Canonical Allele Identifier: CA117206

Gene: GJB4 SMIM12

Linked Data

• ClinVar Variation Id: 5008
• ClinVar RCV Id: RCV000005311 ; RCV001836700
• dbSNP Id: rs80358212
• ExAC: 1:35226920 G / A
• gnomAD v2: 1-35226920-G-A
• gnomAD v3: 1-34761319-G-A
• gnomAD v4: 1-34761319-G-A
• MyVariant Identifiers: chr1:g.35226920G>A (hg19) ; chr1:g.34761319G>A (hg38)
• PubMed: PMID:12648223

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761319G>A , CM000663.2:g.34761319G>A	GRCh38
NC_000001.10:g.35226920G>A , CM000663.1:g.35226920G>A	GRCh37
NC_000001.9:g.34999507G>A	NCBI36
NG_016243.1:g.6579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.65G>A (GJB4) MANE Select	ENSP00000345868.1:p.Arg22His
ENST00000339480.1:c.65G>A (GJB4)	ENSP00000345868.1:p.Arg22His
ENST00000426886.1:c.208-42910C>T (SMIM12)	ENSP00000429902.1:n.208-42910C>T
NM_153212.2:c.65G>A (GJB4)	NP_694944.1:p.Arg22His
XM_011540679.1:c.65G>A (GJB4)	XP_011538981.1:p.Arg22His
XR_947179.1:n.1002-17870C>T
XM_011540679.2:c.65G>A (GJB4)	XP_011538981.1:p.Arg22His
XR_001737967.1:n.1023+37052C>T
NM_153212.3:c.65G>A (GJB4) MANE Select	NP_694944.1:p.Arg22His