Canonical Allele Identifier: CA1139661785

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 926196
• ClinVar RCV Id: RCV001841047
• dbSNP Id: rs1849966157

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662010_2662028dup , CM000673.2:g.2662010_2662028dup	GRCh38
NC_000011.9:g.2683240_2683258dup , CM000673.1:g.2683240_2683258dup	GRCh37
NC_000011.8:g.2639816_2639834dup	NCBI36
NG_008935.1:g.222020_222038dup , LRG_287:g.222020_222038dup
NG_016178.2:g.42974_42992dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1086_1104dup (KCNQ1)	ENSP00000434560.2:p.Asp369AsnfsTer34
ENST00000646564.2:c.903_921dup (KCNQ1)	ENSP00000495806.2:p.Asp308AsnfsTer34
ENST00000155840.12:c.1443_1461dup (KCNQ1) MANE Select	ENSP00000155840.2:p.Asp488AsnfsTer34
ENST00000335475.6:c.1062_1080dup (KCNQ1)	ENSP00000334497.5:p.Asp361AsnfsTer34
ENST00000646564.1:c.549_567dup (KCNQ1)	ENSP00000495806.1:p.Asp190AsnfsTer34
ENST00000155840.9:c.1443_1461dup (KCNQ1)	ENSP00000155840.2:p.Asp488AsnfsTer34
ENST00000335475.5:c.1062_1080dup (KCNQ1)	ENSP00000334497.5:p.Asp361AsnfsTer34
NM_000218.2:c.1443_1461dup , LRG_287t1:c.1443_1461dup (KCNQ1)	NP_000209.2:p.Asp488AsnfsTer34
NM_181798.1:c.1062_1080dup , LRG_287t2:c.1062_1080dup (KCNQ1)	NP_861463.1:p.Asp361AsnfsTer34
NR_002728.3:n.37974_37992dup (KCNQ1OT1)
NM_000218.3:c.1443_1461dup (KCNQ1) MANE Select	NP_000209.2:p.Asp488AsnfsTer34