Canonical Allele Identifier: CA006126
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67350
ClinVar RCV Id: RCV000058070
dbSNP Id: rs199472978

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951097C>A , CM000669.2:g.150951097C>A GRCh38
NC_000007.13:g.150648185C>A , CM000669.1:g.150648185C>A GRCh37
NC_000007.12:g.150279118C>A NCBI36
NG_008916.1:g.31830G>T , LRG_288:g.31830G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1267G>T
ENST00000683359.1:n.93G>T
ENST00000684241.1:n.2802G>T
ENST00000262186.10:c.1969G>T MANE Select ENSP00000262186.5:p.Gly657Cys
ENST00000330883.9:c.949G>T ENSP00000328531.4:p.Gly317Cys
ENST00000262186.9:c.1969G>T ENSP00000262186.5:p.Gly657Cys
ENST00000330883.8:c.949G>T ENSP00000328531.4:p.Gly317Cys
ENST00000430723.4:c.1621G>T ENSP00000387657.4:p.Gly541Cys
ENST00000461280.1:n.1256G>T
ENST00000473610.5:n.1601G>T
ENST00000532957.5:n.2192G>T
NM_000238.3:c.1969G>T , LRG_288t1:c.1969G>T NP_000229.1:p.Gly657Cys
NM_001204798.1:c.949G>T NP_001191727.1:p.Gly317Cys
NM_172056.2:c.1969G>T , LRG_288t2:c.1969G>T NP_742053.1:p.Gly657Cys
NM_172057.2:c.949G>T , LRG_288t3:c.949G>T NP_742054.1:p.Gly317Cys
XM_011516185.1:c.1669G>T XP_011514487.1:p.Gly557Cys
XM_011516186.1:c.1969G>T XP_011514488.1:p.Gly657Cys
XM_011516185.2:c.1669G>T XP_011514487.1:p.Gly557Cys
XM_011516186.3:c.1969G>T XP_011514488.1:p.Gly657Cys
XM_017012195.1:c.1819G>T XP_016867684.1:p.Gly607Cys
XM_017012196.1:c.1792G>T XP_016867685.1:p.Gly598Cys
NM_000238.4:c.1969G>T MANE Select NP_000229.1:p.Gly657Cys
NM_001204798.2:c.949G>T NP_001191727.1:p.Gly317Cys
NM_172057.3:c.949G>T NP_742054.1:p.Gly317Cys