Canonical Allele Identifier: CA007745
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67093
ClinVar RCV Id: RCV000057720 RCV000623026
dbSNP Id: rs199472823
MyVariant Identifiers: chr11:g.2592558T>C (hg19) chr11:g.2571328T>C (hg38)
PubMed: PMID:21459285 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2571328T>C , CM000673.2:g.2571328T>C GRCh38
NC_000011.9:g.2592558T>C , CM000673.1:g.2592558T>C GRCh37
NC_000011.8:g.2549134T>C NCBI36
NG_008935.1:g.131338T>C , LRG_287:g.131338T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.347T>C ENSP00000434560.2:p.Leu116Pro
ENST00000646564.2:c.478-12107T>C ENSP00000495806.2:n.478-12107T>C
ENST00000155840.12:c.608T>C MANE Select ENSP00000155840.2:p.Leu203Pro
ENST00000335475.6:c.227T>C ENSP00000334497.5:p.Leu76Pro
ENST00000646564.1:c.124-12107T>C ENSP00000495806.1:n.124-12107T>C
ENST00000155840.9:c.608T>C ENSP00000155840.2:p.Leu203Pro
ENST00000335475.5:c.227T>C ENSP00000334497.5:p.Leu76Pro
ENST00000496887.6:c.347T>C ENSP00000434560.1:p.Leu116Pro
NM_000218.2:c.608T>C , LRG_287t1:c.608T>C NP_000209.2:p.Leu203Pro
NM_181798.1:c.227T>C , LRG_287t2:c.227T>C NP_861463.1:p.Leu76Pro
NM_000218.3:c.608T>C MANE Select NP_000209.2:p.Leu203Pro
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