Canonical Allele Identifier: CA1948310076

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768903C= , CM000673.2:g.2768903C=	GRCh38
NC_000011.9:g.2790133C= , CM000673.1:g.2790133C=	GRCh37
NC_000011.8:g.2746709C=	NCBI36
NG_008935.1:g.328913C= , LRG_287:g.328913C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1217C=	ENSP00000434560.2:p.Ala406=
ENST00000646564.2:c.1034C=	ENSP00000495806.2:p.Ala345=
ENST00000155840.12:c.1574C= MANE Select	ENSP00000155840.2:p.Ala525=
ENST00000335475.6:c.1193C=	ENSP00000334497.5:p.Ala398=
ENST00000646564.1:c.680C=	ENSP00000495806.1:p.Ala227=
ENST00000155840.9:c.1574C=	ENSP00000155840.2:p.Ala525=
ENST00000335475.5:c.1193C=	ENSP00000334497.5:p.Ala398=
NM_000218.2:c.1574C= , LRG_287t1:c.1574C=	NP_000209.2:p.Ala525=
NM_181798.1:c.1193C= , LRG_287t2:c.1193C=	NP_861463.1:p.Ala398=
NM_000218.3:c.1574C= MANE Select	NP_000209.2:p.Ala525=