Canonical Allele Identifier: CA369856636
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950384T>C , CM000669.2:g.150950384T>C GRCh38
NC_000007.13:g.150647472T>C , CM000669.1:g.150647472T>C GRCh37
NC_000007.12:g.150278405T>C NCBI36
NG_008916.1:g.32543A>G , LRG_288:g.32543A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1480A>G
ENST00000684241.1:n.3015A>G
ENST00000262186.10:c.2182A>G MANE Select ENSP00000262186.5:p.Ile728Val
ENST00000330883.9:c.1162A>G ENSP00000328531.4:p.Ile388Val
ENST00000262186.9:c.2182A>G ENSP00000262186.5:p.Ile728Val
ENST00000330883.8:c.1162A>G ENSP00000328531.4:p.Ile388Val
ENST00000430723.4:c.1834A>G ENSP00000387657.4:p.Ile612Val
ENST00000461280.1:n.1469A>G
ENST00000473610.5:n.1814A>G
ENST00000532957.5:n.2405A>G
NM_000238.3:c.2182A>G , LRG_288t1:c.2182A>G NP_000229.1:p.Ile728Val
NM_001204798.1:c.1162A>G NP_001191727.1:p.Ile388Val
NM_172056.2:c.2182A>G , LRG_288t2:c.2182A>G NP_742053.1:p.Ile728Val
NM_172057.2:c.1162A>G , LRG_288t3:c.1162A>G NP_742054.1:p.Ile388Val
XM_011516185.1:c.1882A>G XP_011514487.1:p.Ile628Val
XM_011516186.1:c.2182A>G XP_011514488.1:p.Ile728Val
XM_011516185.2:c.1882A>G XP_011514487.1:p.Ile628Val
XM_011516186.3:c.2182A>G XP_011514488.1:p.Ile728Val
XM_017012195.1:c.2032A>G XP_016867684.1:p.Ile678Val
XM_017012196.1:c.2005A>G XP_016867685.1:p.Ile669Val
NM_000238.4:c.2182A>G MANE Select NP_000229.1:p.Ile728Val
NM_001204798.2:c.1162A>G NP_001191727.1:p.Ile388Val
NM_172057.3:c.1162A>G NP_742054.1:p.Ile388Val