Canonical Allele Identifier: CA472038409
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2604685C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583455C>T , CM000673.2:g.2583455C>T GRCh38
NC_000011.9:g.2604685C>T , CM000673.1:g.2604685C>T GRCh37
NC_000011.8:g.2561261C>T NCBI36
NG_008935.1:g.143465C>T , LRG_287:g.143465C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.681C>T ENSP00000434560.2:p.Gly227=
ENST00000646564.2:c.498C>T ENSP00000495806.2:p.Gly166=
ENST00000155840.12:c.942C>T MANE Select ENSP00000155840.2:p.Gly314=
ENST00000335475.6:c.561C>T ENSP00000334497.5:p.Gly187=
ENST00000646564.1:c.144C>T ENSP00000495806.1:p.Gly48=
ENST00000155840.9:c.942C>T ENSP00000155840.2:p.Gly314=
ENST00000335475.5:c.561C>T ENSP00000334497.5:p.Gly187=
NM_000218.2:c.942C>T , LRG_287t1:c.942C>T NP_000209.2:p.Gly314=
NM_181798.1:c.561C>T , LRG_287t2:c.561C>T NP_861463.1:p.Gly187=
NM_000218.3:c.942C>T MANE Select NP_000209.2:p.Gly314=