Gene: GJB1

Linked Data

• ClinVar Variation Id: 10445
• ClinVar RCV Id: RCV000011190
• dbSNP Id: rs1003232768
• gnomAD v4: X-71223179-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223179T>G , CM000685.2:g.71223179T>G	GRCh38
NC_000023.10:g.70443029T>G , CM000685.1:g.70443029T>G	GRCh37
NC_000023.9:g.70359754T>G	NCBI36
NG_008357.1:g.12968T>G , LRG_245:g.12968T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374029.2:c.-16-513T>G	ENSP00000363141.1:n.-16-513T>G
ENST00000447581.2:c.-17+413T>G	ENSP00000407223.2:n.-17+413T>G
ENST00000645009.2:c.-16-513T>G	ENSP00000494142.2:n.-16-513T>G
ENST00000646835.1:c.-132-41T>G	ENSP00000494596.1:n.-132-41T>G
ENST00000647424.1:c.-16-513T>G	ENSP00000495960.1:n.-16-513T>G
ENST00000674549.1:c.-16-513T>G	ENSP00000502766.1:n.-16-513T>G
ENST00000674844.1:c.-16-513T>G	ENSP00000502556.1:n.-16-513T>G
ENST00000675209.1:c.-16-513T>G	ENSP00000501813.1:n.-16-513T>G
ENST00000675368.1:c.-16-513T>G	ENSP00000501757.1:n.-16-513T>G
ENST00000675609.1:c.-165-8T>G	ENSP00000501571.1:n.-165-8T>G
ENST00000374022.3:c.-16-513T>G	ENSP00000363134.3:n.-16-513T>G
ENST00000374029.1:c.-16-513T>G	ENSP00000363141.1:n.-16-513T>G
ENST00000447581.1:c.-17+413T>G	ENSP00000407223.1:n.-17+413T>G
NM_001097642.2:c.-16-513T>G , LRG_245t1:c.-16-513T>G	NP_001091111.1:n.-16-513T>G
XM_011530907.1:c.-17+413T>G	XP_011529209.1:n.-17+413T>G
XM_011530907.2:c.-17+413T>G	XP_011529209.1:n.-17+413T>G
NM_001097642.3:c.-16-513T>G	NP_001091111.1:n.-16-513T>G