Canonical Allele Identifier: CA1948239329

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570629A= , CM000673.2:g.2570629A=	GRCh38
NC_000011.9:g.2591859A= , CM000673.1:g.2591859A=	GRCh37
NC_000011.8:g.2548435A=	NCBI36
NG_008935.1:g.130639A= , LRG_287:g.130639A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.479A= MANE Select	NP_000209.2:p.Glu160=
ENST00000155840.12:c.479A= MANE Select	ENSP00000155840.2:p.Glu160=
NM_000218.2:c.479A= , LRG_287t1:c.479A=	NP_000209.2:p.Glu160=
NM_181798.1:c.98A= , LRG_287t2:c.98A=	NP_861463.1:p.Glu33=
ENST00000155840.9:c.479A=	ENSP00000155840.2:p.Glu160=
ENST00000335475.5:c.98A=	ENSP00000334497.5:p.Glu33=
ENST00000335475.6:c.98A=	ENSP00000334497.5:p.Glu33=
ENST00000496887.6:c.218A=	ENSP00000434560.1:p.Glu73=
ENST00000496887.7:c.218A=	ENSP00000434560.2:p.Glu73=
ENST00000646564.1:c.124-12806A=	ENSP00000495806.1:n.124-12806A=
ENST00000646564.2:c.478-12806A=	ENSP00000495806.2:n.478-12806A=