Canonical Allele Identifier: CA472038412

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604694C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583464C>T , CM000673.2:g.2583464C>T	GRCh38
NC_000011.9:g.2604694C>T , CM000673.1:g.2604694C>T	GRCh37
NC_000011.8:g.2561270C>T	NCBI36
NG_008935.1:g.143474C>T , LRG_287:g.143474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.690C>T	ENSP00000434560.2:p.Asp230=
ENST00000646564.2:c.507C>T	ENSP00000495806.2:p.Asp169=
ENST00000155840.12:c.951C>T MANE Select	ENSP00000155840.2:p.Asp317=
ENST00000335475.6:c.570C>T	ENSP00000334497.5:p.Asp190=
ENST00000646564.1:c.153C>T	ENSP00000495806.1:p.Asp51=
ENST00000155840.9:c.951C>T	ENSP00000155840.2:p.Asp317=
ENST00000335475.5:c.570C>T	ENSP00000334497.5:p.Asp190=
NM_000218.2:c.951C>T , LRG_287t1:c.951C>T	NP_000209.2:p.Asp317=
NM_181798.1:c.570C>T , LRG_287t2:c.570C>T	NP_861463.1:p.Asp190=
NM_000218.3:c.951C>T MANE Select	NP_000209.2:p.Asp317=