Canonical Allele Identifier: CA006668
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs756311706
ExAC: 11:2466524 TCCCCGGCCGCGCCCGCCGCGC / T
gnomAD v2: 11-2466524-TCCCCGGCCGCGCCCGCCGCGC-T
gnomAD v3: 11-2445294-TCCCCGGCCGCGCCCGCCGCGC-T
gnomAD v4: 11-2445294-TCCCCGGCCGCGCCCGCCGCGC-T
MyVariant Identifiers: chr11:g.2466525_2466545del (hg19) chr11:g.2445295_2445315del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445299_2445319del , CM000673.2:g.2445299_2445319del GRCh38
NC_000011.9:g.2466529_2466549del , CM000673.1:g.2466529_2466549del GRCh37
NC_000011.8:g.2423105_2423125del NCBI36
NG_008935.1:g.5309_5329del , LRG_287:g.5309_5329del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-84_24-64del ENSP00000434560.2:n.24-84_24-64del
ENST00000646564.2:c.201_221del ENSP00000495806.2:p.Ala68_Pro74del
ENST00000155840.12:c.201_221del MANE Select ENSP00000155840.2:p.Ala68_Pro74del
ENST00000155840.9:c.201_221del ENSP00000155840.2:p.Ala68_Pro74del
ENST00000496887.6:c.24-84_24-64del ENSP00000434560.1:n.24-84_24-64del
NM_000218.2:c.201_221del , LRG_287t1:c.201_221del NP_000209.2:p.Ala68_Pro74del
NM_000218.3:c.201_221del MANE Select NP_000209.2:p.Ala68_Pro74del
Search 100 bp 5'
Search 100 bp 3'