Canonical Allele Identifier: CA339323447

Gene: GJA4 SMIM12

Linked Data

• MyVariant Identifiers: chr1:g.35260113C>G (hg19) ; chr1:g.34794512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794512C>G , CM000663.2:g.34794512C>G	GRCh38
NC_000001.10:g.35260113C>G , CM000663.1:g.35260113C>G	GRCh37
NC_000001.9:g.35032700C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.299C>G (GJA4) MANE Select	ENSP00000343676.4:p.Ser100Cys
ENST00000342280.4:c.299C>G (GJA4)	ENSP00000343676.4:p.Ser100Cys
ENST00000426886.1:c.207+61259G>C (SMIM12)	ENSP00000429902.1:n.207+61259G>C
ENST00000450137.1:c.299C>G (GJA4)	ENSP00000409186.1:p.Ser100Cys
NM_002060.2:c.299C>G (GJA4)	NP_002051.2:p.Ser100Cys
XM_005270750.1:c.299C>G (GJA4)	XP_005270807.1:p.Ser100Cys
XR_947179.1:n.1001+3859G>C
XM_005270750.2:c.299C>G (GJA4)	XP_005270807.1:p.Ser100Cys
XM_017001043.2:c.299C>G (GJA4)	XP_016856532.1:p.Ser100Cys
XR_001737967.1:n.1023+3859G>C
NM_002060.3:c.299C>G (GJA4) MANE Select	NP_002051.2:p.Ser100Cys