Canonical Allele Identifier: CA472038406
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2604682C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583452C>A , CM000673.2:g.2583452C>A GRCh38
NC_000011.9:g.2604682C>A , CM000673.1:g.2604682C>A GRCh37
NC_000011.8:g.2561258C>A NCBI36
NG_008935.1:g.143462C>A , LRG_287:g.143462C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.678C>A ENSP00000434560.2:p.Ile226=
ENST00000646564.2:c.495C>A ENSP00000495806.2:p.Ile165=
ENST00000155840.12:c.939C>A MANE Select ENSP00000155840.2:p.Ile313=
ENST00000335475.6:c.558C>A ENSP00000334497.5:p.Ile186=
ENST00000646564.1:c.141C>A ENSP00000495806.1:p.Ile47=
ENST00000155840.9:c.939C>A ENSP00000155840.2:p.Ile313=
ENST00000335475.5:c.558C>A ENSP00000334497.5:p.Ile186=
NM_000218.2:c.939C>A , LRG_287t1:c.939C>A NP_000209.2:p.Ile313=
NM_181798.1:c.558C>A , LRG_287t2:c.558C>A NP_861463.1:p.Ile186=
NM_000218.3:c.939C>A MANE Select NP_000209.2:p.Ile313=