Canonical Allele Identifier: CA1948310030

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768882G= , CM000673.2:g.2768882G=	GRCh38
NC_000011.9:g.2790112G= , CM000673.1:g.2790112G=	GRCh37
NC_000011.8:g.2746688G=	NCBI36
NG_008935.1:g.328892G= , LRG_287:g.328892G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1553G= MANE Select	NP_000209.2:p.Arg518=
ENST00000155840.12:c.1553G= MANE Select	ENSP00000155840.2:p.Arg518=
NM_000218.2:c.1553G= , LRG_287t1:c.1553G=	NP_000209.2:p.Arg518=
NM_181798.1:c.1172G= , LRG_287t2:c.1172G=	NP_861463.1:p.Arg391=
ENST00000155840.9:c.1553G=	ENSP00000155840.2:p.Arg518=
ENST00000335475.5:c.1172G=	ENSP00000334497.5:p.Arg391=
ENST00000335475.6:c.1172G=	ENSP00000334497.5:p.Arg391=
ENST00000496887.7:c.1196G=	ENSP00000434560.2:p.Arg399=
ENST00000646564.1:c.659G=	ENSP00000495806.1:p.Arg220=
ENST00000646564.2:c.1013G=	ENSP00000495806.2:p.Arg338=