Linked Data
ClinVar Variation Id:
317296
dbSNP Id:
rs552581027
ExAC:
15:89857828 G / A
gnomAD v2:
15-89857828-G-A
gnomAD v3:
15-89314597-G-A
gnomAD v4:
15-89314597-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89314597G>A , CM000677.2:g.89314597G>A | GRCh38 |
| NC_000015.9:g.89857828G>A , CM000677.1:g.89857828G>A | GRCh37 |
| NC_000015.8:g.87658832G>A | NCBI36 |
| NG_008218.1:g.25199C>T | |
| NG_011736.1:g.75635G>A , LRG_500:g.75635G>A | |
| NG_008218.2:g.25199C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.3442-15G>A (FANCI) | ENSP00000512830.1:n.3442-15G>A | |
| ENST00000696718.1:c.3184-15G>A (FANCI) | ENSP00000512831.1:n.3184-15G>A | |
| ENST00000696719.1:c.3721-15G>A (FANCI) | ENSP00000512832.1:n.3721-15G>A | |
| ENST00000696721.1:n.5306-15G>A (FANCI) | ||
| ENST00000310775.12:c.3721-15G>A (FANCI) MANE Select | ENSP00000310842.8:n.3721-15G>A | |
| ENST00000635831.1:c.73+2109C>T (POLG) | ||
| ENST00000674831.1:c.3853-15G>A (FANCI) | ENSP00000502474.1:n.3853-15G>A | |
| ENST00000675352.1:n.2926-15G>A (FANCI) | ||
| ENST00000676003.1:c.3679-15G>A (FANCI) | ENSP00000502254.1:n.3679-15G>A | |
| ENST00000676110.1:n.3302-15G>A (FANCI) | ||
| ENST00000300027.12:c.3541-15G>A (FANCI) | ENSP00000300027.8:n.3541-15G>A | |
| ENST00000310775.11:c.3721-15G>A (FANCI) | ENSP00000310842.7:n.3721-15G>A | |
| ENST00000447611.6:c.*65-15G>A (FANCI) | ENSP00000413249.2:n.*65-15G>A | |
| ENST00000561894.1:c.3017-15G>A (FANCI) | ||
| ENST00000565522.5:n.199-15G>A (FANCI) | ||
| ENST00000566615.1:n.304-15G>A (FANCI) | ||
| ENST00000566895.5:n.3728-15G>A (FANCI) | ||
| NM_001113378.1:c.3721-15G>A , LRG_500t1:c.3721-15G>A (FANCI) | NP_001106849.1:n.3721-15G>A | |
| NM_018193.2:c.3541-15G>A (FANCI) | NP_060663.2:n.3541-15G>A | |
| XM_011521756.1:c.3721-15G>A (FANCI) | XP_011520058.1:n.3721-15G>A | |
| XM_011521757.1:c.3721-15G>A (FANCI) | XP_011520059.1:n.3721-15G>A | |
| XM_011521758.1:c.3721-15G>A (FANCI) | XP_011520060.1:n.3721-15G>A | |
| XM_011521759.1:c.3721-15G>A (FANCI) | XP_011520061.1:n.3721-15G>A | |
| XM_011521760.1:c.3721-15G>A (FANCI) | XP_011520062.1:n.3721-15G>A | |
| XM_011521761.1:c.3721-15G>A (FANCI) | XP_011520063.1:n.3721-15G>A | |
| XM_011521762.1:c.3721-15G>A (FANCI) | XP_011520064.1:n.3721-15G>A | |
| XM_011521763.1:c.3679-15G>A (FANCI) | XP_011520065.1:n.3679-15G>A | |
| XM_011521764.1:c.3541-15G>A (FANCI) | XP_011520066.1:n.3541-15G>A | |
| XM_011521765.1:c.3442-15G>A (FANCI) | XP_011520067.1:n.3442-15G>A | |
| XM_011521766.1:c.3442-15G>A (FANCI) | XP_011520068.1:n.3442-15G>A | |
| XM_011521767.1:c.3442-15G>A (FANCI) | XP_011520069.1:n.3442-15G>A | |
| XM_011521769.1:c.3376-15G>A (FANCI) | XP_011520071.1:n.3376-15G>A | |
| XM_011521756.2:c.3721-15G>A (FANCI) | XP_011520058.1:n.3721-15G>A | |
| XM_011521757.2:c.3721-15G>A (FANCI) | XP_011520059.1:n.3721-15G>A | |
| XM_011521764.2:c.3541-15G>A (FANCI) | XP_011520066.1:n.3541-15G>A | |
| XM_011521767.2:c.3442-15G>A (FANCI) | XP_011520069.1:n.3442-15G>A | |
| NM_001113378.2:c.3721-15G>A (FANCI) MANE Select | NP_001106849.1:n.3721-15G>A | |
| NM_001376910.1:c.3442-15G>A (FANCI) | NP_001363839.1:n.3442-15G>A | |
| NM_001376911.1:c.3721-15G>A (FANCI) | NP_001363840.1:n.3721-15G>A | |
| NM_018193.3:c.3541-15G>A (FANCI) | NP_060663.2:n.3541-15G>A |