Canonical Allele Identifier: CA340967

Gene: GJB1

Linked Data

• ClinVar Variation Id: 10433
• ClinVar RCV Id: RCV000011178 ; RCV000545060 ; RCV000789810 ; RCV002326673 ; RCV002274895
• dbSNP Id: rs104894812
• gnomAD v2: X-70443972-G-A
• gnomAD v4: X-71224122-G-A
• MyVariant Identifiers: chrX:g.70443972G>A (hg19) ; chrX:g.71224122G>A (hg38)
• PubMed: PMID:7477983 ; PMID:8266101 ; PMID:20301548

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71224122G>A , CM000685.2:g.71224122G>A	GRCh38
NC_000023.10:g.70443972G>A , CM000685.1:g.70443972G>A	GRCh37
NC_000023.9:g.70360697G>A	NCBI36
NG_008357.1:g.13911G>A , LRG_245:g.13911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361726.7:c.415G>A MANE Select	ENSP00000354900.6:p.Val139Met
ENST00000374029.2:c.415G>A	ENSP00000363141.1:p.Val139Met
ENST00000447581.2:c.415G>A	ENSP00000407223.2:p.Val139Met
ENST00000645009.2:c.415G>A	ENSP00000494142.2:p.Val139Met
ENST00000646835.1:c.415G>A	ENSP00000494596.1:p.Val139Met
ENST00000647424.1:c.415G>A	ENSP00000495960.1:p.Val139Met
ENST00000674549.1:c.415G>A	ENSP00000502766.1:p.Val139Met
ENST00000674844.1:c.415G>A	ENSP00000502556.1:p.Val139Met
ENST00000675209.1:c.415G>A	ENSP00000501813.1:p.Val139Met
ENST00000675368.1:c.415G>A	ENSP00000501757.1:p.Val139Met
ENST00000675609.1:c.415G>A	ENSP00000501571.1:p.Val139Met
ENST00000361726.6:c.415G>A	ENSP00000354900.6:p.Val139Met
ENST00000374022.3:c.415G>A	ENSP00000363134.3:p.Val139Met
ENST00000374029.1:c.415G>A	ENSP00000363141.1:p.Val139Met
NM_000166.5:c.415G>A	NP_000157.1:p.Val139Met
NM_001097642.2:c.415G>A , LRG_245t1:c.415G>A	NP_001091111.1:p.Val139Met
XM_011530907.1:c.415G>A	XP_011529209.1:p.Val139Met
XM_011530907.2:c.415G>A	XP_011529209.1:p.Val139Met
NM_000166.6:c.415G>A MANE Select	NP_000157.1:p.Val139Met
NM_001097642.3:c.415G>A	NP_001091111.1:p.Val139Met