Canonical Allele Identifier: CA2580082632

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1769838
• ClinVar RCV Id: RCV002385621

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588780_2588798dup , CM000673.2:g.2588780_2588798dup	GRCh38
NC_000011.9:g.2610010_2610028dup , CM000673.1:g.2610010_2610028dup	GRCh37
NC_000011.8:g.2566586_2566604dup	NCBI36
NG_008935.1:g.148790_148808dup , LRG_287:g.148790_148808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.962_980dup	ENSP00000434560.2:p.Glu330TyrfsTer20
ENST00000646564.2:c.779_797dup	ENSP00000495806.2:p.Glu269TyrfsTer20
ENST00000155840.12:c.1319_1337dup MANE Select	ENSP00000155840.2:p.Glu449TyrfsTer20
ENST00000335475.6:c.938_956dup	ENSP00000334497.5:p.Glu322TyrfsTer20
ENST00000646564.1:c.425_443dup	ENSP00000495806.1:p.Glu151TyrfsTer20
ENST00000155840.9:c.1319_1337dup	ENSP00000155840.2:p.Glu449TyrfsTer20
ENST00000335475.5:c.938_956dup	ENSP00000334497.5:p.Glu322TyrfsTer20
NM_000218.2:c.1319_1337dup , LRG_287t1:c.1319_1337dup	NP_000209.2:p.Glu449TyrfsTer20
NM_181798.1:c.938_956dup , LRG_287t2:c.938_956dup	NP_861463.1:p.Glu322TyrfsTer20
NM_000218.3:c.1319_1337dup MANE Select	NP_000209.2:p.Glu449TyrfsTer20