Canonical Allele Identifier: CA005431
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52966
ClinVar RCV Id: RCV000057566 RCV001753462
dbSNP Id: rs199472773
MyVariant Identifiers: chr11:g.2608837C>A (hg19) chr11:g.2587607C>A (hg38)
PubMed: PMID:15840476 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587607C>A , CM000673.2:g.2587607C>A GRCh38
NC_000011.9:g.2608837C>A , CM000673.1:g.2608837C>A GRCh37
NC_000011.8:g.2565413C>A NCBI36
NG_008935.1:g.147617C>A , LRG_287:g.147617C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.809C>A ENSP00000434560.2:p.Ser270Tyr
ENST00000646564.2:c.626C>A ENSP00000495806.2:p.Ser209Tyr
ENST00000155840.12:c.1166C>A MANE Select ENSP00000155840.2:p.Ser389Tyr
ENST00000335475.6:c.785C>A ENSP00000334497.5:p.Ser262Tyr
ENST00000646564.1:c.272C>A ENSP00000495806.1:p.Ser91Tyr
ENST00000155840.9:c.1166C>A ENSP00000155840.2:p.Ser389Tyr
ENST00000335475.5:c.785C>A ENSP00000334497.5:p.Ser262Tyr
NM_000218.2:c.1166C>A , LRG_287t1:c.1166C>A NP_000209.2:p.Ser389Tyr
NM_181798.1:c.785C>A , LRG_287t2:c.785C>A NP_861463.1:p.Ser262Tyr
NM_000218.3:c.1166C>A MANE Select NP_000209.2:p.Ser389Tyr
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