Canonical Allele Identifier: CA754605

Gene: GJB4 SMIM12

Linked Data

• ClinVar Variation Id: 252789
• ClinVar RCV Id: RCV000238662 ; RCV002057269 ; RCV003977709
• dbSNP Id: rs79193415
• ExAC: 1:35227362 C / G
• gnomAD v2: 1-35227362-C-G
• gnomAD v3: 1-34761761-C-G
• gnomAD v4: 1-34761761-C-G
• MyVariant Identifiers: chr1:g.35227362C>G (hg19) ; chr1:g.34761761C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761761C>G , CM000663.2:g.34761761C>G	GRCh38
NC_000001.10:g.35227362C>G , CM000663.1:g.35227362C>G	GRCh37
NC_000001.9:g.34999949C>G	NCBI36
NG_016243.1:g.7021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.507C>G (GJB4) MANE Select	ENSP00000345868.1:p.Cys169Trp
ENST00000339480.1:c.507C>G (GJB4)	ENSP00000345868.1:p.Cys169Trp
ENST00000426886.1:c.208-43352G>C (SMIM12)	ENSP00000429902.1:n.208-43352G>C
NM_153212.2:c.507C>G (GJB4)	NP_694944.1:p.Cys169Trp
XM_011540679.1:c.507C>G (GJB4)	XP_011538981.1:p.Cys169Trp
XR_947179.1:n.1002-18312G>C
XM_011540679.2:c.507C>G (GJB4)	XP_011538981.1:p.Cys169Trp
XR_001737967.1:n.1023+36610G>C
NM_153212.3:c.507C>G (GJB4) MANE Select	NP_694944.1:p.Cys169Trp