Canonical Allele Identifier: CA1948314046

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776008C= , CM000673.2:g.2776008C=	GRCh38
NC_000011.9:g.2797238C= , CM000673.1:g.2797238C=	GRCh37
NC_000011.8:g.2753814C=	NCBI36
NG_008935.1:g.336018C= , LRG_287:g.336018C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1282C=	ENSP00000434560.2:p.Gln428=
ENST00000646564.2:c.1099C=	ENSP00000495806.2:p.Gln367=
ENST00000155840.12:c.1639C= MANE Select	ENSP00000155840.2:p.Gln547=
ENST00000335475.6:c.1258C=	ENSP00000334497.5:p.Gln420=
ENST00000646564.1:c.745C=	ENSP00000495806.1:p.Gln249=
ENST00000155840.9:c.1639C=	ENSP00000155840.2:p.Gln547=
ENST00000335475.5:c.1258C=	ENSP00000334497.5:p.Gln420=
NM_000218.2:c.1639C= , LRG_287t1:c.1639C=	NP_000209.2:p.Gln547=
NM_181798.1:c.1258C= , LRG_287t2:c.1258C=	NP_861463.1:p.Gln420=
NM_000218.3:c.1639C= MANE Select	NP_000209.2:p.Gln547=