Linked Data
ClinVar Variation Id:
342382
ClinVar RCV Id:
RCV000384992
dbSNP Id:
rs370459744
ExAC:
3:10140678 C / T
gnomAD v2:
3-10140678-C-T
gnomAD v4:
3-10098994-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10098994C>T , CM000665.2:g.10098994C>T | GRCh38 |
| NC_000003.11:g.10140678C>T , CM000665.1:g.10140678C>T | GRCh37 |
| NC_000003.10:g.10115678C>T | NCBI36 |
| NG_007311.1:g.77566C>T , LRG_306:g.77566C>T | |
| NG_042053.1:g.14238G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681997.1:n.3544C>T (FANCD2) | ||
| ENST00000683263.1:n.3459C>T (FANCD2) | ||
| ENST00000675286.1:c.4281+179C>T (FANCD2) MANE Select | ENSP00000502379.1:n.4281+179C>T | |
| ENST00000676013.1:c.4170+179C>T (FANCD2) | ENSP00000501999.1:n.4170+179C>T | |
| ENST00000287647.7:c.*44C>T (FANCD2) | ENSP00000287647.3:n.*44C>T | |
| ENST00000383807.5:c.4281+179C>T (FANCD2) | ENSP00000373318.1:n.4281+179C>T | |
| ENST00000419585.5:c.4281+179C>T (FANCD2) | ENSP00000398754.1:n.4281+179C>T | |
| ENST00000421731.5:c.2686+179C>T (FANCD2) | ||
| ENST00000431315.5:n.71-4104G>A (FANCD2OS) | ||
| ENST00000470028.1:n.354+179C>T (FANCD2) | ||
| ENST00000524279.1:c.*43+5204G>A (FANCD2OS) | ENSP00000429663.1:n.*43+5204G>A | |
| NM_001018115.1:c.4281+179C>T , LRG_306t1:c.4281+179C>T (FANCD2) | NP_001018125.1:n.4281+179C>T | |
| NM_033084.3:c.*44C>T , LRG_306t2:c.*44C>T (FANCD2) | NP_149075.2:n.*44C>T | |
| NM_173472.1:c.*43+5204G>A (FANCD2OS) | NP_775743.1:n.*43+5204G>A | |
| XM_005264946.2:c.4281+179C>T (FANCD2) | XP_005265003.1:n.4281+179C>T | |
| XM_005264947.2:c.*44C>T (FANCD2) | XP_005265004.1:n.*44C>T | |
| XM_006713021.2:c.*44C>T (FANCD2) | XP_006713084.1:n.*44C>T | |
| XM_006713023.2:c.*44C>T (FANCD2) | XP_006713086.1:n.*44C>T | |
| XM_006713024.2:c.*44C>T (FANCD2) | XP_006713087.1:n.*44C>T | |
| XM_011533480.1:c.*44C>T (FANCD2) | XP_011531782.1:n.*44C>T | |
| NM_001018115.2:c.4281+179C>T (FANCD2) | NP_001018125.1:n.4281+179C>T | |
| NM_001319984.1:c.4281+179C>T (FANCD2) | NP_001306913.1:n.4281+179C>T | |
| NM_033084.4:c.*44C>T (FANCD2) | NP_149075.2:n.*44C>T | |
| NM_001018115.3:c.4281+179C>T (FANCD2) MANE Select | NP_001018125.1:n.4281+179C>T | |
| NM_001319984.2:c.4281+179C>T (FANCD2) | NP_001306913.1:n.4281+179C>T | |
| NM_001374253.1:c.4170+179C>T (FANCD2) | NP_001361182.1:n.4170+179C>T | |
| NM_001374254.1:c.*44C>T (FANCD2) | NP_001361183.1:n.*44C>T | |
| NM_033084.6:c.*44C>T (FANCD2) | NP_149075.2:n.*44C>T | |
| NM_173472.2:c.*43+5204G>A (FANCD2OS) | NP_775743.1:n.*43+5204G>A |