Canonical Allele Identifier: CA1143086247

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794460C= , CM000663.2:g.34794460C=	GRCh38
NC_000001.10:g.35260061C= , CM000663.1:g.35260061C=	GRCh37
NC_000001.9:g.35032648C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.247C= (GJA4) MANE Select	ENSP00000343676.4:p.Leu83=
ENST00000342280.4:c.247C= (GJA4)	ENSP00000343676.4:p.Leu83=
ENST00000426886.1:c.207+61311G= (SMIM12)	ENSP00000429902.1:n.207+61311G=
ENST00000450137.1:c.247C= (GJA4)	ENSP00000409186.1:p.Leu83=
NM_002060.2:c.247C= (GJA4)	NP_002051.2:p.Leu83=
XM_005270750.1:c.247C= (GJA4)	XP_005270807.1:p.Leu83=
XR_947179.1:n.1001+3911G=
XM_005270750.2:c.247C= (GJA4)	XP_005270807.1:p.Leu83=
XM_017001043.2:c.247C= (GJA4)	XP_016856532.1:p.Leu83=
XR_001737967.1:n.1023+3911G=
NM_002060.3:c.247C= (GJA4) MANE Select	NP_002051.2:p.Leu83=