LDH info

Canonical Allele Identifier: CA10588915
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265982
ClinVar RCV Id: RCV000256395
dbSNP Id: rs886039869

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196740786T>C , CM000663.2:g.196740786T>C GRCh38
NC_000001.10:g.196709916T>C , CM000663.1:g.196709916T>C GRCh37
NC_000001.9:g.194976539T>C NCBI36
NG_007259.1:g.93776T>C , LRG_47:g.93776T>C

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.2950T>C , LRG_47t1:c.2950T>C NP_000177.2:p.Cys984Arg
XR_001737134.2:n.3136T>C
NM_000186.4:c.2950T>C VV MANE Preferred NP_000177.2:p.Cys984Arg
ENST00000367429.8:c.2950T>C ENSP00000356399.4:p.Cys984Arg
ENST00000466229.5:n.4966T>C
ENST00000470918.1:n.453T>C