Canonical Allele Identifier: CA006389
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14435
dbSNP Id: rs121912512

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950311C>T , CM000669.2:g.150950311C>T GRCh38
NC_000007.13:g.150647399C>T , CM000669.1:g.150647399C>T GRCh37
NC_000007.12:g.150278332C>T NCBI36
NG_008916.1:g.32616G>A , LRG_288:g.32616G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.9:c.2255G>A ENSP00000262186.5:p.Arg752Gln
ENST00000330883.8:c.1235G>A ENSP00000328531.4:p.Arg412Gln
ENST00000430723.4:c.1907G>A ENSP00000387657.4:p.Arg636Gln
NM_000238.3:c.2255G>A , LRG_288t1:c.2255G>A NP_000229.1:p.Arg752Gln
NM_001204798.1:c.1235G>A NP_001191727.1:p.Arg412Gln
NM_172056.2:c.2255G>A , LRG_288t2:c.2255G>A NP_742053.1:p.Arg752Gln
NM_172057.2:c.1235G>A , LRG_288t3:c.1235G>A NP_742054.1:p.Arg412Gln
XM_011516185.1:c.1955G>A XP_011514487.1:p.Arg652Gln
XM_011516186.1:c.2255G>A XP_011514488.1:p.Arg752Gln
XM_011516185.2:c.1955G>A XP_011514487.1:p.Arg652Gln
XM_011516186.3:c.2255G>A XP_011514488.1:p.Arg752Gln
XM_017012195.1:c.2105G>A XP_016867684.1:p.Arg702Gln
XM_017012196.1:c.2078G>A XP_016867685.1:p.Arg693Gln
NM_000238.4:c.2255G>A MANE Select NP_000229.1:p.Arg752Gln
NM_001204798.2:c.1235G>A NP_001191727.1:p.Arg412Gln
NM_172057.3:c.1235G>A NP_742054.1:p.Arg412Gln