Canonical Allele Identifier: CA007593
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67085
ClinVar RCV Id: RCV000057709 RCV000182300 RCV000530014 RCV001253678 RCV001841686 RCV003162438
dbSNP Id: rs199472698
gnomAD v2: 11-2591955-G-A
gnomAD v3: 11-2570725-G-A
gnomAD v4: 11-2570725-G-A
COSMIC: COSM1211624
MyVariant Identifiers: chr11:g.2591955G>A (hg19) chr11:g.2570725G>A (hg38)
PubMed: PMID:16922724 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570725G>A , CM000673.2:g.2570725G>A GRCh38
NC_000011.9:g.2591955G>A , CM000673.1:g.2591955G>A GRCh37
NC_000011.8:g.2548531G>A NCBI36
NG_008935.1:g.130735G>A , LRG_287:g.130735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.314G>A ENSP00000434560.2:p.Arg105His
ENST00000646564.2:c.478-12710G>A ENSP00000495806.2:n.478-12710G>A
ENST00000155840.12:c.575G>A MANE Select ENSP00000155840.2:p.Arg192His
ENST00000335475.6:c.194G>A ENSP00000334497.5:p.Arg65His
ENST00000646564.1:c.124-12710G>A ENSP00000495806.1:n.124-12710G>A
ENST00000155840.9:c.575G>A ENSP00000155840.2:p.Arg192His
ENST00000335475.5:c.194G>A ENSP00000334497.5:p.Arg65His
ENST00000496887.6:c.314G>A ENSP00000434560.1:p.Arg105His
NM_000218.2:c.575G>A , LRG_287t1:c.575G>A NP_000209.2:p.Arg192His
NM_181798.1:c.194G>A , LRG_287t2:c.194G>A NP_861463.1:p.Arg65His
NM_000218.3:c.575G>A MANE Select NP_000209.2:p.Arg192His
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