Canonical Allele Identifier: CA3002923300

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585270dup , CM000673.2:g.2585270dup	GRCh38
NC_000011.9:g.2606500dup , CM000673.1:g.2606500dup	GRCh37
NC_000011.8:g.2563076dup	NCBI36
NG_008935.1:g.145280dup , LRG_287:g.145280dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1725dup	ENSP00000434560.2:n.771+1725dup
ENST00000646564.2:c.588+1725dup	ENSP00000495806.2:n.588+1725dup
ENST00000155840.12:c.1091dup MANE Select	ENSP00000155840.2:p.Asn365GlnfsTer?
ENST00000335475.6:c.710dup	ENSP00000334497.5:p.Asn238GlnfsTer?
ENST00000646564.1:c.234+1725dup	ENSP00000495806.1:n.234+1725dup
ENST00000155840.9:c.1091dup	ENSP00000155840.2:p.Asn365GlnfsTer?
ENST00000335475.5:c.710dup	ENSP00000334497.5:p.Asn238GlnfsTer?
NM_000218.2:c.1091dup , LRG_287t1:c.1091dup	NP_000209.2:p.Asn365GlnfsTer?
NM_181798.1:c.710dup , LRG_287t2:c.710dup	NP_861463.1:p.Asn238GlnfsTer?
NM_000218.3:c.1091dup MANE Select	NP_000209.2:p.Asn365GlnfsTer?