Canonical Allele Identifier: CA008532
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67118
ClinVar RCV Id: RCV000057786 RCV000182309 RCV001258359 RCV001841693 RCV002513751 RCV004019001
dbSNP Id: rs199473465
ExAC: 11:2594173 G / A
gnomAD v2: 11-2594173-G-A
gnomAD v4: 11-2572943-G-A
COSMIC: COSM146339
MyVariant Identifiers: chr11:g.2594173G>A (hg19) chr11:g.2572943G>A (hg38)
PubMed: PMID:19841300 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572943G>A , CM000673.2:g.2572943G>A GRCh38
NC_000011.9:g.2594173G>A , CM000673.1:g.2594173G>A GRCh37
NC_000011.8:g.2550749G>A NCBI36
NG_008935.1:g.132953G>A , LRG_287:g.132953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.617G>A ENSP00000434560.2:p.Arg206His
ENST00000646564.2:c.478-10492G>A ENSP00000495806.2:n.478-10492G>A
ENST00000155840.12:c.878G>A MANE Select ENSP00000155840.2:p.Arg293His
ENST00000335475.6:c.497G>A ENSP00000334497.5:p.Arg166His
ENST00000646564.1:c.124-10492G>A ENSP00000495806.1:n.124-10492G>A
ENST00000155840.9:c.878G>A ENSP00000155840.2:p.Arg293His
ENST00000335475.5:c.497G>A ENSP00000334497.5:p.Arg166His
NM_000218.2:c.878G>A , LRG_287t1:c.878G>A NP_000209.2:p.Arg293His
NM_181798.1:c.497G>A , LRG_287t2:c.497G>A NP_861463.1:p.Arg166His
NM_000218.3:c.878G>A MANE Select NP_000209.2:p.Arg293His
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