Canonical Allele Identifier: CA1162036884

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794262C= , CM000663.2:g.34794262C=	GRCh38
NC_000001.10:g.35259863C= , CM000663.1:g.35259863C=	GRCh37
NC_000001.9:g.35032450C=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000342280.5:c.49C= (GJA4) MANE Select	ENSP00000343676.4:p.His17=
ENST00000342280.4:c.49C= (GJA4)	ENSP00000343676.4:p.His17=
ENST00000426886.1:c.207+61509G= (SMIM12)	ENSP00000429902.1:n.207+61509G=
ENST00000450137.1:c.49C= (GJA4)	ENSP00000409186.1:p.His17=
NM_002060.2:c.49C= (GJA4)	NP_002051.2:p.His17=
XM_005270750.1:c.49C= (GJA4)	XP_005270807.1:p.His17=
XR_947179.1:n.1001+4109G=
XM_005270750.2:c.49C= (GJA4)	XP_005270807.1:p.His17=
XM_017001043.2:c.49C= (GJA4)	XP_016856532.1:p.His17=
XR_001737967.1:n.1023+4109G=
NM_002060.3:c.49C= (GJA4) MANE Select	NP_002051.2:p.His17=