Linked Data
ClinVar Variation Id:
526499
dbSNP Id:
rs202231175
ExAC:
15:89856125 A / G
gnomAD v2:
15-89856125-A-G
gnomAD v3:
15-89312894-A-G
gnomAD v4:
15-89312894-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89312894A>G , CM000677.2:g.89312894A>G | GRCh38 |
| NC_000015.9:g.89856125A>G , CM000677.1:g.89856125A>G | GRCh37 |
| NC_000015.8:g.87657129A>G | NCBI36 |
| NG_011736.1:g.73932A>G , LRG_500:g.73932A>G | |
| NG_008218.2:g.26902T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.3373-10A>G (FANCI) | ENSP00000512830.1:n.3373-10A>G | |
| ENST00000696718.1:c.3115-10A>G (FANCI) | ENSP00000512831.1:n.3115-10A>G | |
| ENST00000696719.1:c.3652-10A>G (FANCI) | ENSP00000512832.1:n.3652-10A>G | |
| ENST00000696721.1:n.5237-10A>G (FANCI) | ||
| ENST00000310775.12:c.3652-10A>G (FANCI) MANE Select | ENSP00000310842.8:n.3652-10A>G | |
| ENST00000635831.1:c.73+3812T>C (POLG) | ||
| ENST00000674831.1:c.3784-10A>G (FANCI) | ENSP00000502474.1:n.3784-10A>G | |
| ENST00000675352.1:n.2857-10A>G (FANCI) | ||
| ENST00000676003.1:c.3610-10A>G (FANCI) | ENSP00000502254.1:n.3610-10A>G | |
| ENST00000676110.1:n.3223A>G (FANCI) | ||
| ENST00000300027.12:c.3472-10A>G (FANCI) | ENSP00000300027.8:n.3472-10A>G | |
| ENST00000310775.11:c.3652-10A>G (FANCI) | ENSP00000310842.7:n.3652-10A>G | |
| ENST00000447611.6:c.3284-10A>G (FANCI) | ENSP00000413249.2:n.3284-10A>G | |
| ENST00000561894.1:c.2948-10A>G (FANCI) | ||
| ENST00000565522.5:n.130-10A>G (FANCI) | ||
| ENST00000566615.1:n.235-10A>G (FANCI) | ||
| ENST00000566895.5:n.3659-10A>G (FANCI) | ||
| NM_001113378.1:c.3652-10A>G , LRG_500t1:c.3652-10A>G (FANCI) | NP_001106849.1:n.3652-10A>G | |
| NM_018193.2:c.3472-10A>G (FANCI) | NP_060663.2:n.3472-10A>G | |
| XM_011521756.1:c.3652-10A>G (FANCI) | XP_011520058.1:n.3652-10A>G | |
| XM_011521757.1:c.3652-10A>G (FANCI) | XP_011520059.1:n.3652-10A>G | |
| XM_011521758.1:c.3652-10A>G (FANCI) | XP_011520060.1:n.3652-10A>G | |
| XM_011521759.1:c.3652-10A>G (FANCI) | XP_011520061.1:n.3652-10A>G | |
| XM_011521760.1:c.3652-10A>G (FANCI) | XP_011520062.1:n.3652-10A>G | |
| XM_011521761.1:c.3652-10A>G (FANCI) | XP_011520063.1:n.3652-10A>G | |
| XM_011521762.1:c.3652-10A>G (FANCI) | XP_011520064.1:n.3652-10A>G | |
| XM_011521763.1:c.3610-10A>G (FANCI) | XP_011520065.1:n.3610-10A>G | |
| XM_011521764.1:c.3472-10A>G (FANCI) | XP_011520066.1:n.3472-10A>G | |
| XM_011521765.1:c.3373-10A>G (FANCI) | XP_011520067.1:n.3373-10A>G | |
| XM_011521766.1:c.3373-10A>G (FANCI) | XP_011520068.1:n.3373-10A>G | |
| XM_011521767.1:c.3373-10A>G (FANCI) | XP_011520069.1:n.3373-10A>G | |
| XM_011521769.1:c.3307-10A>G (FANCI) | XP_011520071.1:n.3307-10A>G | |
| XM_011521756.2:c.3652-10A>G (FANCI) | XP_011520058.1:n.3652-10A>G | |
| XM_011521757.2:c.3652-10A>G (FANCI) | XP_011520059.1:n.3652-10A>G | |
| XM_011521764.2:c.3472-10A>G (FANCI) | XP_011520066.1:n.3472-10A>G | |
| XM_011521767.2:c.3373-10A>G (FANCI) | XP_011520069.1:n.3373-10A>G | |
| NM_001113378.2:c.3652-10A>G (FANCI) MANE Select | NP_001106849.1:n.3652-10A>G | |
| NM_001376910.1:c.3373-10A>G (FANCI) | NP_001363839.1:n.3373-10A>G | |
| NM_001376911.1:c.3652-10A>G (FANCI) | NP_001363840.1:n.3652-10A>G | |
| NM_018193.3:c.3472-10A>G (FANCI) | NP_060663.2:n.3472-10A>G |