LDH info

Canonical Allele Identifier: CA257490
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16542
ClinVar RCV Id: RCV000018008
dbSNP Id: rs121913051

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747260C>G , CM000663.2:g.196747260C>G GRCh38
NC_000001.10:g.196716390C>G , CM000663.1:g.196716390C>G GRCh37
NC_000001.9:g.194983013C>G NCBI36
NG_007259.1:g.100250C>G , LRG_47:g.100250C>G

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.3643C>G , LRG_47t1:c.3643C>G NP_000177.2:p.Arg1215Gly
XR_001737134.2:n.3829C>G
NM_000186.4:c.3643C>G VV MANE Preferred NP_000177.2:p.Arg1215Gly
ENST00000367429.8:c.3643C>G ENSP00000356399.4:p.Arg1215Gly
ENST00000466229.5:n.6741C>G