Canonical Allele Identifier: CA915945557

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 641517
• ClinVar RCV Id: RCV000794775
• dbSNP Id: rs1584883087

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974773_150974789dup , CM000669.2:g.150974773_150974789dup	GRCh38
NC_000007.13:g.150671861_150671877dup , CM000669.1:g.150671861_150671877dup	GRCh37
NC_000007.12:g.150302794_150302810dup	NCBI36
NG_008916.1:g.8143_8159dup , LRG_288:g.8143_8159dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.234_250dup MANE Select	ENSP00000262186.5:p.Gln84LeufsTer?
ENST00000262186.9:c.234_250dup	ENSP00000262186.5:p.Gln84LeufsTer?
ENST00000430723.4:c.57_73dup	ENSP00000387657.4:p.Gln25LeufsTer?
ENST00000532957.5:n.457_473dup
NM_000238.3:c.234_250dup , LRG_288t1:c.234_250dup	NP_000229.1:p.Gln84LeufsTer?
NM_172056.2:c.234_250dup , LRG_288t2:c.234_250dup	NP_742053.1:p.Gln84LeufsTer?
XM_011516186.1:c.234_250dup	XP_011514488.1:p.Gln84LeufsTer?
XM_011516186.3:c.234_250dup	XP_011514488.1:p.Gln84LeufsTer?
XM_017012196.1:c.57_73dup	XP_016867685.1:p.Gln25LeufsTer?
NM_000238.4:c.234_250dup MANE Select	NP_000229.1:p.Gln84LeufsTer?