Canonical Allele Identifier: CA031439
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527080
dbSNP Id: rs765110115

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950328G>C , CM000669.2:g.150950328G>C GRCh38
NC_000007.13:g.150647416G>C , CM000669.1:g.150647416G>C GRCh37
NC_000007.12:g.150278349G>C NCBI36
NG_008916.1:g.32599C>G , LRG_288:g.32599C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1536C>G
ENST00000684241.1:n.3071C>G
ENST00000262186.10:c.2238C>G MANE Select ENSP00000262186.5:p.Ala746=
ENST00000330883.9:c.1218C>G ENSP00000328531.4:p.Ala406=
ENST00000262186.9:c.2238C>G ENSP00000262186.5:p.Ala746=
ENST00000330883.8:c.1218C>G ENSP00000328531.4:p.Ala406=
ENST00000430723.4:c.1890C>G ENSP00000387657.4:p.Ala630=
ENST00000461280.1:n.1525C>G
ENST00000473610.5:n.1870C>G
ENST00000532957.5:n.2461C>G
NM_000238.3:c.2238C>G , LRG_288t1:c.2238C>G NP_000229.1:p.Ala746=
NM_001204798.1:c.1218C>G NP_001191727.1:p.Ala406=
NM_172056.2:c.2238C>G , LRG_288t2:c.2238C>G NP_742053.1:p.Ala746=
NM_172057.2:c.1218C>G , LRG_288t3:c.1218C>G NP_742054.1:p.Ala406=
XM_011516185.1:c.1938C>G XP_011514487.1:p.Ala646=
XM_011516186.1:c.2238C>G XP_011514488.1:p.Ala746=
XM_011516185.2:c.1938C>G XP_011514487.1:p.Ala646=
XM_011516186.3:c.2238C>G XP_011514488.1:p.Ala746=
XM_017012195.1:c.2088C>G XP_016867684.1:p.Ala696=
XM_017012196.1:c.2061C>G XP_016867685.1:p.Ala687=
NM_000238.4:c.2238C>G MANE Select NP_000229.1:p.Ala746=
NM_001204798.2:c.1218C>G NP_001191727.1:p.Ala406=
NM_172057.3:c.1218C>G NP_742054.1:p.Ala406=