Canonical Allele Identifier: CA472039140

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608860C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587630C>A , CM000673.2:g.2587630C>A	GRCh38
NC_000011.9:g.2608860C>A , CM000673.1:g.2608860C>A	GRCh37
NC_000011.8:g.2565436C>A	NCBI36
NG_008935.1:g.147640C>A , LRG_287:g.147640C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.832C>A	ENSP00000434560.2:p.Arg278=
ENST00000646564.2:c.649C>A	ENSP00000495806.2:p.Arg217=
ENST00000155840.12:c.1189C>A MANE Select	ENSP00000155840.2:p.Arg397=
ENST00000335475.6:c.808C>A	ENSP00000334497.5:p.Arg270=
ENST00000646564.1:c.295C>A	ENSP00000495806.1:p.Arg99=
ENST00000155840.9:c.1189C>A	ENSP00000155840.2:p.Arg397=
ENST00000335475.5:c.808C>A	ENSP00000334497.5:p.Arg270=
NM_000218.2:c.1189C>A , LRG_287t1:c.1189C>A	NP_000209.2:p.Arg397=
NM_181798.1:c.808C>A , LRG_287t2:c.808C>A	NP_861463.1:p.Arg270=
NM_000218.3:c.1189C>A MANE Select	NP_000209.2:p.Arg397=