Canonical Allele Identifier: CA1143590202

Gene: GJB4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761453G= , CM000663.2:g.34761453G=	GRCh38
NC_000001.10:g.35227054G= , CM000663.1:g.35227054G=	GRCh37
NC_000001.9:g.34999641G=	NCBI36
NG_016243.1:g.6713G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.199G= (GJB4) MANE Select	ENSP00000345868.1:p.Glu67=
ENST00000339480.1:c.199G= (GJB4)	ENSP00000345868.1:p.Glu67=
ENST00000426886.1:c.208-43044C= (SMIM12)	ENSP00000429902.1:n.208-43044C=
NM_153212.2:c.199G= (GJB4)	NP_694944.1:p.Glu67=
XM_011540679.1:c.199G= (GJB4)	XP_011538981.1:p.Glu67=
XR_947179.1:n.1002-18004C=
XM_011540679.2:c.199G= (GJB4)	XP_011538981.1:p.Glu67=
XR_001737967.1:n.1023+36918C=
NM_153212.3:c.199G= (GJB4) MANE Select	NP_694944.1:p.Glu67=