Canonical Allele Identifier: CA1948236325

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588839G= , CM000673.2:g.2588839G=	GRCh38
NC_000011.9:g.2610069G= , CM000673.1:g.2610069G=	GRCh37
NC_000011.8:g.2566645G=	NCBI36
NG_008935.1:g.148849G= , LRG_287:g.148849G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1021G=	ENSP00000434560.2:p.Gly341=
ENST00000646564.2:c.838G=	ENSP00000495806.2:p.Gly280=
ENST00000155840.12:c.1378G= MANE Select	ENSP00000155840.2:p.Gly460=
ENST00000335475.6:c.997G=	ENSP00000334497.5:p.Gly333=
ENST00000646564.1:c.484G=	ENSP00000495806.1:p.Gly162=
ENST00000155840.9:c.1378G=	ENSP00000155840.2:p.Gly460=
ENST00000335475.5:c.997G=	ENSP00000334497.5:p.Gly333=
NM_000218.2:c.1378G= , LRG_287t1:c.1378G=	NP_000209.2:p.Gly460=
NM_181798.1:c.997G= , LRG_287t2:c.997G=	NP_861463.1:p.Gly333=
NM_000218.3:c.1378G= MANE Select	NP_000209.2:p.Gly460=