Canonical Allele Identifier: CA472040001
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2610083T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588853T>A , CM000673.2:g.2588853T>A GRCh38
NC_000011.9:g.2610083T>A , CM000673.1:g.2610083T>A GRCh37
NC_000011.8:g.2566659T>A NCBI36
NG_008935.1:g.148863T>A , LRG_287:g.148863T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1035T>A ENSP00000434560.2:p.Ser345=
ENST00000646564.2:c.852T>A ENSP00000495806.2:p.Ser284=
ENST00000155840.12:c.1392T>A MANE Select ENSP00000155840.2:p.Ser464=
ENST00000335475.6:c.1011T>A ENSP00000334497.5:p.Ser337=
ENST00000646564.1:c.498T>A ENSP00000495806.1:p.Ser166=
ENST00000155840.9:c.1392T>A ENSP00000155840.2:p.Ser464=
ENST00000335475.5:c.1011T>A ENSP00000334497.5:p.Ser337=
NM_000218.2:c.1392T>A , LRG_287t1:c.1392T>A NP_000209.2:p.Ser464=
NM_181798.1:c.1011T>A , LRG_287t2:c.1011T>A NP_861463.1:p.Ser337=
NM_000218.3:c.1392T>A MANE Select NP_000209.2:p.Ser464=