Canonical Allele Identifier: CA006525
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67391
dbSNP Id: rs138498207

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950195G>A , CM000669.2:g.150950195G>A GRCh38
NC_000007.13:g.150647283G>A , CM000669.1:g.150647283G>A GRCh37
NC_000007.12:g.150278216G>A NCBI36
NG_008916.1:g.32732C>T , LRG_288:g.32732C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1669C>T
ENST00000684241.1:n.3204C>T
ENST00000262186.10:c.2371C>T MANE Select ENSP00000262186.5:p.Arg791Trp
ENST00000330883.9:c.1351C>T ENSP00000328531.4:p.Arg451Trp
ENST00000262186.9:c.2371C>T ENSP00000262186.5:p.Arg791Trp
ENST00000330883.8:c.1351C>T ENSP00000328531.4:p.Arg451Trp
ENST00000430723.4:c.2023C>T ENSP00000387657.4:p.Arg675Trp
ENST00000461280.1:n.1658C>T
ENST00000473610.5:n.2003C>T
ENST00000532957.5:n.2594C>T
NM_000238.3:c.2371C>T , LRG_288t1:c.2371C>T NP_000229.1:p.Arg791Trp
NM_001204798.1:c.1351C>T NP_001191727.1:p.Arg451Trp
NM_172056.2:c.2371C>T , LRG_288t2:c.2371C>T NP_742053.1:p.Arg791Trp
NM_172057.2:c.1351C>T , LRG_288t3:c.1351C>T NP_742054.1:p.Arg451Trp
XM_011516185.1:c.2071C>T XP_011514487.1:p.Arg691Trp
XM_011516186.1:c.2371C>T XP_011514488.1:p.Arg791Trp
XM_011516185.2:c.2071C>T XP_011514487.1:p.Arg691Trp
XM_011516186.3:c.2371C>T XP_011514488.1:p.Arg791Trp
XM_017012195.1:c.2221C>T XP_016867684.1:p.Arg741Trp
XM_017012196.1:c.2194C>T XP_016867685.1:p.Arg732Trp
NM_000238.4:c.2371C>T MANE Select NP_000229.1:p.Arg791Trp
NM_001204798.2:c.1351C>T NP_001191727.1:p.Arg451Trp
NM_172057.3:c.1351C>T NP_742054.1:p.Arg451Trp