Canonical Allele Identifier: CA027326
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 851410
dbSNP Id: rs368817970

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952792C>T , CM000669.2:g.150952792C>T GRCh38
NC_000007.13:g.150649880C>T , CM000669.1:g.150649880C>T GRCh37
NC_000007.12:g.150280813C>T NCBI36
NG_008916.1:g.30135G>A , LRG_288:g.30135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.488G>A
ENST00000684116.1:n.83G>A
ENST00000684241.1:n.2023G>A
ENST00000262186.10:c.1190G>A MANE Select ENSP00000262186.5:p.Arg397His
ENST00000330883.9:c.170G>A ENSP00000328531.4:p.Arg57His
ENST00000262186.9:c.1190G>A ENSP00000262186.5:p.Arg397His
ENST00000330883.8:c.170G>A ENSP00000328531.4:p.Arg57His
ENST00000430723.4:c.842G>A ENSP00000387657.4:p.Arg281His
ENST00000461280.1:n.477G>A
ENST00000473610.5:n.495G>A
ENST00000532957.5:n.1413G>A
NM_000238.3:c.1190G>A , LRG_288t1:c.1190G>A NP_000229.1:p.Arg397His
NM_001204798.1:c.170G>A NP_001191727.1:p.Arg57His
NM_172056.2:c.1190G>A , LRG_288t2:c.1190G>A NP_742053.1:p.Arg397His
NM_172057.2:c.170G>A , LRG_288t3:c.170G>A NP_742054.1:p.Arg57His
XM_011516185.1:c.890G>A XP_011514487.1:p.Arg297His
XM_011516186.1:c.1190G>A XP_011514488.1:p.Arg397His
XM_011516185.2:c.890G>A XP_011514487.1:p.Arg297His
XM_011516186.3:c.1190G>A XP_011514488.1:p.Arg397His
XM_017012195.1:c.1040G>A XP_016867684.1:p.Arg347His
XM_017012196.1:c.1013G>A XP_016867685.1:p.Arg338His
NM_000238.4:c.1190G>A MANE Select NP_000229.1:p.Arg397His
NM_001204798.2:c.170G>A NP_001191727.1:p.Arg57His
NM_172057.3:c.170G>A NP_742054.1:p.Arg57His