Canonical Allele Identifier: CA007803
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53080
ClinVar RCV Id: RCV000057726
dbSNP Id: rs199472704
MyVariant Identifiers: chr11:g.2592576C>T (hg19) chr11:g.2571346C>T (hg38)
PubMed: PMID:16414944 PMID:20421371 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2571346C>T , CM000673.2:g.2571346C>T GRCh38
NC_000011.9:g.2592576C>T , CM000673.1:g.2592576C>T GRCh37
NC_000011.8:g.2549152C>T NCBI36
NG_008935.1:g.131356C>T , LRG_287:g.131356C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.365C>T ENSP00000434560.2:p.Ser122Phe
ENST00000646564.2:c.478-12089C>T ENSP00000495806.2:n.478-12089C>T
ENST00000155840.12:c.626C>T MANE Select ENSP00000155840.2:p.Ser209Phe
ENST00000335475.6:c.245C>T ENSP00000334497.5:p.Ser82Phe
ENST00000646564.1:c.124-12089C>T ENSP00000495806.1:n.124-12089C>T
ENST00000155840.9:c.626C>T ENSP00000155840.2:p.Ser209Phe
ENST00000335475.5:c.245C>T ENSP00000334497.5:p.Ser82Phe
ENST00000496887.6:c.365C>T ENSP00000434560.1:p.Ser122Phe
NM_000218.2:c.626C>T , LRG_287t1:c.626C>T NP_000209.2:p.Ser209Phe
NM_181798.1:c.245C>T , LRG_287t2:c.245C>T NP_861463.1:p.Ser82Phe
NM_000218.3:c.626C>T MANE Select NP_000209.2:p.Ser209Phe
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