Canonical Allele Identifier: CA918805527
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2574107
ClinVar RCV Id: RCV003485923
dbSNP Id: rs1564821091
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572853del , CM000673.2:g.2572853del GRCh38
NC_000011.9:g.2594083del , CM000673.1:g.2594083del GRCh37
NC_000011.8:g.2550659del NCBI36
NG_008935.1:g.132863del , LRG_287:g.132863del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.527del ENSP00000434560.2:p.Ile176LysfsTer26
ENST00000646564.2:c.478-10582del ENSP00000495806.2:n.478-10582del
ENST00000155840.12:c.788del MANE Select ENSP00000155840.2:p.Ile263LysfsTer26
ENST00000335475.6:c.407del ENSP00000334497.5:p.Ile136LysfsTer26
ENST00000646564.1:c.124-10582del ENSP00000495806.1:n.124-10582del
ENST00000155840.9:c.788del ENSP00000155840.2:p.Ile263LysfsTer26
ENST00000335475.5:c.407del ENSP00000334497.5:p.Ile136LysfsTer26
ENST00000496887.6:c.527del ENSP00000434560.1:p.Ile176LysfsTer?
NM_000218.2:c.788del , LRG_287t1:c.788del NP_000209.2:p.Ile263LysfsTer26
NM_181798.1:c.407del , LRG_287t2:c.407del NP_861463.1:p.Ile136LysfsTer26
NM_000218.3:c.788del MANE Select NP_000209.2:p.Ile263LysfsTer26
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