Canonical Allele Identifier: CA004923
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52933
ClinVar RCV Id: RCV003362679
dbSNP Id: rs199472762
COSMIC: COSM4032157 COSM4032158
MyVariant Identifiers: chr11:g.2604770C>T (hg19) chr11:g.2583540C>T (hg38)
PubMed: PMID:15466642 PMID:15511625 PMID:15840476 PMID:17470695 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583540C>T , CM000673.2:g.2583540C>T GRCh38
NC_000011.9:g.2604770C>T , CM000673.1:g.2604770C>T GRCh37
NC_000011.8:g.2561346C>T NCBI36
NG_008935.1:g.143550C>T , LRG_287:g.143550C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.766C>T ENSP00000434560.2:p.Pro256Ser
ENST00000646564.2:c.583C>T ENSP00000495806.2:p.Pro195Ser
ENST00000155840.12:c.1027C>T MANE Select ENSP00000155840.2:p.Pro343Ser
ENST00000335475.6:c.646C>T ENSP00000334497.5:p.Pro216Ser
ENST00000646564.1:c.229C>T ENSP00000495806.1:p.Pro77Ser
ENST00000155840.9:c.1027C>T ENSP00000155840.2:p.Pro343Ser
ENST00000335475.5:c.646C>T ENSP00000334497.5:p.Pro216Ser
NM_000218.2:c.1027C>T , LRG_287t1:c.1027C>T NP_000209.2:p.Pro343Ser
NM_181798.1:c.646C>T , LRG_287t2:c.646C>T NP_861463.1:p.Pro216Ser
NM_000218.3:c.1027C>T MANE Select NP_000209.2:p.Pro343Ser
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