Canonical Allele Identifier: CA1948229226

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585300T= , CM000673.2:g.2585300T=	GRCh38
NC_000011.9:g.2606530T= , CM000673.1:g.2606530T=	GRCh37
NC_000011.8:g.2563106T=	NCBI36
NG_008935.1:g.145310T= , LRG_287:g.145310T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1755T=	ENSP00000434560.2:n.771+1755T=
ENST00000646564.2:c.588+1755T=	ENSP00000495806.2:n.588+1755T=
ENST00000155840.12:c.1121T= MANE Select	ENSP00000155840.2:p.Leu374=
ENST00000335475.6:c.740T=	ENSP00000334497.5:p.Leu247=
ENST00000646564.1:c.234+1755T=	ENSP00000495806.1:n.234+1755T=
ENST00000155840.9:c.1121T=	ENSP00000155840.2:p.Leu374=
ENST00000335475.5:c.740T=	ENSP00000334497.5:p.Leu247=
NM_000218.2:c.1121T= , LRG_287t1:c.1121T=	NP_000209.2:p.Leu374=
NM_181798.1:c.740T= , LRG_287t2:c.740T=	NP_861463.1:p.Leu247=
NM_000218.3:c.1121T= MANE Select	NP_000209.2:p.Leu374=