Canonical Allele Identifier: CA1948236217

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588817G= , CM000673.2:g.2588817G=	GRCh38
NC_000011.9:g.2610047G= , CM000673.1:g.2610047G=	GRCh37
NC_000011.8:g.2566623G=	NCBI36
NG_008935.1:g.148827G= , LRG_287:g.148827G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.999G=	ENSP00000434560.2:p.Arg333=
ENST00000646564.2:c.816G=	ENSP00000495806.2:p.Arg272=
ENST00000155840.12:c.1356G= MANE Select	ENSP00000155840.2:p.Arg452=
ENST00000335475.6:c.975G=	ENSP00000334497.5:p.Arg325=
ENST00000646564.1:c.462G=	ENSP00000495806.1:p.Arg154=
ENST00000155840.9:c.1356G=	ENSP00000155840.2:p.Arg452=
ENST00000335475.5:c.975G=	ENSP00000334497.5:p.Arg325=
NM_000218.2:c.1356G= , LRG_287t1:c.1356G=	NP_000209.2:p.Arg452=
NM_181798.1:c.975G= , LRG_287t2:c.975G=	NP_861463.1:p.Arg325=
NM_000218.3:c.1356G= MANE Select	NP_000209.2:p.Arg452=