Linked Data
ClinVar Variation Id:
257489
dbSNP Id:
rs1138465
ExAC:
15:89858602 T / C
gnomAD v2:
15-89858602-T-C
gnomAD v3:
15-89315371-T-C
gnomAD v4:
15-89315371-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89315371T>C , CM000677.2:g.89315371T>C | GRCh38 |
| NC_000015.9:g.89858602T>C , CM000677.1:g.89858602T>C | GRCh37 |
| NC_000015.8:g.87659606T>C | NCBI36 |
| NG_008218.1:g.24425A>G | |
| NG_011736.1:g.76409T>C , LRG_500:g.76409T>C | |
| NG_008218.2:g.24425A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696717.1:c.3627T>C (FANCI) | ENSP00000512830.1:p.Gly1209= | |
| ENST00000696718.1:c.3369T>C (FANCI) | ENSP00000512831.1:p.Gly1123= | |
| ENST00000696719.1:c.3906T>C (FANCI) | ENSP00000512832.1:p.Gly1302= | |
| ENST00000696721.1:n.5491T>C (FANCI) | ||
| ENST00000310775.12:c.3906T>C (FANCI) MANE Select | ENSP00000310842.8:p.Gly1302= | |
| ENST00000635831.1:c.73+1335A>G (POLG) | ||
| ENST00000674831.1:c.4038T>C (FANCI) | ENSP00000502474.1:p.Gly1346= | |
| ENST00000675352.1:n.3111T>C (FANCI) | ||
| ENST00000676003.1:c.3864T>C (FANCI) | ENSP00000502254.1:p.Gly1288= | |
| ENST00000676110.1:n.3487T>C (FANCI) | ||
| ENST00000300027.12:c.3726T>C (FANCI) | ENSP00000300027.8:p.Gly1242= | |
| ENST00000310775.11:c.3906T>C (FANCI) | ENSP00000310842.7:p.Gly1302= | |
| ENST00000447611.6:c.*250T>C (FANCI) | ENSP00000413249.2:n.*250T>C | |
| ENST00000561894.1:c.3202T>C (FANCI) | ||
| ENST00000566615.1:n.489T>C (FANCI) | ||
| ENST00000566895.5:n.3913T>C (FANCI) | ||
| NM_001113378.1:c.3906T>C , LRG_500t1:c.3906T>C (FANCI) | NP_001106849.1:p.Gly1302= | |
| NM_018193.2:c.3726T>C (FANCI) | NP_060663.2:p.Gly1242= | |
| XM_011521756.1:c.3906T>C (FANCI) | XP_011520058.1:p.Gly1302= | |
| XM_011521757.1:c.3906T>C (FANCI) | XP_011520059.1:p.Gly1302= | |
| XM_011521758.1:c.3906T>C (FANCI) | XP_011520060.1:p.Gly1302= | |
| XM_011521759.1:c.3906T>C (FANCI) | XP_011520061.1:p.Gly1302= | |
| XM_011521760.1:c.3906T>C (FANCI) | XP_011520062.1:p.Gly1302= | |
| XM_011521761.1:c.3906T>C (FANCI) | XP_011520063.1:p.Gly1302= | |
| XM_011521762.1:c.3906T>C (FANCI) | XP_011520064.1:p.Gly1302= | |
| XM_011521763.1:c.3864T>C (FANCI) | XP_011520065.1:p.Gly1288= | |
| XM_011521764.1:c.3726T>C (FANCI) | XP_011520066.1:p.Gly1242= | |
| XM_011521765.1:c.3627T>C (FANCI) | XP_011520067.1:p.Gly1209= | |
| XM_011521766.1:c.3627T>C (FANCI) | XP_011520068.1:p.Gly1209= | |
| XM_011521767.1:c.3627T>C (FANCI) | XP_011520069.1:p.Gly1209= | |
| XM_011521769.1:c.3561T>C (FANCI) | XP_011520071.1:p.Gly1187= | |
| XM_011521756.2:c.3906T>C (FANCI) | XP_011520058.1:p.Gly1302= | |
| XM_011521757.2:c.3906T>C (FANCI) | XP_011520059.1:p.Gly1302= | |
| XM_011521764.2:c.3726T>C (FANCI) | XP_011520066.1:p.Gly1242= | |
| XM_011521767.2:c.3627T>C (FANCI) | XP_011520069.1:p.Gly1209= | |
| NM_001113378.2:c.3906T>C (FANCI) MANE Select | NP_001106849.1:p.Gly1302= | |
| NM_001376910.1:c.3627T>C (FANCI) | NP_001363839.1:p.Gly1209= | |
| NM_001376911.1:c.3906T>C (FANCI) | NP_001363840.1:p.Gly1302= | |
| NM_018193.3:c.3726T>C (FANCI) | NP_060663.2:p.Gly1242= |