Canonical Allele Identifier: CA1948233241

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587616G= , CM000673.2:g.2587616G=	GRCh38
NC_000011.9:g.2608846G= , CM000673.1:g.2608846G=	GRCh37
NC_000011.8:g.2565422G=	NCBI36
NG_008935.1:g.147626G= , LRG_287:g.147626G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.818G=	ENSP00000434560.2:p.Trp273=
ENST00000646564.2:c.635G=	ENSP00000495806.2:p.Trp212=
ENST00000155840.12:c.1175G= MANE Select	ENSP00000155840.2:p.Trp392=
ENST00000335475.6:c.794G=	ENSP00000334497.5:p.Trp265=
ENST00000646564.1:c.281G=	ENSP00000495806.1:p.Trp94=
ENST00000155840.9:c.1175G=	ENSP00000155840.2:p.Trp392=
ENST00000335475.5:c.794G=	ENSP00000334497.5:p.Trp265=
NM_000218.2:c.1175G= , LRG_287t1:c.1175G=	NP_000209.2:p.Trp392=
NM_181798.1:c.794G= , LRG_287t2:c.794G=	NP_861463.1:p.Trp265=
NM_000218.3:c.1175G= MANE Select	NP_000209.2:p.Trp392=