Canonical Allele Identifier: CA1948225014

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583505G= , CM000673.2:g.2583505G=	GRCh38
NC_000011.9:g.2604735G= , CM000673.1:g.2604735G=	GRCh37
NC_000011.8:g.2561311G=	NCBI36
NG_008935.1:g.143515G= , LRG_287:g.143515G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.731G=	ENSP00000434560.2:p.Cys244=
ENST00000646564.2:c.548G=	ENSP00000495806.2:p.Cys183=
ENST00000155840.12:c.992G= MANE Select	ENSP00000155840.2:p.Cys331=
ENST00000335475.6:c.611G=	ENSP00000334497.5:p.Cys204=
ENST00000646564.1:c.194G=	ENSP00000495806.1:p.Cys65=
ENST00000155840.9:c.992G=	ENSP00000155840.2:p.Cys331=
ENST00000335475.5:c.611G=	ENSP00000334497.5:p.Cys204=
NM_000218.2:c.992G= , LRG_287t1:c.992G=	NP_000209.2:p.Cys331=
NM_181798.1:c.611G= , LRG_287t2:c.611G=	NP_861463.1:p.Cys204=
NM_000218.3:c.992G= MANE Select	NP_000209.2:p.Cys331=