Canonical Allele Identifier: CA005886
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67035
ClinVar RCV Id: RCV000057591
dbSNP Id: rs199473478
MyVariant Identifiers: chr11:g.2790109T>C (hg19) chr11:g.2768879T>C (hg38)
PubMed: PMID:15028050 PMID:15234419 PMID:17470695 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768879T>C , CM000673.2:g.2768879T>C GRCh38
NC_000011.9:g.2790109T>C , CM000673.1:g.2790109T>C GRCh37
NC_000011.8:g.2746685T>C NCBI36
NG_008935.1:g.328889T>C , LRG_287:g.328889T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1193T>C ENSP00000434560.2:p.Ile398Thr
ENST00000646564.2:c.1010T>C ENSP00000495806.2:p.Ile337Thr
ENST00000155840.12:c.1550T>C MANE Select ENSP00000155840.2:p.Ile517Thr
ENST00000335475.6:c.1169T>C ENSP00000334497.5:p.Ile390Thr
ENST00000646564.1:c.656T>C ENSP00000495806.1:p.Ile219Thr
ENST00000155840.9:c.1550T>C ENSP00000155840.2:p.Ile517Thr
ENST00000335475.5:c.1169T>C ENSP00000334497.5:p.Ile390Thr
NM_000218.2:c.1550T>C , LRG_287t1:c.1550T>C NP_000209.2:p.Ile517Thr
NM_181798.1:c.1169T>C , LRG_287t2:c.1169T>C NP_861463.1:p.Ile390Thr
NM_000218.3:c.1550T>C MANE Select NP_000209.2:p.Ile517Thr
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