Canonical Allele Identifier: CA1948239659

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570678G= , CM000673.2:g.2570678G=	GRCh38
NC_000011.9:g.2591908G= , CM000673.1:g.2591908G=	GRCh37
NC_000011.8:g.2548484G=	NCBI36
NG_008935.1:g.130688G= , LRG_287:g.130688G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.267G=	ENSP00000434560.2:p.Trp89=
ENST00000646564.2:c.478-12757G=	ENSP00000495806.2:n.478-12757G=
ENST00000155840.12:c.528G= MANE Select	ENSP00000155840.2:p.Trp176=
ENST00000335475.6:c.147G=	ENSP00000334497.5:p.Trp49=
ENST00000646564.1:c.124-12757G=	ENSP00000495806.1:n.124-12757G=
ENST00000155840.9:c.528G=	ENSP00000155840.2:p.Trp176=
ENST00000335475.5:c.147G=	ENSP00000334497.5:p.Trp49=
ENST00000496887.6:c.267G=	ENSP00000434560.1:p.Trp89=
NM_000218.2:c.528G= , LRG_287t1:c.528G=	NP_000209.2:p.Trp176=
NM_181798.1:c.147G= , LRG_287t2:c.147G=	NP_861463.1:p.Trp49=
NM_000218.3:c.528G= MANE Select	NP_000209.2:p.Trp176=