Canonical Allele Identifier: CA008360
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53112
ClinVar RCV Id: RCV000239632 RCV001346356 RCV001588868
dbSNP Id: rs397508126
MyVariant Identifiers: chr11:g.2594119_2594121del (hg19) chr11:g.2572889_2572891del (hg38)
PubMed: PMID:27485560
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572889_2572891del , CM000673.2:g.2572889_2572891del GRCh38
NC_000011.9:g.2594119_2594121del , CM000673.1:g.2594119_2594121del GRCh37
NC_000011.8:g.2550695_2550697del NCBI36
NG_008935.1:g.132899_132901del , LRG_287:g.132899_132901del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.563_565del ENSP00000434560.2:p.Phe188del
ENST00000646564.2:c.478-10546_478-10544del ENSP00000495806.2:n.478-10546_478-10544de...
ENST00000155840.12:c.824_826del MANE Select ENSP00000155840.2:p.Phe275del
ENST00000335475.6:c.443_445del ENSP00000334497.5:p.Phe148del
ENST00000646564.1:c.124-10546_124-10544del ENSP00000495806.1:n.124-10546_124-10544de...
ENST00000155840.9:c.824_826del ENSP00000155840.2:p.Phe275del
ENST00000335475.5:c.443_445del ENSP00000334497.5:p.Phe148del
ENST00000496887.6:c.563_565del ENSP00000434560.1:p.Phe188del
NM_000218.2:c.824_826del , LRG_287t1:c.824_826del NP_000209.2:p.Phe275del
NM_181798.1:c.443_445del , LRG_287t2:c.443_445del NP_861463.1:p.Phe148del
NM_000218.3:c.824_826del MANE Select NP_000209.2:p.Phe275del
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