Canonical Allele Identifier: CA006200
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67049
ClinVar RCV Id: RCV000057617
dbSNP Id: rs199472803
MyVariant Identifiers: chr11:g.2798226T>C (hg19) chr11:g.2776996T>C (hg38)
PubMed: PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2776996T>C , CM000673.2:g.2776996T>C GRCh38
NC_000011.9:g.2798226T>C , CM000673.1:g.2798226T>C GRCh37
NC_000011.8:g.2754802T>C NCBI36
NG_008935.1:g.337006T>C , LRG_287:g.337006T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1339T>C ENSP00000434560.2:p.Ser447Pro
ENST00000646564.2:c.1156T>C ENSP00000495806.2:p.Ser386Pro
ENST00000155840.12:c.1696T>C MANE Select ENSP00000155840.2:p.Ser566Pro
ENST00000335475.6:c.1315T>C ENSP00000334497.5:p.Ser439Pro
ENST00000646564.1:c.802T>C ENSP00000495806.1:p.Ser268Pro
ENST00000155840.9:c.1696T>C ENSP00000155840.2:p.Ser566Pro
ENST00000335475.5:c.1315T>C ENSP00000334497.5:p.Ser439Pro
NM_000218.2:c.1696T>C , LRG_287t1:c.1696T>C NP_000209.2:p.Ser566Pro
NM_181798.1:c.1315T>C , LRG_287t2:c.1315T>C NP_861463.1:p.Ser439Pro
NM_000218.3:c.1696T>C MANE Select NP_000209.2:p.Ser566Pro
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