Canonical Allele Identifier: CA369855929
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950141G>C , CM000669.2:g.150950141G>C GRCh38
NC_000007.13:g.150647229G>C , CM000669.1:g.150647229G>C GRCh37
NC_000007.12:g.150278162G>C NCBI36
NG_008916.1:g.32786C>G , LRG_288:g.32786C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1723C>G
ENST00000684241.1:n.3231+27C>G
ENST00000262186.10:c.2398+27C>G MANE Select ENSP00000262186.5:n.2398+27C>G
ENST00000330883.9:c.1378+27C>G ENSP00000328531.4:n.1378+27C>G
ENST00000262186.9:c.2398+27C>G ENSP00000262186.5:n.2398+27C>G
ENST00000330883.8:c.1378+27C>G ENSP00000328531.4:n.1378+27C>G
ENST00000430723.4:c.2077C>G ENSP00000387657.4:p.Leu693Val
ENST00000461280.1:n.1712C>G
ENST00000473610.5:n.2057C>G
ENST00000532957.5:n.2648C>G
NM_000238.3:c.2398+27C>G , LRG_288t1:c.2398+27C>G NP_000229.1:n.2398+27C>G
NM_001204798.1:c.1405C>G NP_001191727.1:p.Leu469Val
NM_172056.2:c.2425C>G , LRG_288t2:c.2425C>G NP_742053.1:p.Leu809Val
NM_172057.2:c.1378+27C>G , LRG_288t3:c.1378+27C>G NP_742054.1:n.1378+27C>G
XM_011516185.1:c.2098+27C>G XP_011514487.1:n.2098+27C>G
XM_011516186.1:c.2398+27C>G XP_011514488.1:n.2398+27C>G
XM_011516185.2:c.2098+27C>G XP_011514487.1:n.2098+27C>G
XM_011516186.3:c.2398+27C>G XP_011514488.1:n.2398+27C>G
XM_017012195.1:c.2248+27C>G XP_016867684.1:n.2248+27C>G
XM_017012196.1:c.2221+27C>G XP_016867685.1:n.2221+27C>G
NM_000238.4:c.2398+27C>G MANE Select NP_000229.1:n.2398+27C>G
NM_001204798.2:c.1405C>G NP_001191727.1:p.Leu469Val
NM_172057.3:c.1378+27C>G NP_742054.1:n.1378+27C>G