Canonical Allele Identifier: CA379117098
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1707106
ClinVar RCV Id: RCV002286022 RCV003647867
dbSNP Id: rs1440163024
gnomAD v2: 11-2466596-C-T
gnomAD v3: 11-2445366-C-T
gnomAD v4: 11-2445366-C-T
MyVariant Identifiers: chr11:g.2466596C>T (hg19) chr11:g.2445366C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445366C>T , CM000673.2:g.2445366C>T GRCh38
NC_000011.9:g.2466596C>T , CM000673.1:g.2466596C>T GRCh37
NC_000011.8:g.2423172C>T NCBI36
NG_008935.1:g.5376C>T , LRG_287:g.5376C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-17C>T ENSP00000434560.2:n.24-17C>T
ENST00000646564.2:c.268C>T ENSP00000495806.2:p.Arg90Cys
ENST00000155840.12:c.268C>T MANE Select ENSP00000155840.2:p.Arg90Cys
ENST00000155840.9:c.268C>T ENSP00000155840.2:p.Arg90Cys
ENST00000345015.4:n.45C>T
ENST00000496887.6:c.24-17C>T ENSP00000434560.1:n.24-17C>T
NM_000218.2:c.268C>T , LRG_287t1:c.268C>T NP_000209.2:p.Arg90Cys
NM_000218.3:c.268C>T MANE Select NP_000209.2:p.Arg90Cys
Search 100 bp 5'
Search 100 bp 3'