Linked Data
ClinVar Variation Id:
414872
dbSNP Id:
rs116380142
ExAC:
15:89856143 T / C
gnomAD v2:
15-89856143-T-C
gnomAD v3:
15-89312912-T-C
gnomAD v4:
15-89312912-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89312912T>C , CM000677.2:g.89312912T>C | GRCh38 |
| NC_000015.9:g.89856143T>C , CM000677.1:g.89856143T>C | GRCh37 |
| NC_000015.8:g.87657147T>C | NCBI36 |
| NG_011736.1:g.73950T>C , LRG_500:g.73950T>C | |
| NG_008218.2:g.26884A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.3381T>C (FANCI) | ENSP00000512830.1:p.Ser1127= | |
| ENST00000696718.1:c.3123T>C (FANCI) | ENSP00000512831.1:p.Ser1041= | |
| ENST00000696719.1:c.3660T>C (FANCI) | ENSP00000512832.1:p.Ser1220= | |
| ENST00000696721.1:n.5245T>C (FANCI) | ||
| ENST00000310775.12:c.3660T>C (FANCI) MANE Select | ENSP00000310842.8:p.Ser1220= | |
| ENST00000635831.1:c.73+3794A>G (POLG) | ||
| ENST00000674831.1:c.3792T>C (FANCI) | ENSP00000502474.1:p.Ser1264= | |
| ENST00000675352.1:n.2865T>C (FANCI) | ||
| ENST00000676003.1:c.3618T>C (FANCI) | ENSP00000502254.1:p.Ser1206= | |
| ENST00000676110.1:n.3241T>C (FANCI) | ||
| ENST00000300027.12:c.3480T>C (FANCI) | ENSP00000300027.8:p.Ser1160= | |
| ENST00000310775.11:c.3660T>C (FANCI) | ENSP00000310842.7:p.Ser1220= | |
| ENST00000447611.6:c.*4T>C (FANCI) | ENSP00000413249.2:n.*4T>C | |
| ENST00000561894.1:c.2956T>C (FANCI) | ||
| ENST00000565522.5:n.138T>C (FANCI) | ||
| ENST00000566615.1:n.243T>C (FANCI) | ||
| ENST00000566895.5:n.3667T>C (FANCI) | ||
| NM_001113378.1:c.3660T>C , LRG_500t1:c.3660T>C (FANCI) | NP_001106849.1:p.Ser1220= | |
| NM_018193.2:c.3480T>C (FANCI) | NP_060663.2:p.Ser1160= | |
| XM_011521756.1:c.3660T>C (FANCI) | XP_011520058.1:p.Ser1220= | |
| XM_011521757.1:c.3660T>C (FANCI) | XP_011520059.1:p.Ser1220= | |
| XM_011521758.1:c.3660T>C (FANCI) | XP_011520060.1:p.Ser1220= | |
| XM_011521759.1:c.3660T>C (FANCI) | XP_011520061.1:p.Ser1220= | |
| XM_011521760.1:c.3660T>C (FANCI) | XP_011520062.1:p.Ser1220= | |
| XM_011521761.1:c.3660T>C (FANCI) | XP_011520063.1:p.Ser1220= | |
| XM_011521762.1:c.3660T>C (FANCI) | XP_011520064.1:p.Ser1220= | |
| XM_011521763.1:c.3618T>C (FANCI) | XP_011520065.1:p.Ser1206= | |
| XM_011521764.1:c.3480T>C (FANCI) | XP_011520066.1:p.Ser1160= | |
| XM_011521765.1:c.3381T>C (FANCI) | XP_011520067.1:p.Ser1127= | |
| XM_011521766.1:c.3381T>C (FANCI) | XP_011520068.1:p.Ser1127= | |
| XM_011521767.1:c.3381T>C (FANCI) | XP_011520069.1:p.Ser1127= | |
| XM_011521769.1:c.3315T>C (FANCI) | XP_011520071.1:p.Ser1105= | |
| XM_011521756.2:c.3660T>C (FANCI) | XP_011520058.1:p.Ser1220= | |
| XM_011521757.2:c.3660T>C (FANCI) | XP_011520059.1:p.Ser1220= | |
| XM_011521764.2:c.3480T>C (FANCI) | XP_011520066.1:p.Ser1160= | |
| XM_011521767.2:c.3381T>C (FANCI) | XP_011520069.1:p.Ser1127= | |
| NM_001113378.2:c.3660T>C (FANCI) MANE Select | NP_001106849.1:p.Ser1220= | |
| NM_001376910.1:c.3381T>C (FANCI) | NP_001363839.1:p.Ser1127= | |
| NM_001376911.1:c.3660T>C (FANCI) | NP_001363840.1:p.Ser1220= | |
| NM_018193.3:c.3480T>C (FANCI) | NP_060663.2:p.Ser1160= |