Canonical Allele Identifier: CA1948229047

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585266C= , CM000673.2:g.2585266C=	GRCh38
NC_000011.9:g.2606496C= , CM000673.1:g.2606496C=	GRCh37
NC_000011.8:g.2563072C=	NCBI36
NG_008935.1:g.145276C= , LRG_287:g.145276C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1721C=	ENSP00000434560.2:n.771+1721C=
ENST00000646564.2:c.588+1721C=	ENSP00000495806.2:n.588+1721C=
ENST00000155840.12:c.1087C= MANE Select	ENSP00000155840.2:p.His363=
ENST00000335475.6:c.706C=	ENSP00000334497.5:p.His236=
ENST00000646564.1:c.234+1721C=	ENSP00000495806.1:n.234+1721C=
ENST00000155840.9:c.1087C=	ENSP00000155840.2:p.His363=
ENST00000335475.5:c.706C=	ENSP00000334497.5:p.His236=
NM_000218.2:c.1087C= , LRG_287t1:c.1087C=	NP_000209.2:p.His363=
NM_181798.1:c.706C= , LRG_287t2:c.706C=	NP_861463.1:p.His236=
NM_000218.3:c.1087C= MANE Select	NP_000209.2:p.His363=