Canonical Allele Identifier: CA008972

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53152
• ClinVar RCV Id: RCV000046184 ; RCV000057832 ; RCV000182150 ; RCV001248782 ; RCV002371889
• dbSNP Id: rs199472756
• gnomAD v4: 11-2583486-G-A
• MyVariant Identifiers: chr11:g.2604716G>A (hg19) ; chr11:g.2583486G>A (hg38)
• PubMed: PMID:9024139 ; PMID:9386136 ; PMID:10973849 ; PMID:11668638 ; PMID:14998624 ; PMID:15234419 ; PMID:17470695 ; PMID:17905336 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583486G>A , CM000673.2:g.2583486G>A	GRCh38
NC_000011.9:g.2604716G>A , CM000673.1:g.2604716G>A	GRCh37
NC_000011.8:g.2561292G>A	NCBI36
NG_008935.1:g.143496G>A , LRG_287:g.143496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.712G>A	ENSP00000434560.2:p.Gly238Arg
ENST00000646564.2:c.529G>A	ENSP00000495806.2:p.Gly177Arg
ENST00000155840.12:c.973G>A MANE Select	ENSP00000155840.2:p.Gly325Arg
ENST00000335475.6:c.592G>A	ENSP00000334497.5:p.Gly198Arg
ENST00000646564.1:c.175G>A	ENSP00000495806.1:p.Gly59Arg
ENST00000155840.9:c.973G>A	ENSP00000155840.2:p.Gly325Arg
ENST00000335475.5:c.592G>A	ENSP00000334497.5:p.Gly198Arg
NM_000218.2:c.973G>A , LRG_287t1:c.973G>A	NP_000209.2:p.Gly325Arg
NM_181798.1:c.592G>A , LRG_287t2:c.592G>A	NP_861463.1:p.Gly198Arg
NM_000218.3:c.973G>A MANE Select	NP_000209.2:p.Gly325Arg