Canonical Allele Identifier: CA006181
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67357
ClinVar RCV Id: RCV000058077
dbSNP Id: rs199472982

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951007G>A , CM000669.2:g.150951007G>A GRCh38
NC_000007.13:g.150648095G>A , CM000669.1:g.150648095G>A GRCh37
NC_000007.12:g.150279028G>A NCBI36
NG_008916.1:g.31920C>T , LRG_288:g.31920C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1357C>T
ENST00000683359.1:n.183C>T
ENST00000684241.1:n.2892C>T
ENST00000262186.10:c.2059C>T MANE Select ENSP00000262186.5:p.His687Tyr
ENST00000330883.9:c.1039C>T ENSP00000328531.4:p.His347Tyr
ENST00000262186.9:c.2059C>T ENSP00000262186.5:p.His687Tyr
ENST00000330883.8:c.1039C>T ENSP00000328531.4:p.His347Tyr
ENST00000430723.4:c.1711C>T ENSP00000387657.4:p.His571Tyr
ENST00000461280.1:n.1346C>T
ENST00000473610.5:n.1691C>T
ENST00000532957.5:n.2282C>T
NM_000238.3:c.2059C>T , LRG_288t1:c.2059C>T NP_000229.1:p.His687Tyr
NM_001204798.1:c.1039C>T NP_001191727.1:p.His347Tyr
NM_172056.2:c.2059C>T , LRG_288t2:c.2059C>T NP_742053.1:p.His687Tyr
NM_172057.2:c.1039C>T , LRG_288t3:c.1039C>T NP_742054.1:p.His347Tyr
XM_011516185.1:c.1759C>T XP_011514487.1:p.His587Tyr
XM_011516186.1:c.2059C>T XP_011514488.1:p.His687Tyr
XM_011516185.2:c.1759C>T XP_011514487.1:p.His587Tyr
XM_011516186.3:c.2059C>T XP_011514488.1:p.His687Tyr
XM_017012195.1:c.1909C>T XP_016867684.1:p.His637Tyr
XM_017012196.1:c.1882C>T XP_016867685.1:p.His628Tyr
NM_000238.4:c.2059C>T MANE Select NP_000229.1:p.His687Tyr
NM_001204798.2:c.1039C>T NP_001191727.1:p.His347Tyr
NM_172057.3:c.1039C>T NP_742054.1:p.His347Tyr