Canonical Allele Identifier: CA1162036845

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794122C= , CM000663.2:g.34794122C=	GRCh38
NC_000001.10:g.35259723C= , CM000663.1:g.35259723C=	GRCh37
NC_000001.9:g.35032310C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-17-75C= (GJA4) MANE Select	ENSP00000343676.4:n.-17-75C=
ENST00000342280.4:c.-17-75C= (GJA4)	ENSP00000343676.4:n.-17-75C=
ENST00000426886.1:c.207+61649G= (SMIM12)	ENSP00000429902.1:n.207+61649G=
ENST00000450137.1:c.-92C= (GJA4)	ENSP00000409186.1:n.-92C=
NM_002060.2:c.-17-75C= (GJA4)	NP_002051.2:n.-17-75C=
XM_005270750.1:c.-92C= (GJA4)	XP_005270807.1:n.-92C=
XR_947179.1:n.1001+4249G=
XM_005270750.2:c.-92C= (GJA4)	XP_005270807.1:n.-92C=
XM_017001043.2:c.-17-75C= (GJA4)	XP_016856532.1:n.-17-75C=
XR_001737967.1:n.1023+4249G=
NM_002060.3:c.-17-75C= (GJA4) MANE Select	NP_002051.2:n.-17-75C=