Canonical Allele Identifier: CA369859694

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 862292
• ClinVar RCV Id: RCV001068986 ; RCV001258356 ; RCV002393332
• dbSNP Id: rs1801214475
• COSMIC: COSM3636222 ; COSM3636223 ; COSM4904199
• MyVariant Identifiers: chr7:g.150649601G>A (hg19) ; chr7:g.150952513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952513G>A , CM000669.2:g.150952513G>A	GRCh38
NC_000007.13:g.150649601G>A , CM000669.1:g.150649601G>A	GRCh37
NC_000007.12:g.150280534G>A	NCBI36
NG_008916.1:g.30414C>T , LRG_288:g.30414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.767C>T
ENST00000684116.1:n.362C>T
ENST00000684241.1:n.2302C>T
ENST00000262186.10:c.1469C>T MANE Select	ENSP00000262186.5:p.Ala490Val
ENST00000330883.9:c.449C>T	ENSP00000328531.4:p.Ala150Val
ENST00000262186.9:c.1469C>T	ENSP00000262186.5:p.Ala490Val
ENST00000330883.8:c.449C>T	ENSP00000328531.4:p.Ala150Val
ENST00000430723.4:c.1121C>T	ENSP00000387657.4:p.Ala374Val
ENST00000461280.1:n.756C>T
ENST00000473610.5:n.774C>T
ENST00000532957.5:n.1692C>T
NM_000238.3:c.1469C>T , LRG_288t1:c.1469C>T	NP_000229.1:p.Ala490Val
NM_001204798.1:c.449C>T	NP_001191727.1:p.Ala150Val
NM_172056.2:c.1469C>T , LRG_288t2:c.1469C>T	NP_742053.1:p.Ala490Val
NM_172057.2:c.449C>T , LRG_288t3:c.449C>T	NP_742054.1:p.Ala150Val
XM_011516185.1:c.1169C>T	XP_011514487.1:p.Ala390Val
XM_011516186.1:c.1469C>T	XP_011514488.1:p.Ala490Val
XM_011516185.2:c.1169C>T	XP_011514487.1:p.Ala390Val
XM_011516186.3:c.1469C>T	XP_011514488.1:p.Ala490Val
XM_017012195.1:c.1319C>T	XP_016867684.1:p.Ala440Val
XM_017012196.1:c.1292C>T	XP_016867685.1:p.Ala431Val
NM_000238.4:c.1469C>T MANE Select	NP_000229.1:p.Ala490Val
NM_001204798.2:c.449C>T	NP_001191727.1:p.Ala150Val
NM_172057.3:c.449C>T	NP_742054.1:p.Ala150Val