Canonical Allele Identifier: CA1948236305

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588837A= , CM000673.2:g.2588837A=	GRCh38
NC_000011.9:g.2610067A= , CM000673.1:g.2610067A=	GRCh37
NC_000011.8:g.2566643A=	NCBI36
NG_008935.1:g.148847A= , LRG_287:g.148847A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1019A=	ENSP00000434560.2:p.Asp340=
ENST00000646564.2:c.836A=	ENSP00000495806.2:p.Asp279=
ENST00000155840.12:c.1376A= MANE Select	ENSP00000155840.2:p.Asp459=
ENST00000335475.6:c.995A=	ENSP00000334497.5:p.Asp332=
ENST00000646564.1:c.482A=	ENSP00000495806.1:p.Asp161=
ENST00000155840.9:c.1376A=	ENSP00000155840.2:p.Asp459=
ENST00000335475.5:c.995A=	ENSP00000334497.5:p.Asp332=
NM_000218.2:c.1376A= , LRG_287t1:c.1376A=	NP_000209.2:p.Asp459=
NM_181798.1:c.995A= , LRG_287t2:c.995A=	NP_861463.1:p.Asp332=
NM_000218.3:c.1376A= MANE Select	NP_000209.2:p.Asp459=