Canonical Allele Identifier: CA339329974

Gene: GJA4 SMIM12

Linked Data

• dbSNP Id: rs1185869795
• gnomAD v2: 1-35260776-G-T
• gnomAD v4: 1-34795175-G-T
• MyVariant Identifiers: chr1:g.35260776G>T (hg19) ; chr1:g.34795175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34795175G>T , CM000663.2:g.34795175G>T	GRCh38
NC_000001.10:g.35260776G>T , CM000663.1:g.35260776G>T	GRCh37
NC_000001.9:g.35033363G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000342280.5:c.962G>T (GJA4) MANE Select	ENSP00000343676.4:p.Ser321Ile
ENST00000342280.4:c.962G>T (GJA4)	ENSP00000343676.4:p.Ser321Ile
ENST00000426886.1:c.207+60596C>A (SMIM12)	ENSP00000429902.1:n.207+60596C>A
NM_002060.2:c.962G>T (GJA4)	NP_002051.2:p.Ser321Ile
XM_005270750.1:c.962G>T (GJA4)	XP_005270807.1:p.Ser321Ile
XR_947179.1:n.1001+3196C>A
XM_005270750.2:c.962G>T (GJA4)	XP_005270807.1:p.Ser321Ile
XM_017001043.2:c.962G>T (GJA4)	XP_016856532.1:p.Ser321Ile
XR_001737967.1:n.1023+3196C>A
NM_002060.3:c.962G>T (GJA4) MANE Select	NP_002051.2:p.Ser321Ile