LDH info

Canonical Allele Identifier: CA369856082
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950225A>T , CM000669.2:g.150950225A>T GRCh38
NC_000007.13:g.150647313A>T , CM000669.1:g.150647313A>T GRCh37
NC_000007.12:g.150278246A>T NCBI36
NG_008916.1:g.32702T>A , LRG_288:g.32702T>A

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2341T>A , LRG_288t1:c.2341T>A NP_000229.1:p.Phe781Ile
NM_001204798.1:c.1321T>A VV NP_001191727.1:p.Phe441Ile
NM_172056.2:c.2341T>A , LRG_288t2:c.2341T>A NP_742053.1:p.Phe781Ile
NM_172057.2:c.1321T>A , LRG_288t3:c.1321T>A NP_742054.1:p.Phe441Ile
XM_011516185.1:c.2041T>A XP_011514487.1:p.Phe681Ile
XM_011516186.1:c.2341T>A XP_011514488.1:p.Phe781Ile
XM_011516185.2:c.2041T>A XP_011514487.1:p.Phe681Ile
XM_011516186.3:c.2341T>A XP_011514488.1:p.Phe781Ile
XM_017012195.1:c.2191T>A XP_016867684.1:p.Phe731Ile
XM_017012196.1:c.2164T>A XP_016867685.1:p.Phe722Ile
NM_000238.4:c.2341T>A VV MANE Preferred NP_000229.1:p.Phe781Ile
NM_001204798.2:c.1321T>A VV NP_001191727.1:p.Phe441Ile
ENST00000262186.9:c.2341T>A ENSP00000262186.5:p.Phe781Ile
ENST00000330883.8:c.1321T>A ENSP00000328531.4:p.Phe441Ile
ENST00000430723.4:c.1993T>A ENSP00000387657.4:p.Phe665Ile
ENST00000461280.1:n.1628T>A
ENST00000473610.5:n.1973T>A
ENST00000532957.5:n.2564T>A