Canonical Allele Identifier: CA1162036942

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794450G= , CM000663.2:g.34794450G=	GRCh38
NC_000001.10:g.35260051G= , CM000663.1:g.35260051G=	GRCh37
NC_000001.9:g.35032638G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.237G= (GJA4) MANE Select	ENSP00000343676.4:p.Val79=
ENST00000342280.4:c.237G= (GJA4)	ENSP00000343676.4:p.Val79=
ENST00000426886.1:c.207+61321C= (SMIM12)	ENSP00000429902.1:n.207+61321C=
ENST00000450137.1:c.237G= (GJA4)	ENSP00000409186.1:p.Val79=
NM_002060.2:c.237G= (GJA4)	NP_002051.2:p.Val79=
XM_005270750.1:c.237G= (GJA4)	XP_005270807.1:p.Val79=
XR_947179.1:n.1001+3921C=
XM_005270750.2:c.237G= (GJA4)	XP_005270807.1:p.Val79=
XM_017001043.2:c.237G= (GJA4)	XP_016856532.1:p.Val79=
XR_001737967.1:n.1023+3921C=
NM_002060.3:c.237G= (GJA4) MANE Select	NP_002051.2:p.Val79=