Canonical Allele Identifier: CA1948242724

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572073G= , CM000673.2:g.2572073G=	GRCh38
NC_000011.9:g.2593303G= , CM000673.1:g.2593303G=	GRCh37
NC_000011.8:g.2549879G=	NCBI36
NG_008935.1:g.132083G= , LRG_287:g.132083G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.483G=	ENSP00000434560.2:p.Trp161=
ENST00000646564.2:c.478-11362G=	ENSP00000495806.2:n.478-11362G=
ENST00000155840.12:c.744G= MANE Select	ENSP00000155840.2:p.Trp248=
ENST00000335475.6:c.363G=	ENSP00000334497.5:p.Trp121=
ENST00000646564.1:c.124-11362G=	ENSP00000495806.1:n.124-11362G=
ENST00000155840.9:c.744G=	ENSP00000155840.2:p.Trp248=
ENST00000335475.5:c.363G=	ENSP00000334497.5:p.Trp121=
ENST00000496887.6:c.483G=	ENSP00000434560.1:p.Trp161=
NM_000218.2:c.744G= , LRG_287t1:c.744G=	NP_000209.2:p.Trp248=
NM_181798.1:c.363G= , LRG_287t2:c.363G=	NP_861463.1:p.Trp121=
NM_000218.3:c.744G= MANE Select	NP_000209.2:p.Trp248=