Canonical Allele Identifier: CA472039943

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2610053C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588823C>T , CM000673.2:g.2588823C>T	GRCh38
NC_000011.9:g.2610053C>T , CM000673.1:g.2610053C>T	GRCh37
NC_000011.8:g.2566629C>T	NCBI36
NG_008935.1:g.148833C>T , LRG_287:g.148833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1005C>T	ENSP00000434560.2:p.Asp335=
ENST00000646564.2:c.822C>T	ENSP00000495806.2:p.Asp274=
ENST00000155840.12:c.1362C>T MANE Select	ENSP00000155840.2:p.Asp454=
ENST00000335475.6:c.981C>T	ENSP00000334497.5:p.Asp327=
ENST00000646564.1:c.468C>T	ENSP00000495806.1:p.Asp156=
ENST00000155840.9:c.1362C>T	ENSP00000155840.2:p.Asp454=
ENST00000335475.5:c.981C>T	ENSP00000334497.5:p.Asp327=
NM_000218.2:c.1362C>T , LRG_287t1:c.1362C>T	NP_000209.2:p.Asp454=
NM_181798.1:c.981C>T , LRG_287t2:c.981C>T	NP_861463.1:p.Asp327=
NM_000218.3:c.1362C>T MANE Select	NP_000209.2:p.Asp454=