Canonical Allele Identifier: CA004365
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67175
ClinVar RCV Id: RCV000057882
dbSNP Id: rs199472896

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952705G>T , CM000669.2:g.150952705G>T GRCh38
NC_000007.13:g.150649793G>T , CM000669.1:g.150649793G>T GRCh37
NC_000007.12:g.150280726G>T NCBI36
NG_008916.1:g.30222C>A , LRG_288:g.30222C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.575C>A
ENST00000684116.1:n.170C>A
ENST00000684241.1:n.2110C>A
ENST00000262186.10:c.1277C>A MANE Select ENSP00000262186.5:p.Pro426His
ENST00000330883.9:c.257C>A ENSP00000328531.4:p.Pro86His
ENST00000262186.9:c.1277C>A ENSP00000262186.5:p.Pro426His
ENST00000330883.8:c.257C>A ENSP00000328531.4:p.Pro86His
ENST00000430723.4:c.929C>A ENSP00000387657.4:p.Pro310His
ENST00000461280.1:n.564C>A
ENST00000473610.5:n.582C>A
ENST00000532957.5:n.1500C>A
NM_000238.3:c.1277C>A , LRG_288t1:c.1277C>A NP_000229.1:p.Pro426His
NM_001204798.1:c.257C>A NP_001191727.1:p.Pro86His
NM_172056.2:c.1277C>A , LRG_288t2:c.1277C>A NP_742053.1:p.Pro426His
NM_172057.2:c.257C>A , LRG_288t3:c.257C>A NP_742054.1:p.Pro86His
XM_011516185.1:c.977C>A XP_011514487.1:p.Pro326His
XM_011516186.1:c.1277C>A XP_011514488.1:p.Pro426His
XM_011516185.2:c.977C>A XP_011514487.1:p.Pro326His
XM_011516186.3:c.1277C>A XP_011514488.1:p.Pro426His
XM_017012195.1:c.1127C>A XP_016867684.1:p.Pro376His
XM_017012196.1:c.1100C>A XP_016867685.1:p.Pro367His
NM_000238.4:c.1277C>A MANE Select NP_000229.1:p.Pro426His
NM_001204798.2:c.257C>A NP_001191727.1:p.Pro86His
NM_172057.3:c.257C>A NP_742054.1:p.Pro86His