Canonical Allele Identifier: CA472416263
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2466676T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445446T>A , CM000673.2:g.2445446T>A GRCh38
NC_000011.9:g.2466676T>A , CM000673.1:g.2466676T>A GRCh37
NC_000011.8:g.2423252T>A NCBI36
NG_008935.1:g.5456T>A , LRG_287:g.5456T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.87T>A ENSP00000434560.2:p.Arg29=
ENST00000646564.2:c.348T>A ENSP00000495806.2:p.Arg116=
ENST00000155840.12:c.348T>A MANE Select ENSP00000155840.2:p.Arg116=
ENST00000155840.9:c.348T>A ENSP00000155840.2:p.Arg116=
ENST00000345015.4:n.125T>A
ENST00000496887.6:c.87T>A ENSP00000434560.1:p.Arg29=
NM_000218.2:c.348T>A , LRG_287t1:c.348T>A NP_000209.2:p.Arg116=
NM_000218.3:c.348T>A MANE Select NP_000209.2:p.Arg116=