LDH info

Canonical Allele Identifier: CA202080
Gene: CHD8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 196013
ClinVar RCV Id: RCV000176725
dbSNP Id: rs794727436

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21395816C>T , CM000676.2:g.21395816C>T GRCh38
NC_000014.8:g.21863975C>T , CM000676.1:g.21863975C>T GRCh37
NC_000014.7:g.20933815C>T NCBI36
NG_021249.1:g.46483G>A

Transcript Alleles

HGVS Amino-acid change
NM_001170629.1:c.5127+1G>A VV NP_001164100.1:p.=
NM_020920.3:c.4290+1G>A VV NP_065971.2:p.=
NM_001170629.2:c.5127+1G>A VV NP_001164100.1:p.=
NM_020920.4:c.4290+1G>A VV NP_065971.2:p.=
ENST00000399982.6:c.5127+1G>A ENSP00000382863.2:p.=
ENST00000430710.7:c.4290+1G>A ENSP00000406288.3:p.=
ENST00000555962.5:n.1081+1G>A
ENST00000557364.5:c.5127+1G>A ENSP00000451601.1:p.=