LDH info

Canonical Allele Identifier: CA257503
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16548
ClinVar RCV Id: RCV000018014
dbSNP Id: rs121913055

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747183T>G , CM000663.2:g.196747183T>G GRCh38
NC_000001.10:g.196716313T>G , CM000663.1:g.196716313T>G GRCh37
NC_000001.9:g.194982936T>G NCBI36
NG_007259.1:g.100173T>G , LRG_47:g.100173T>G

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.3566T>G , LRG_47t1:c.3566T>G NP_000177.2:p.Leu1189Arg
XR_001737134.2:n.3752T>G
NM_000186.4:c.3566T>G VV MANE Preferred NP_000177.2:p.Leu1189Arg
ENST00000367429.8:c.3566T>G ENSP00000356399.4:p.Leu1189Arg
ENST00000466229.5:n.6664T>G