Canonical Allele Identifier: CA339320310

Gene: GJA4 SMIM12

Linked Data

• gnomAD v4: 1-34794275-T-G
• MyVariant Identifiers: chr1:g.35259876T>G (hg19) ; chr1:g.34794275T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794275T>G , CM000663.2:g.34794275T>G	GRCh38
NC_000001.10:g.35259876T>G , CM000663.1:g.35259876T>G	GRCh37
NC_000001.9:g.35032463T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.62T>G (GJA4) MANE Select	ENSP00000343676.4:p.Val21Gly
ENST00000342280.4:c.62T>G (GJA4)	ENSP00000343676.4:p.Val21Gly
ENST00000426886.1:c.207+61496A>C (SMIM12)	ENSP00000429902.1:n.207+61496A>C
ENST00000450137.1:c.62T>G (GJA4)	ENSP00000409186.1:p.Val21Gly
NM_002060.2:c.62T>G (GJA4)	NP_002051.2:p.Val21Gly
XM_005270750.1:c.62T>G (GJA4)	XP_005270807.1:p.Val21Gly
XR_947179.1:n.1001+4096A>C
XM_005270750.2:c.62T>G (GJA4)	XP_005270807.1:p.Val21Gly
XM_017001043.2:c.62T>G (GJA4)	XP_016856532.1:p.Val21Gly
XR_001737967.1:n.1023+4096A>C
NM_002060.3:c.62T>G (GJA4) MANE Select	NP_002051.2:p.Val21Gly