Canonical Allele Identifier: CA1162023569

Gene: GJB4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761469C= , CM000663.2:g.34761469C=	GRCh38
NC_000001.10:g.35227070C= , CM000663.1:g.35227070C=	GRCh37
NC_000001.9:g.34999657C=	NCBI36
NG_016243.1:g.6729C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.215C= (GJB4) MANE Select	ENSP00000345868.1:p.Ser72=
ENST00000339480.1:c.215C= (GJB4)	ENSP00000345868.1:p.Ser72=
ENST00000426886.1:c.208-43060G= (SMIM12)	ENSP00000429902.1:n.208-43060G=
NM_153212.2:c.215C= (GJB4)	NP_694944.1:p.Ser72=
XM_011540679.1:c.215C= (GJB4)	XP_011538981.1:p.Ser72=
XR_947179.1:n.1002-18020G=
XM_011540679.2:c.215C= (GJB4)	XP_011538981.1:p.Ser72=
XR_001737967.1:n.1023+36902G=
NM_153212.3:c.215C= (GJB4) MANE Select	NP_694944.1:p.Ser72=