Canonical Allele Identifier: CA1948242707

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572053G= , CM000673.2:g.2572053G=	GRCh38
NC_000011.9:g.2593283G= , CM000673.1:g.2593283G=	GRCh37
NC_000011.8:g.2549859G=	NCBI36
NG_008935.1:g.132063G= , LRG_287:g.132063G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.463G=	ENSP00000434560.2:p.Asp155=
ENST00000646564.2:c.478-11382G=	ENSP00000495806.2:n.478-11382G=
ENST00000155840.12:c.724G= MANE Select	ENSP00000155840.2:p.Asp242=
ENST00000335475.6:c.343G=	ENSP00000334497.5:p.Asp115=
ENST00000646564.1:c.124-11382G=	ENSP00000495806.1:n.124-11382G=
ENST00000155840.9:c.724G=	ENSP00000155840.2:p.Asp242=
ENST00000335475.5:c.343G=	ENSP00000334497.5:p.Asp115=
ENST00000496887.6:c.463G=	ENSP00000434560.1:p.Asp155=
NM_000218.2:c.724G= , LRG_287t1:c.724G=	NP_000209.2:p.Asp242=
NM_181798.1:c.343G= , LRG_287t2:c.343G=	NP_861463.1:p.Asp115=
NM_000218.3:c.724G= MANE Select	NP_000209.2:p.Asp242=