Canonical Allele Identifier: CA2685603420

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974619-A-AAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974619_150974620insAC , CM000669.2:g.150974619_150974620insAC	GRCh38
NC_000007.13:g.150671707_150671708insAC , CM000669.1:g.150671707_150671708insAC	GRCh37
NC_000007.12:g.150302640_150302641insAC	NCBI36
NG_008916.1:g.8307_8308insGT , LRG_288:g.8307_8308insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+91_307+92insGT MANE Select	ENSP00000262186.5:n.307+91_307+92insGT
ENST00000262186.9:c.307+91_307+92insGT	ENSP00000262186.5:n.307+91_307+92insGT
ENST00000430723.4:c.130+91_130+92insGT	ENSP00000387657.4:n.130+91_130+92insGT
ENST00000532957.5:n.530+91_530+92insGT
NM_000238.3:c.307+91_307+92insGT , LRG_288t1:c.307+91_307+92insGT	NP_000229.1:n.307+91_307+92insGT
NM_172056.2:c.307+91_307+92insGT , LRG_288t2:c.307+91_307+92insGT	NP_742053.1:n.307+91_307+92insGT
XM_011516186.1:c.307+91_307+92insGT	XP_011514488.1:n.307+91_307+92insGT
XM_011516186.3:c.307+91_307+92insGT	XP_011514488.1:n.307+91_307+92insGT
XM_017012196.1:c.130+91_130+92insGT	XP_016867685.1:n.130+91_130+92insGT
NM_000238.4:c.307+91_307+92insGT MANE Select	NP_000229.1:n.307+91_307+92insGT