Canonical Allele Identifier: CA339321321

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs1282952834
• gnomAD v3: 1-34794365-A-G
• gnomAD v4: 1-34794365-A-G
• MyVariant Identifiers: chr1:g.35259966A>G (hg19) ; chr1:g.34794365A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794365A>G , CM000663.2:g.34794365A>G	GRCh38
NC_000001.10:g.35259966A>G , CM000663.1:g.35259966A>G	GRCh37
NC_000001.9:g.35032553A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.152A>G (GJA4) MANE Select	ENSP00000343676.4:p.Asp51Gly
ENST00000342280.4:c.152A>G (GJA4)	ENSP00000343676.4:p.Asp51Gly
ENST00000426886.1:c.207+61406T>C (SMIM12)	ENSP00000429902.1:n.207+61406T>C
ENST00000450137.1:c.152A>G (GJA4)	ENSP00000409186.1:p.Asp51Gly
NM_002060.2:c.152A>G (GJA4)	NP_002051.2:p.Asp51Gly
XM_005270750.1:c.152A>G (GJA4)	XP_005270807.1:p.Asp51Gly
XR_947179.1:n.1001+4006T>C
XM_005270750.2:c.152A>G (GJA4)	XP_005270807.1:p.Asp51Gly
XM_017001043.2:c.152A>G (GJA4)	XP_016856532.1:p.Asp51Gly
XR_001737967.1:n.1023+4006T>C
NM_002060.3:c.152A>G (GJA4) MANE Select	NP_002051.2:p.Asp51Gly