LDH info

Canonical Allele Identifier: CA10588571
Gene: CHD8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265642
ClinVar RCV Id: RCV000255911
dbSNP Id: rs886039692

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21409870del , CM000676.2:g.21409870del GRCh38
NC_000014.8:g.21878029del , CM000676.1:g.21878029del GRCh37
NC_000014.7:g.20947869del NCBI36
NG_021249.1:g.32429del

Transcript Alleles

HGVS Amino-acid change
NM_001170629.1:c.2345del VV NP_001164100.1:p.His782ProfsTer7
NM_020920.3:c.1508del VV NP_065971.2:p.His503ProfsTer7
NM_001170629.2:c.2345del VV NP_001164100.1:p.His782ProfsTer7
NM_020920.4:c.1508del VV NP_065971.2:p.His503ProfsTer7
ENST00000399982.6:c.2345del ENSP00000382863.2:p.His782ProfsTer7
ENST00000430710.7:c.1508del ENSP00000406288.3:p.His503ProfsTer7
ENST00000554384.1:n.213del
ENST00000555935.1:n.21del
ENST00000555962.5:n.151-6828del
ENST00000557364.5:c.2345del ENSP00000451601.1:p.His782ProfsTer7