LDH info

Canonical Allele Identifier: CA10587643
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 264633
ClinVar RCV Id: RCV000250675
dbSNP Id: rs886039215

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2343C>G , LRG_288t1:c.2343C>G NP_000229.1:p.Phe781Leu
NM_001204798.1:c.1323C>G VV NP_001191727.1:p.Phe441Leu
NM_172056.2:c.2343C>G , LRG_288t2:c.2343C>G NP_742053.1:p.Phe781Leu
NM_172057.2:c.1323C>G , LRG_288t3:c.1323C>G NP_742054.1:p.Phe441Leu
XM_011516185.1:c.2043C>G XP_011514487.1:p.Phe681Leu
XM_011516186.1:c.2343C>G XP_011514488.1:p.Phe781Leu
XM_011516185.2:c.2043C>G XP_011514487.1:p.Phe681Leu
XM_011516186.3:c.2343C>G XP_011514488.1:p.Phe781Leu
XM_017012195.1:c.2193C>G XP_016867684.1:p.Phe731Leu
XM_017012196.1:c.2166C>G XP_016867685.1:p.Phe722Leu
NM_000238.4:c.2343C>G VV MANE Preferred NP_000229.1:p.Phe781Leu
NM_001204798.2:c.1323C>G VV NP_001191727.1:p.Phe441Leu
ENST00000262186.9:c.2343C>G ENSP00000262186.5:p.Phe781Leu
ENST00000330883.8:c.1323C>G ENSP00000328531.4:p.Phe441Leu
ENST00000430723.4:c.1995C>G ENSP00000387657.4:p.Phe665Leu
ENST00000461280.1:n.1630C>G
ENST00000473610.5:n.1975C>G
ENST00000532957.5:n.2566C>G