Canonical Allele Identifier: CA20545774

Gene: GJB4 SMIM12

Linked Data

• dbSNP Id: rs750558924
• gnomAD v4: 1-34761493-A-T
• MyVariant Identifiers: chr1:g.35227094A>T (hg19) ; chr1:g.34761493A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761493A>T , CM000663.2:g.34761493A>T	GRCh38
NC_000001.10:g.35227094A>T , CM000663.1:g.35227094A>T	GRCh37
NC_000001.9:g.34999681A>T	NCBI36
NG_016243.1:g.6753A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.239A>T (GJB4) MANE Select	ENSP00000345868.1:p.Gln80Leu
ENST00000339480.1:c.239A>T (GJB4)	ENSP00000345868.1:p.Gln80Leu
ENST00000426886.1:c.208-43084T>A (SMIM12)	ENSP00000429902.1:n.208-43084T>A
NM_153212.2:c.239A>T (GJB4)	NP_694944.1:p.Gln80Leu
XM_011540679.1:c.239A>T (GJB4)	XP_011538981.1:p.Gln80Leu
XR_947179.1:n.1002-18044T>A
XM_011540679.2:c.239A>T (GJB4)	XP_011538981.1:p.Gln80Leu
XR_001737967.1:n.1023+36878T>A
NM_153212.3:c.239A>T (GJB4) MANE Select	NP_694944.1:p.Gln80Leu