Canonical Allele Identifier: CA369860235

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952786-G-A
• MyVariant Identifiers: chr7:g.150649874G>A (hg19) ; chr7:g.150952786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952786G>A , CM000669.2:g.150952786G>A	GRCh38
NC_000007.13:g.150649874G>A , CM000669.1:g.150649874G>A	GRCh37
NC_000007.12:g.150280807G>A	NCBI36
NG_008916.1:g.30141C>T , LRG_288:g.30141C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.494C>T
ENST00000684116.1:n.89C>T
ENST00000684241.1:n.2029C>T
ENST00000262186.10:c.1196C>T MANE Select	ENSP00000262186.5:p.Thr399Ile
ENST00000330883.9:c.176C>T	ENSP00000328531.4:p.Thr59Ile
ENST00000262186.9:c.1196C>T	ENSP00000262186.5:p.Thr399Ile
ENST00000330883.8:c.176C>T	ENSP00000328531.4:p.Thr59Ile
ENST00000430723.4:c.848C>T	ENSP00000387657.4:p.Thr283Ile
ENST00000461280.1:n.483C>T
ENST00000473610.5:n.501C>T
ENST00000532957.5:n.1419C>T
NM_000238.3:c.1196C>T , LRG_288t1:c.1196C>T	NP_000229.1:p.Thr399Ile
NM_001204798.1:c.176C>T	NP_001191727.1:p.Thr59Ile
NM_172056.2:c.1196C>T , LRG_288t2:c.1196C>T	NP_742053.1:p.Thr399Ile
NM_172057.2:c.176C>T , LRG_288t3:c.176C>T	NP_742054.1:p.Thr59Ile
XM_011516185.1:c.896C>T	XP_011514487.1:p.Thr299Ile
XM_011516186.1:c.1196C>T	XP_011514488.1:p.Thr399Ile
XM_011516185.2:c.896C>T	XP_011514487.1:p.Thr299Ile
XM_011516186.3:c.1196C>T	XP_011514488.1:p.Thr399Ile
XM_017012195.1:c.1046C>T	XP_016867684.1:p.Thr349Ile
XM_017012196.1:c.1019C>T	XP_016867685.1:p.Thr340Ile
NM_000238.4:c.1196C>T MANE Select	NP_000229.1:p.Thr399Ile
NM_001204798.2:c.176C>T	NP_001191727.1:p.Thr59Ile
NM_172057.3:c.176C>T	NP_742054.1:p.Thr59Ile