Canonical Allele Identifier: CA007082
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163734
ClinVar RCV Id: RCV000150863 RCV000205669 RCV000276186 RCV000244395 RCV000262280 RCV000357067 RCV000858384 RCV001093970 RCV001842460
dbSNP Id: rs1800170
ExAC: 11:2549206 C / T
gnomAD v2: 11-2549206-C-T
gnomAD v3: 11-2527976-C-T
gnomAD v4: 11-2527976-C-T
COSMIC: COSM3998377 COSM3998378
MyVariant Identifiers: chr11:g.2549206C>T (hg19) chr11:g.2527976C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527976C>T , CM000673.2:g.2527976C>T GRCh38
NC_000011.9:g.2549206C>T , CM000673.1:g.2549206C>T GRCh37
NC_000011.8:g.2505782C>T NCBI36
NG_008935.1:g.87986C>T , LRG_287:g.87986C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.174C>T ENSP00000434560.2:p.Ile58=
ENST00000646564.2:c.435C>T ENSP00000495806.2:p.Ile145=
ENST00000155840.12:c.435C>T MANE Select ENSP00000155840.2:p.Ile145=
ENST00000335475.6:c.54C>T ENSP00000334497.5:p.Ile18=
ENST00000646564.1:c.81C>T ENSP00000495806.1:p.Ile27=
ENST00000155840.9:c.435C>T ENSP00000155840.2:p.Ile145=
ENST00000335475.5:c.54C>T ENSP00000334497.5:p.Ile18=
ENST00000345015.4:n.304C>T
ENST00000496887.6:c.174C>T ENSP00000434560.1:p.Ile58=
NM_000218.2:c.435C>T , LRG_287t1:c.435C>T NP_000209.2:p.Ile145=
NM_181798.1:c.54C>T , LRG_287t2:c.54C>T NP_861463.1:p.Ile18=
NM_000218.3:c.435C>T MANE Select NP_000209.2:p.Ile145=
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