Canonical Allele Identifier: CA2695213191

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585229dup , CM000673.2:g.2585229dup	GRCh38
NC_000011.9:g.2606459dup , CM000673.1:g.2606459dup	GRCh37
NC_000011.8:g.2563035dup	NCBI36
NG_008935.1:g.145239dup , LRG_287:g.145239dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1684dup	ENSP00000434560.2:n.771+1684dup
ENST00000646564.2:c.588+1684dup	ENSP00000495806.2:n.588+1684dup
ENST00000155840.12:c.1050dup MANE Select	ENSP00000155840.2:p.Phe351ValfsTer?
ENST00000335475.6:c.669dup	ENSP00000334497.5:p.Phe224ValfsTer?
ENST00000646564.1:c.234+1684dup	ENSP00000495806.1:n.234+1684dup
ENST00000155840.9:c.1050dup	ENSP00000155840.2:p.Phe351ValfsTer?
ENST00000335475.5:c.669dup	ENSP00000334497.5:p.Phe224ValfsTer?
NM_000218.2:c.1050dup , LRG_287t1:c.1050dup	NP_000209.2:p.Phe351ValfsTer?
NM_181798.1:c.669dup , LRG_287t2:c.669dup	NP_861463.1:p.Phe224ValfsTer?
NM_000218.3:c.1050dup MANE Select	NP_000209.2:p.Phe351ValfsTer?