Canonical Allele Identifier: CA1162023572

Gene: GJB4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761475T= , CM000663.2:g.34761475T=	GRCh38
NC_000001.10:g.35227076T= , CM000663.1:g.35227076T=	GRCh37
NC_000001.9:g.34999663T=	NCBI36
NG_016243.1:g.6735T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.221T= (GJB4) MANE Select	ENSP00000345868.1:p.Val74=
ENST00000339480.1:c.221T= (GJB4)	ENSP00000345868.1:p.Val74=
ENST00000426886.1:c.208-43066A= (SMIM12)	ENSP00000429902.1:n.208-43066A=
NM_153212.2:c.221T= (GJB4)	NP_694944.1:p.Val74=
XM_011540679.1:c.221T= (GJB4)	XP_011538981.1:p.Val74=
XR_947179.1:n.1002-18026A=
XM_011540679.2:c.221T= (GJB4)	XP_011538981.1:p.Val74=
XR_001737967.1:n.1023+36896A=
NM_153212.3:c.221T= (GJB4) MANE Select	NP_694944.1:p.Val74=