Canonical Allele Identifier: CA369861038

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955500-C-T
• COSMIC: COSM5710455
• MyVariant Identifiers: chr7:g.150652588C>T (hg19) ; chr7:g.150955500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955500C>T , CM000669.2:g.150955500C>T	GRCh38
NC_000007.13:g.150652588C>T , CM000669.1:g.150652588C>T	GRCh37
NC_000007.12:g.150283521C>T	NCBI36
NG_008916.1:g.27427G>A , LRG_288:g.27427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.322G>A
ENST00000684241.1:n.1961+1791G>A
ENST00000262186.10:c.1128+1791G>A MANE Select	ENSP00000262186.5:n.1128+1791G>A
ENST00000330883.9:c.4G>A	ENSP00000328531.4:p.Ala2Thr
ENST00000262186.9:c.1128+1791G>A	ENSP00000262186.5:n.1128+1791G>A
ENST00000330883.8:c.4G>A	ENSP00000328531.4:p.Ala2Thr
ENST00000430723.4:c.780+1791G>A	ENSP00000387657.4:n.780+1791G>A
ENST00000461280.1:n.311G>A
ENST00000473610.5:n.329G>A
ENST00000532957.5:n.1351+1791G>A
NM_000238.3:c.1128+1791G>A , LRG_288t1:c.1128+1791G>A	NP_000229.1:n.1128+1791G>A
NM_001204798.1:c.4G>A	NP_001191727.1:p.Ala2Thr
NM_172056.2:c.1128+1791G>A , LRG_288t2:c.1128+1791G>A	NP_742053.1:n.1128+1791G>A
NM_172057.2:c.4G>A , LRG_288t3:c.4G>A	NP_742054.1:p.Ala2Thr
XM_011516185.1:c.828+1791G>A	XP_011514487.1:n.828+1791G>A
XM_011516186.1:c.1128+1791G>A	XP_011514488.1:n.1128+1791G>A
XM_011516185.2:c.828+1791G>A	XP_011514487.1:n.828+1791G>A
XM_011516186.3:c.1128+1791G>A	XP_011514488.1:n.1128+1791G>A
XM_017012195.1:c.978+1791G>A	XP_016867684.1:n.978+1791G>A
XM_017012196.1:c.951+1791G>A	XP_016867685.1:n.951+1791G>A
NM_000238.4:c.1128+1791G>A MANE Select	NP_000229.1:n.1128+1791G>A
NM_001204798.2:c.4G>A	NP_001191727.1:p.Ala2Thr
NM_172057.3:c.4G>A	NP_742054.1:p.Ala2Thr