Canonical Allele Identifier: CA1948315125

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778029G= , CM000673.2:g.2778029G=	GRCh38
NC_000011.9:g.2799259G= , CM000673.1:g.2799259G=	GRCh37
NC_000011.8:g.2755835G=	NCBI36
NG_008935.1:g.338039G= , LRG_287:g.338039G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1429G=	ENSP00000434560.2:p.Glu477=
ENST00000646564.2:c.1246G=	ENSP00000495806.2:p.Glu416=
ENST00000155840.12:c.1786G= MANE Select	ENSP00000155840.2:p.Glu596=
ENST00000335475.6:c.1405G=	ENSP00000334497.5:p.Glu469=
ENST00000526095.2:c.190G=	ENSP00000494939.1:p.Glu64=
ENST00000646564.1:c.892G=	ENSP00000495806.1:p.Glu298=
ENST00000155840.9:c.1786G=	ENSP00000155840.2:p.Glu596=
ENST00000335475.5:c.1405G=	ENSP00000334497.5:p.Glu469=
ENST00000526095.1:n.293G=
NM_000218.2:c.1786G= , LRG_287t1:c.1786G=	NP_000209.2:p.Glu596=
NM_181798.1:c.1405G= , LRG_287t2:c.1405G=	NP_861463.1:p.Glu469=
NM_000218.3:c.1786G= MANE Select	NP_000209.2:p.Glu596=