Canonical Allele Identifier: CA339320115

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs1200616669
• gnomAD v2: 1-35259863-C-A
• gnomAD v4: 1-34794262-C-A
• MyVariant Identifiers: chr1:g.35259863C>A (hg19) ; chr1:g.34794262C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794262C>A , CM000663.2:g.34794262C>A	GRCh38
NC_000001.10:g.35259863C>A , CM000663.1:g.35259863C>A	GRCh37
NC_000001.9:g.35032450C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000342280.5:c.49C>A (GJA4) MANE Select	ENSP00000343676.4:p.His17Asn
ENST00000342280.4:c.49C>A (GJA4)	ENSP00000343676.4:p.His17Asn
ENST00000426886.1:c.207+61509G>T (SMIM12)	ENSP00000429902.1:n.207+61509G>T
ENST00000450137.1:c.49C>A (GJA4)	ENSP00000409186.1:p.His17Asn
NM_002060.2:c.49C>A (GJA4)	NP_002051.2:p.His17Asn
XM_005270750.1:c.49C>A (GJA4)	XP_005270807.1:p.His17Asn
XR_947179.1:n.1001+4109G>T
XM_005270750.2:c.49C>A (GJA4)	XP_005270807.1:p.His17Asn
XM_017001043.2:c.49C>A (GJA4)	XP_016856532.1:p.His17Asn
XR_001737967.1:n.1023+4109G>T
NM_002060.3:c.49C>A (GJA4) MANE Select	NP_002051.2:p.His17Asn