LDH info

Canonical Allele Identifier: CA458871222
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 456905
ClinVar RCV Id: RCV000559564

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950223G>A , CM000669.2:g.150950223G>A GRCh38
NC_000007.13:g.150647311G>A , CM000669.1:g.150647311G>A GRCh37
NC_000007.12:g.150278244G>A NCBI36
NG_008916.1:g.32704C>T , LRG_288:g.32704C>T

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2343C>T , LRG_288t1:c.2343C>T NP_000229.1:p.Phe781=
NM_001204798.1:c.1323C>T VV NP_001191727.1:p.Phe441=
NM_172056.2:c.2343C>T , LRG_288t2:c.2343C>T NP_742053.1:p.Phe781=
NM_172057.2:c.1323C>T , LRG_288t3:c.1323C>T NP_742054.1:p.Phe441=
XM_011516185.1:c.2043C>T XP_011514487.1:p.Phe681=
XM_011516186.1:c.2343C>T XP_011514488.1:p.Phe781=
XM_011516185.2:c.2043C>T XP_011514487.1:p.Phe681=
XM_011516186.3:c.2343C>T XP_011514488.1:p.Phe781=
XM_017012195.1:c.2193C>T XP_016867684.1:p.Phe731=
XM_017012196.1:c.2166C>T XP_016867685.1:p.Phe722=
NM_000238.4:c.2343C>T VV MANE Preferred NP_000229.1:p.Phe781=
NM_001204798.2:c.1323C>T VV NP_001191727.1:p.Phe441=
ENST00000262186.9:c.2343C>T ENSP00000262186.5:p.Phe781=
ENST00000330883.8:c.1323C>T ENSP00000328531.4:p.Phe441=
ENST00000430723.4:c.1995C>T ENSP00000387657.4:p.Phe665=
ENST00000461280.1:n.1630C>T
ENST00000473610.5:n.1975C>T
ENST00000532957.5:n.2566C>T