LDH info

Canonical Allele Identifier: CA1305996
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 294526
ClinVar RCV Id: RCV000276556
dbSNP Id: rs121913051
COSMIC: COSM901548

User contributed link-outs

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.3643C>T , LRG_47t1:c.3643C>T NP_000177.2:p.Arg1215Ter
XR_001737134.2:n.3829C>T
NM_000186.4:c.3643C>T VV MANE Preferred NP_000177.2:p.Arg1215Ter
ENST00000367429.8:c.3643C>T ENSP00000356399.4:p.Arg1215Ter
ENST00000466229.5:n.6741C>T