Canonical Allele Identifier: CA005808
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52987
ClinVar RCV Id: RCV000577438
dbSNP Id: rs397508094
MyVariant Identifiers: chr11:g.2466479dupT (hg19) chr11:g.2445249dupT (hg38)
PubMed: PMID:16414944
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445249dup , CM000673.2:g.2445249dup GRCh38
NC_000011.9:g.2466479dup , CM000673.1:g.2466479dup GRCh37
NC_000011.8:g.2423055dup NCBI36
NG_008935.1:g.5259dup , LRG_287:g.5259dup

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-134dup ENSP00000434560.2:n.24-134dup
ENST00000646564.2:c.151dup ENSP00000495806.2:p.Tyr51LeufsTer?
ENST00000155840.12:c.151dup MANE Select ENSP00000155840.2:p.Tyr51LeufsTer?
ENST00000155840.9:c.151dup ENSP00000155840.2:p.Tyr51LeufsTer?
ENST00000496887.6:c.24-134dup ENSP00000434560.1:n.24-134dup
NM_000218.2:c.151dup , LRG_287t1:c.151dup NP_000209.2:p.Tyr51LeufsTer?
NM_000218.3:c.151dup MANE Select NP_000209.2:p.Tyr51LeufsTer?
Search 100 bp 5'
Search 100 bp 3'