Canonical Allele Identifier: CA007329

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53059
• ClinVar RCV Id: RCV000057690 ; RCV000223741 ; RCV000984322 ; RCV001386000 ; RCV002496703 ; RCV002336182
• dbSNP Id: rs199472697
• ExAC: 11:2591901 G / A
• gnomAD v2: 11-2591901-G-A
• gnomAD v3: 11-2570671-G-A
• gnomAD v4: 11-2570671-G-A
• MyVariant Identifiers: chr11:g.2591901G>A (hg19) ; chr11:g.2570671G>A (hg38)
• PubMed: PMID:10367071 ; PMID:10973849 ; PMID:14998624 ; PMID:15234419 ; PMID:17470695 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570671G>A , CM000673.2:g.2570671G>A	GRCh38
NC_000011.9:g.2591901G>A , CM000673.1:g.2591901G>A	GRCh37
NC_000011.8:g.2548477G>A	NCBI36
NG_008935.1:g.130681G>A , LRG_287:g.130681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.260G>A	ENSP00000434560.2:p.Arg87His
ENST00000646564.2:c.478-12764G>A	ENSP00000495806.2:n.478-12764G>A
ENST00000155840.12:c.521G>A MANE Select	ENSP00000155840.2:p.Arg174His
ENST00000335475.6:c.140G>A	ENSP00000334497.5:p.Arg47His
ENST00000646564.1:c.124-12764G>A	ENSP00000495806.1:n.124-12764G>A
ENST00000155840.9:c.521G>A	ENSP00000155840.2:p.Arg174His
ENST00000335475.5:c.140G>A	ENSP00000334497.5:p.Arg47His
ENST00000496887.6:c.260G>A	ENSP00000434560.1:p.Arg87His
NM_000218.2:c.521G>A , LRG_287t1:c.521G>A	NP_000209.2:p.Arg174His
NM_181798.1:c.140G>A , LRG_287t2:c.140G>A	NP_861463.1:p.Arg47His
NM_000218.3:c.521G>A MANE Select	NP_000209.2:p.Arg174His