Canonical Allele Identifier: CA1948233331

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587631G= , CM000673.2:g.2587631G=	GRCh38
NC_000011.9:g.2608861G= , CM000673.1:g.2608861G=	GRCh37
NC_000011.8:g.2565437G=	NCBI36
NG_008935.1:g.147641G= , LRG_287:g.147641G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.833G=	ENSP00000434560.2:p.Arg278=
ENST00000646564.2:c.650G=	ENSP00000495806.2:p.Arg217=
ENST00000155840.12:c.1190G= MANE Select	ENSP00000155840.2:p.Arg397=
ENST00000335475.6:c.809G=	ENSP00000334497.5:p.Arg270=
ENST00000646564.1:c.296G=	ENSP00000495806.1:p.Arg99=
ENST00000155840.9:c.1190G=	ENSP00000155840.2:p.Arg397=
ENST00000335475.5:c.809G=	ENSP00000334497.5:p.Arg270=
NM_000218.2:c.1190G= , LRG_287t1:c.1190G=	NP_000209.2:p.Arg397=
NM_181798.1:c.809G= , LRG_287t2:c.809G=	NP_861463.1:p.Arg270=
NM_000218.3:c.1190G= MANE Select	NP_000209.2:p.Arg397=