Linked Data
ClinVar Variation Id:
342395
ClinVar RCV Id:
RCV000304461
dbSNP Id:
rs886057697
gnomAD v4:
3-10099638-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10099638A>G , CM000665.2:g.10099638A>G | GRCh38 |
| NC_000003.11:g.10141322A>G , CM000665.1:g.10141322A>G | GRCh37 |
| NC_000003.10:g.10116322A>G | NCBI36 |
| NG_007311.1:g.78210A>G , LRG_306:g.78210A>G | |
| NG_042053.1:g.13594T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675286.1:c.4281+823A>G (FANCD2) MANE Select | ENSP00000502379.1:n.4281+823A>G | |
| ENST00000676013.1:c.4170+823A>G (FANCD2) | ENSP00000501999.1:n.4170+823A>G | |
| ENST00000287647.7:c.*688A>G (FANCD2) | ENSP00000287647.3:n.*688A>G | |
| ENST00000383807.5:c.4281+823A>G (FANCD2) | ENSP00000373318.1:n.4281+823A>G | |
| ENST00000419585.5:c.4281+823A>G (FANCD2) | ENSP00000398754.1:n.4281+823A>G | |
| ENST00000421731.5:c.2686+823A>G (FANCD2) | ||
| ENST00000431315.5:n.71-4748T>C (FANCD2OS) | ||
| ENST00000470028.1:n.354+823A>G (FANCD2) | ||
| ENST00000524279.1:c.*43+4560T>C (FANCD2OS) | ENSP00000429663.1:n.*43+4560T>C | |
| NM_001018115.1:c.4281+823A>G , LRG_306t1:c.4281+823A>G (FANCD2) | NP_001018125.1:n.4281+823A>G | |
| NM_033084.3:c.*688A>G , LRG_306t2:c.*688A>G (FANCD2) | NP_149075.2:n.*688A>G | |
| NM_173472.1:c.*43+4560T>C (FANCD2OS) | NP_775743.1:n.*43+4560T>C | |
| XM_005264946.2:c.4281+823A>G (FANCD2) | XP_005265003.1:n.4281+823A>G | |
| NM_001018115.2:c.4281+823A>G (FANCD2) | NP_001018125.1:n.4281+823A>G | |
| NM_001319984.1:c.4281+823A>G (FANCD2) | NP_001306913.1:n.4281+823A>G | |
| NM_033084.4:c.*688A>G (FANCD2) | NP_149075.2:n.*688A>G | |
| NM_001018115.3:c.4281+823A>G (FANCD2) MANE Select | NP_001018125.1:n.4281+823A>G | |
| NM_001319984.2:c.4281+823A>G (FANCD2) | NP_001306913.1:n.4281+823A>G | |
| NM_001374253.1:c.4170+823A>G (FANCD2) | NP_001361182.1:n.4170+823A>G | |
| NM_173472.2:c.*43+4560T>C (FANCD2OS) | NP_775743.1:n.*43+4560T>C |