Canonical Allele Identifier: CA1948225001

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583499C= , CM000673.2:g.2583499C=	GRCh38
NC_000011.9:g.2604729C= , CM000673.1:g.2604729C=	GRCh37
NC_000011.8:g.2561305C=	NCBI36
NG_008935.1:g.143509C= , LRG_287:g.143509C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.725C=	ENSP00000434560.2:p.Ala242=
ENST00000646564.2:c.542C=	ENSP00000495806.2:p.Ala181=
ENST00000155840.12:c.986C= MANE Select	ENSP00000155840.2:p.Ala329=
ENST00000335475.6:c.605C=	ENSP00000334497.5:p.Ala202=
ENST00000646564.1:c.188C=	ENSP00000495806.1:p.Ala63=
ENST00000155840.9:c.986C=	ENSP00000155840.2:p.Ala329=
ENST00000335475.5:c.605C=	ENSP00000334497.5:p.Ala202=
NM_000218.2:c.986C= , LRG_287t1:c.986C=	NP_000209.2:p.Ala329=
NM_181798.1:c.605C= , LRG_287t2:c.605C=	NP_861463.1:p.Ala202=
NM_000218.3:c.986C= MANE Select	NP_000209.2:p.Ala329=