Canonical Allele Identifier: CA339300390

Gene: GJB4 SMIM12

Linked Data

• dbSNP Id: rs200060483
• gnomAD v2: 1-35227053-C-A
• gnomAD v3: 1-34761452-C-A
• gnomAD v4: 1-34761452-C-A
• MyVariant Identifiers: chr1:g.35227053C>A (hg19) ; chr1:g.34761452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761452C>A , CM000663.2:g.34761452C>A	GRCh38
NC_000001.10:g.35227053C>A , CM000663.1:g.35227053C>A	GRCh37
NC_000001.9:g.34999640C>A	NCBI36
NG_016243.1:g.6712C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.198C>A (GJB4) MANE Select	ENSP00000345868.1:p.Asp66Glu
ENST00000339480.1:c.198C>A (GJB4)	ENSP00000345868.1:p.Asp66Glu
ENST00000426886.1:c.208-43043G>T (SMIM12)	ENSP00000429902.1:n.208-43043G>T
NM_153212.2:c.198C>A (GJB4)	NP_694944.1:p.Asp66Glu
XM_011540679.1:c.198C>A (GJB4)	XP_011538981.1:p.Asp66Glu
XR_947179.1:n.1002-18003G>T
XM_011540679.2:c.198C>A (GJB4)	XP_011538981.1:p.Asp66Glu
XR_001737967.1:n.1023+36919G>T
NM_153212.3:c.198C>A (GJB4) MANE Select	NP_694944.1:p.Asp66Glu