Canonical Allele Identifier: CA472038504

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585275C>A , CM000673.2:g.2585275C>A	GRCh38
NC_000011.9:g.2606505C>A , CM000673.1:g.2606505C>A	GRCh37
NC_000011.8:g.2563081C>A	NCBI36
NG_008935.1:g.145285C>A , LRG_287:g.145285C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1096C>A MANE Select	NP_000209.2:p.Arg366=
ENST00000155840.12:c.1096C>A MANE Select	ENSP00000155840.2:p.Arg366=
NM_000218.2:c.1096C>A , LRG_287t1:c.1096C>A	NP_000209.2:p.Arg366=
NM_181798.1:c.715C>A , LRG_287t2:c.715C>A	NP_861463.1:p.Arg239=
ENST00000155840.9:c.1096C>A	ENSP00000155840.2:p.Arg366=
ENST00000335475.5:c.715C>A	ENSP00000334497.5:p.Arg239=
ENST00000335475.6:c.715C>A	ENSP00000334497.5:p.Arg239=
ENST00000496887.7:c.771+1730C>A	ENSP00000434560.2:n.771+1730C>A
ENST00000646564.1:c.234+1730C>A	ENSP00000495806.1:n.234+1730C>A
ENST00000646564.2:c.588+1730C>A	ENSP00000495806.2:n.588+1730C>A