Canonical Allele Identifier: CA1948224824

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583468G= , CM000673.2:g.2583468G=	GRCh38
NC_000011.9:g.2604698G= , CM000673.1:g.2604698G=	GRCh37
NC_000011.8:g.2561274G=	NCBI36
NG_008935.1:g.143478G= , LRG_287:g.143478G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.694G=	ENSP00000434560.2:p.Val232=
ENST00000646564.2:c.511G=	ENSP00000495806.2:p.Val171=
ENST00000155840.12:c.955G= MANE Select	ENSP00000155840.2:p.Val319=
ENST00000335475.6:c.574G=	ENSP00000334497.5:p.Val192=
ENST00000646564.1:c.157G=	ENSP00000495806.1:p.Val53=
ENST00000155840.9:c.955G=	ENSP00000155840.2:p.Val319=
ENST00000335475.5:c.574G=	ENSP00000334497.5:p.Val192=
NM_000218.2:c.955G= , LRG_287t1:c.955G=	NP_000209.2:p.Val319=
NM_181798.1:c.574G= , LRG_287t2:c.574G=	NP_861463.1:p.Val192=
NM_000218.3:c.955G= MANE Select	NP_000209.2:p.Val319=