Canonical Allele Identifier: CA1948212067

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572924G= , CM000673.2:g.2572924G=	GRCh38
NC_000011.9:g.2594154G= , CM000673.1:g.2594154G=	GRCh37
NC_000011.8:g.2550730G=	NCBI36
NG_008935.1:g.132934G= , LRG_287:g.132934G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.598G=	ENSP00000434560.2:p.Ala200=
ENST00000646564.2:c.478-10511G=	ENSP00000495806.2:n.478-10511G=
ENST00000155840.12:c.859G= MANE Select	ENSP00000155840.2:p.Ala287=
ENST00000335475.6:c.478G=	ENSP00000334497.5:p.Ala160=
ENST00000646564.1:c.124-10511G=	ENSP00000495806.1:n.124-10511G=
ENST00000155840.9:c.859G=	ENSP00000155840.2:p.Ala287=
ENST00000335475.5:c.478G=	ENSP00000334497.5:p.Ala160=
NM_000218.2:c.859G= , LRG_287t1:c.859G=	NP_000209.2:p.Ala287=
NM_181798.1:c.478G= , LRG_287t2:c.478G=	NP_861463.1:p.Ala160=
NM_000218.3:c.859G= MANE Select	NP_000209.2:p.Ala287=