LDH info

Canonical Allele Identifier: CA458871236
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

MyVariant Identifiers: chr7:g.150647317C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950229C>G , CM000669.2:g.150950229C>G GRCh38
NC_000007.13:g.150647317C>G , CM000669.1:g.150647317C>G GRCh37
NC_000007.12:g.150278250C>G NCBI36
NG_008916.1:g.32698G>C , LRG_288:g.32698G>C

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2337G>C , LRG_288t1:c.2337G>C NP_000229.1:p.Leu779=
NM_001204798.1:c.1317G>C VV NP_001191727.1:p.Leu439=
NM_172056.2:c.2337G>C , LRG_288t2:c.2337G>C NP_742053.1:p.Leu779=
NM_172057.2:c.1317G>C , LRG_288t3:c.1317G>C NP_742054.1:p.Leu439=
XM_011516185.1:c.2037G>C XP_011514487.1:p.Leu679=
XM_011516186.1:c.2337G>C XP_011514488.1:p.Leu779=
XM_011516185.2:c.2037G>C XP_011514487.1:p.Leu679=
XM_011516186.3:c.2337G>C XP_011514488.1:p.Leu779=
XM_017012195.1:c.2187G>C XP_016867684.1:p.Leu729=
XM_017012196.1:c.2160G>C XP_016867685.1:p.Leu720=
NM_000238.4:c.2337G>C VV MANE Preferred NP_000229.1:p.Leu779=
NM_001204798.2:c.1317G>C VV NP_001191727.1:p.Leu439=
ENST00000262186.9:c.2337G>C ENSP00000262186.5:p.Leu779=
ENST00000330883.8:c.1317G>C ENSP00000328531.4:p.Leu439=
ENST00000430723.4:c.1989G>C ENSP00000387657.4:p.Leu663=
ENST00000461280.1:n.1624G>C
ENST00000473610.5:n.1969G>C
ENST00000532957.5:n.2560G>C