Canonical Allele Identifier: CA1948243173

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572861C= , CM000673.2:g.2572861C=	GRCh38
NC_000011.9:g.2594091C= , CM000673.1:g.2594091C=	GRCh37
NC_000011.8:g.2550667C=	NCBI36
NG_008935.1:g.132871C= , LRG_287:g.132871C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.535C=	ENSP00000434560.2:p.Leu179=
ENST00000646564.2:c.478-10574C=	ENSP00000495806.2:n.478-10574C=
ENST00000155840.12:c.796C= MANE Select	ENSP00000155840.2:p.Leu266=
ENST00000335475.6:c.415C=	ENSP00000334497.5:p.Leu139=
ENST00000646564.1:c.124-10574C=	ENSP00000495806.1:n.124-10574C=
ENST00000155840.9:c.796C=	ENSP00000155840.2:p.Leu266=
ENST00000335475.5:c.415C=	ENSP00000334497.5:p.Leu139=
ENST00000496887.6:c.535C=	ENSP00000434560.1:p.Leu179=
NM_000218.2:c.796C= , LRG_287t1:c.796C=	NP_000209.2:p.Leu266=
NM_181798.1:c.415C= , LRG_287t2:c.415C=	NP_861463.1:p.Leu139=
NM_000218.3:c.796C= MANE Select	NP_000209.2:p.Leu266=