Canonical Allele Identifier: CA005788
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200747
dbSNP Id: rs199473039

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951512G>T , CM000669.2:g.150951512G>T GRCh38
NC_000007.13:g.150648600G>T , CM000669.1:g.150648600G>T GRCh37
NC_000007.12:g.150279533G>T NCBI36
NG_008916.1:g.31415C>A , LRG_288:g.31415C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1179C>A
ENST00000683359.1:n.5C>A
ENST00000684241.1:n.2714C>A
ENST00000262186.10:c.1881C>A MANE Select ENSP00000262186.5:p.Phe627Leu
ENST00000330883.9:c.861C>A ENSP00000328531.4:p.Phe287Leu
ENST00000262186.9:c.1881C>A ENSP00000262186.5:p.Phe627Leu
ENST00000330883.8:c.861C>A ENSP00000328531.4:p.Phe287Leu
ENST00000430723.4:c.1533C>A ENSP00000387657.4:p.Phe511Leu
ENST00000461280.1:n.1168C>A
ENST00000473610.5:n.1186C>A
ENST00000532957.5:n.2104C>A
NM_000238.3:c.1881C>A , LRG_288t1:c.1881C>A NP_000229.1:p.Phe627Leu
NM_001204798.1:c.861C>A NP_001191727.1:p.Phe287Leu
NM_172056.2:c.1881C>A , LRG_288t2:c.1881C>A NP_742053.1:p.Phe627Leu
NM_172057.2:c.861C>A , LRG_288t3:c.861C>A NP_742054.1:p.Phe287Leu
XM_011516185.1:c.1581C>A XP_011514487.1:p.Phe527Leu
XM_011516186.1:c.1881C>A XP_011514488.1:p.Phe627Leu
XM_011516185.2:c.1581C>A XP_011514487.1:p.Phe527Leu
XM_011516186.3:c.1881C>A XP_011514488.1:p.Phe627Leu
XM_017012195.1:c.1731C>A XP_016867684.1:p.Phe577Leu
XM_017012196.1:c.1704C>A XP_016867685.1:p.Phe568Leu
NM_000238.4:c.1881C>A MANE Select NP_000229.1:p.Phe627Leu
NM_001204798.2:c.861C>A NP_001191727.1:p.Phe287Leu
NM_172057.3:c.861C>A NP_742054.1:p.Phe287Leu