Canonical Allele Identifier: CA754976

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs143380983
• ExAC: 1:35259868 G / A
• gnomAD v2: 1-35259868-G-A
• gnomAD v3: 1-34794267-G-A
• gnomAD v4: 1-34794267-G-A
• COSMIC: COSM3488830
• MyVariant Identifiers: chr1:g.35259868G>A (hg19) ; chr1:g.34794267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794267G>A , CM000663.2:g.34794267G>A	GRCh38
NC_000001.10:g.35259868G>A , CM000663.1:g.35259868G>A	GRCh37
NC_000001.9:g.35032455G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.54G>A (GJA4) MANE Select	ENSP00000343676.4:p.Ser18=
ENST00000342280.4:c.54G>A (GJA4)	ENSP00000343676.4:p.Ser18=
ENST00000426886.1:c.207+61504C>T (SMIM12)	ENSP00000429902.1:n.207+61504C>T
ENST00000450137.1:c.54G>A (GJA4)	ENSP00000409186.1:p.Ser18=
NM_002060.2:c.54G>A (GJA4)	NP_002051.2:p.Ser18=
XM_005270750.1:c.54G>A (GJA4)	XP_005270807.1:p.Ser18=
XR_947179.1:n.1001+4104C>T
XM_005270750.2:c.54G>A (GJA4)	XP_005270807.1:p.Ser18=
XM_017001043.2:c.54G>A (GJA4)	XP_016856532.1:p.Ser18=
XR_001737967.1:n.1023+4104C>T
NM_002060.3:c.54G>A (GJA4) MANE Select	NP_002051.2:p.Ser18=