Canonical Allele Identifier: CA2573146074

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1452627
• ClinVar RCV Id: RCV002037701 ; RCV003458177
• dbSNP Id: rs2133730742

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572100_2572104dup , CM000673.2:g.2572100_2572104dup	GRCh38
NC_000011.9:g.2593330_2593334dup , CM000673.1:g.2593330_2593334dup	GRCh37
NC_000011.8:g.2549906_2549910dup	NCBI36
NG_008935.1:g.132110_132114dup , LRG_287:g.132110_132114dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.510_514dup	ENSP00000434560.2:p.Arg172ProfsTer6
ENST00000646564.2:c.478-11335_478-11331dup	ENSP00000495806.2:n.478-11335_478-11331du...
ENST00000155840.12:c.771_775dup MANE Select	ENSP00000155840.2:p.Arg259ProfsTer6
ENST00000335475.6:c.390_394dup	ENSP00000334497.5:p.Arg132ProfsTer6
ENST00000646564.1:c.124-11335_124-11331dup	ENSP00000495806.1:n.124-11335_124-11331du...
ENST00000155840.9:c.771_775dup	ENSP00000155840.2:p.Arg259ProfsTer6
ENST00000335475.5:c.390_394dup	ENSP00000334497.5:p.Arg132ProfsTer6
ENST00000496887.6:c.510_514dup	ENSP00000434560.1:p.Arg172ProfsTer6
NM_000218.2:c.771_775dup , LRG_287t1:c.771_775dup	NP_000209.2:p.Arg259ProfsTer6
NM_181798.1:c.390_394dup , LRG_287t2:c.390_394dup	NP_861463.1:p.Arg132ProfsTer6
NM_000218.3:c.771_775dup MANE Select	NP_000209.2:p.Arg259ProfsTer6