Canonical Allele Identifier: CA10445316

Gene: GJB1

Linked Data

• ClinVar Variation Id: 477602
• ClinVar RCV Id: RCV000558127 ; RCV000789820 ; RCV002350395 ; RCV002483509
• dbSNP Id: rs770116247
• ExAC: X:70444122 G / A
• gnomAD v2: X-70444122-G-A
• gnomAD v3: X-71224272-G-A
• gnomAD v4: X-71224272-G-A
• COSMIC: COSM403506
• MyVariant Identifiers: chrX:g.70444122G>A (hg19) ; chrX:g.71224272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71224272G>A , CM000685.2:g.71224272G>A	GRCh38
NC_000023.10:g.70444122G>A , CM000685.1:g.70444122G>A	GRCh37
NC_000023.9:g.70360847G>A	NCBI36
NG_008357.1:g.14061G>A , LRG_245:g.14061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361726.7:c.565G>A MANE Select	ENSP00000354900.6:p.Val189Ile
ENST00000374029.2:c.565G>A	ENSP00000363141.1:p.Val189Ile
ENST00000447581.2:c.565G>A	ENSP00000407223.2:p.Val189Ile
ENST00000645009.2:c.565G>A	ENSP00000494142.2:p.Val189Ile
ENST00000646835.1:c.565G>A	ENSP00000494596.1:p.Val189Ile
ENST00000647424.1:c.565G>A	ENSP00000495960.1:p.Val189Ile
ENST00000674549.1:c.565G>A	ENSP00000502766.1:p.Val189Ile
ENST00000674844.1:c.565G>A	ENSP00000502556.1:p.Val189Ile
ENST00000675209.1:c.565G>A	ENSP00000501813.1:p.Val189Ile
ENST00000675368.1:c.565G>A	ENSP00000501757.1:p.Val189Ile
ENST00000675609.1:c.565G>A	ENSP00000501571.1:p.Val189Ile
ENST00000361726.6:c.565G>A	ENSP00000354900.6:p.Val189Ile
ENST00000374022.3:c.565G>A	ENSP00000363134.3:p.Val189Ile
ENST00000374029.1:c.565G>A	ENSP00000363141.1:p.Val189Ile
NM_000166.5:c.565G>A	NP_000157.1:p.Val189Ile
NM_001097642.2:c.565G>A , LRG_245t1:c.565G>A	NP_001091111.1:p.Val189Ile
XM_011530907.1:c.565G>A	XP_011529209.1:p.Val189Ile
XM_011530907.2:c.565G>A	XP_011529209.1:p.Val189Ile
NM_000166.6:c.565G>A MANE Select	NP_000157.1:p.Val189Ile
NM_001097642.3:c.565G>A	NP_001091111.1:p.Val189Ile