Canonical Allele Identifier: CA041925
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 518688
ClinVar RCV Id: RCV000620557 RCV001855262
dbSNP Id: rs543428644
ExAC: 11:2604728 G / A
gnomAD v2: 11-2604728-G-A
gnomAD v4: 11-2583498-G-A
COSMIC: COSM1211626 COSM6045560
MyVariant Identifiers: chr11:g.2604728G>A (hg19) chr11:g.2583498G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583498G>A , CM000673.2:g.2583498G>A GRCh38
NC_000011.9:g.2604728G>A , CM000673.1:g.2604728G>A GRCh37
NC_000011.8:g.2561304G>A NCBI36
NG_008935.1:g.143508G>A , LRG_287:g.143508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.724G>A ENSP00000434560.2:p.Ala242Thr
ENST00000646564.2:c.541G>A ENSP00000495806.2:p.Ala181Thr
ENST00000155840.12:c.985G>A MANE Select ENSP00000155840.2:p.Ala329Thr
ENST00000335475.6:c.604G>A ENSP00000334497.5:p.Ala202Thr
ENST00000646564.1:c.187G>A ENSP00000495806.1:p.Ala63Thr
ENST00000155840.9:c.985G>A ENSP00000155840.2:p.Ala329Thr
ENST00000335475.5:c.604G>A ENSP00000334497.5:p.Ala202Thr
NM_000218.2:c.985G>A , LRG_287t1:c.985G>A NP_000209.2:p.Ala329Thr
NM_181798.1:c.604G>A , LRG_287t2:c.604G>A NP_861463.1:p.Ala202Thr
NM_000218.3:c.985G>A MANE Select NP_000209.2:p.Ala329Thr
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