Canonical Allele Identifier: CA1948243188

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572882C= , CM000673.2:g.2572882C=	GRCh38
NC_000011.9:g.2594112C= , CM000673.1:g.2594112C=	GRCh37
NC_000011.8:g.2550688C=	NCBI36
NG_008935.1:g.132892C= , LRG_287:g.132892C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.817C= MANE Select	NP_000209.2:p.Leu273=
ENST00000155840.12:c.817C= MANE Select	ENSP00000155840.2:p.Leu273=
NM_000218.2:c.817C= , LRG_287t1:c.817C=	NP_000209.2:p.Leu273=
NM_181798.1:c.436C= , LRG_287t2:c.436C=	NP_861463.1:p.Leu146=
ENST00000155840.9:c.817C=	ENSP00000155840.2:p.Leu273=
ENST00000335475.5:c.436C=	ENSP00000334497.5:p.Leu146=
ENST00000335475.6:c.436C=	ENSP00000334497.5:p.Leu146=
ENST00000496887.6:c.556C=	ENSP00000434560.1:p.Leu186=
ENST00000496887.7:c.556C=	ENSP00000434560.2:p.Leu186=
ENST00000646564.1:c.124-10553C=	ENSP00000495806.1:n.124-10553C=
ENST00000646564.2:c.478-10553C=	ENSP00000495806.2:n.478-10553C=