Canonical Allele Identifier: CA2685603715

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955510-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955512dup , CM000669.2:g.150955512dup	GRCh38
NC_000007.13:g.150652600dup , CM000669.1:g.150652600dup	GRCh37
NC_000007.12:g.150283533dup	NCBI36
NG_008916.1:g.27416dup , LRG_288:g.27416dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.311dup
ENST00000684241.1:n.1961+1780dup
ENST00000262186.10:c.1128+1780dup MANE Select	ENSP00000262186.5:n.1128+1780dup
ENST00000330883.9:c.-8dup	ENSP00000328531.4:n.-8dup
ENST00000262186.9:c.1128+1780dup	ENSP00000262186.5:n.1128+1780dup
ENST00000330883.8:c.-8dup	ENSP00000328531.4:n.-8dup
ENST00000430723.4:c.780+1780dup	ENSP00000387657.4:n.780+1780dup
ENST00000461280.1:n.300dup
ENST00000473610.5:n.318dup
ENST00000532957.5:n.1351+1780dup
NM_000238.3:c.1128+1780dup , LRG_288t1:c.1128+1780dup	NP_000229.1:n.1128+1780dup
NM_001204798.1:c.-8dup	NP_001191727.1:n.-8dup
NM_172056.2:c.1128+1780dup , LRG_288t2:c.1128+1780dup	NP_742053.1:n.1128+1780dup
NM_172057.2:c.-8dup , LRG_288t3:c.-8dup	NP_742054.1:n.-8dup
XM_011516185.1:c.828+1780dup	XP_011514487.1:n.828+1780dup
XM_011516186.1:c.1128+1780dup	XP_011514488.1:n.1128+1780dup
XM_011516185.2:c.828+1780dup	XP_011514487.1:n.828+1780dup
XM_011516186.3:c.1128+1780dup	XP_011514488.1:n.1128+1780dup
XM_017012195.1:c.978+1780dup	XP_016867684.1:n.978+1780dup
XM_017012196.1:c.951+1780dup	XP_016867685.1:n.951+1780dup
NM_000238.4:c.1128+1780dup MANE Select	NP_000229.1:n.1128+1780dup
NM_001204798.2:c.-8dup	NP_001191727.1:n.-8dup
NM_172057.3:c.-8dup	NP_742054.1:n.-8dup