Canonical Allele Identifier: CA754978

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs777347609
• ExAC: 1:35259872 G / A
• gnomAD v2: 1-35259872-G-A
• gnomAD v3: 1-34794271-G-A
• gnomAD v4: 1-34794271-G-A
• COSMIC: COSM4553422
• MyVariant Identifiers: chr1:g.35259872G>A (hg19) ; chr1:g.34794271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794271G>A , CM000663.2:g.34794271G>A	GRCh38
NC_000001.10:g.35259872G>A , CM000663.1:g.35259872G>A	GRCh37
NC_000001.9:g.35032459G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.58G>A (GJA4) MANE Select	ENSP00000343676.4:p.Val20Met
ENST00000342280.4:c.58G>A (GJA4)	ENSP00000343676.4:p.Val20Met
ENST00000426886.1:c.207+61500C>T (SMIM12)	ENSP00000429902.1:n.207+61500C>T
ENST00000450137.1:c.58G>A (GJA4)	ENSP00000409186.1:p.Val20Met
NM_002060.2:c.58G>A (GJA4)	NP_002051.2:p.Val20Met
XM_005270750.1:c.58G>A (GJA4)	XP_005270807.1:p.Val20Met
XR_947179.1:n.1001+4100C>T
XM_005270750.2:c.58G>A (GJA4)	XP_005270807.1:p.Val20Met
XM_017001043.2:c.58G>A (GJA4)	XP_016856532.1:p.Val20Met
XR_001737967.1:n.1023+4100C>T
NM_002060.3:c.58G>A (GJA4) MANE Select	NP_002051.2:p.Val20Met