Linked Data
ClinVar Variation Id:
972
ClinVar RCV Id:
RCV000001023
dbSNP Id:
rs121918163
gnomAD v4:
15-89315319-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89315319G>A , CM000677.2:g.89315319G>A | GRCh38 |
| NC_000015.9:g.89858550G>A , CM000677.1:g.89858550G>A | GRCh37 |
| NC_000015.8:g.87659554G>A | NCBI36 |
| NG_008218.1:g.24477C>T | |
| NG_011736.1:g.76357G>A , LRG_500:g.76357G>A | |
| NG_008218.2:g.24477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.3575G>A (FANCI) | ENSP00000512830.1:p.Arg1192Gln | |
| ENST00000696718.1:c.3317G>A (FANCI) | ENSP00000512831.1:p.Arg1106Gln | |
| ENST00000696719.1:c.3854G>A (FANCI) | ENSP00000512832.1:p.Arg1285Gln | |
| ENST00000696721.1:n.5439G>A (FANCI) | ||
| ENST00000310775.12:c.3854G>A (FANCI) MANE Select | ENSP00000310842.8:p.Arg1285Gln | |
| ENST00000635831.1:c.73+1387C>T (POLG) | ||
| ENST00000674831.1:c.3986G>A (FANCI) | ENSP00000502474.1:p.Arg1329Gln | |
| ENST00000675352.1:n.3059G>A (FANCI) | ||
| ENST00000676003.1:c.3812G>A (FANCI) | ENSP00000502254.1:p.Arg1271Gln | |
| ENST00000676110.1:n.3435G>A (FANCI) | ||
| ENST00000300027.12:c.3674G>A (FANCI) | ENSP00000300027.8:p.Arg1225Gln | |
| ENST00000310775.11:c.3854G>A (FANCI) | ENSP00000310842.7:p.Arg1285Gln | |
| ENST00000447611.6:c.*198G>A (FANCI) | ENSP00000413249.2:n.*198G>A | |
| ENST00000561894.1:c.3150G>A (FANCI) | ||
| ENST00000566615.1:n.437G>A (FANCI) | ||
| ENST00000566895.5:n.3861G>A (FANCI) | ||
| NM_001113378.1:c.3854G>A , LRG_500t1:c.3854G>A (FANCI) | NP_001106849.1:p.Arg1285Gln | |
| NM_018193.2:c.3674G>A (FANCI) | NP_060663.2:p.Arg1225Gln | |
| XM_011521756.1:c.3854G>A (FANCI) | XP_011520058.1:p.Arg1285Gln | |
| XM_011521757.1:c.3854G>A (FANCI) | XP_011520059.1:p.Arg1285Gln | |
| XM_011521758.1:c.3854G>A (FANCI) | XP_011520060.1:p.Arg1285Gln | |
| XM_011521759.1:c.3854G>A (FANCI) | XP_011520061.1:p.Arg1285Gln | |
| XM_011521760.1:c.3854G>A (FANCI) | XP_011520062.1:p.Arg1285Gln | |
| XM_011521761.1:c.3854G>A (FANCI) | XP_011520063.1:p.Arg1285Gln | |
| XM_011521762.1:c.3854G>A (FANCI) | XP_011520064.1:p.Arg1285Gln | |
| XM_011521763.1:c.3812G>A (FANCI) | XP_011520065.1:p.Arg1271Gln | |
| XM_011521764.1:c.3674G>A (FANCI) | XP_011520066.1:p.Arg1225Gln | |
| XM_011521765.1:c.3575G>A (FANCI) | XP_011520067.1:p.Arg1192Gln | |
| XM_011521766.1:c.3575G>A (FANCI) | XP_011520068.1:p.Arg1192Gln | |
| XM_011521767.1:c.3575G>A (FANCI) | XP_011520069.1:p.Arg1192Gln | |
| XM_011521769.1:c.3509G>A (FANCI) | XP_011520071.1:p.Arg1170Gln | |
| XM_011521756.2:c.3854G>A (FANCI) | XP_011520058.1:p.Arg1285Gln | |
| XM_011521757.2:c.3854G>A (FANCI) | XP_011520059.1:p.Arg1285Gln | |
| XM_011521764.2:c.3674G>A (FANCI) | XP_011520066.1:p.Arg1225Gln | |
| XM_011521767.2:c.3575G>A (FANCI) | XP_011520069.1:p.Arg1192Gln | |
| NM_001113378.2:c.3854G>A (FANCI) MANE Select | NP_001106849.1:p.Arg1285Gln | |
| NM_001376910.1:c.3575G>A (FANCI) | NP_001363839.1:p.Arg1192Gln | |
| NM_001376911.1:c.3854G>A (FANCI) | NP_001363840.1:p.Arg1285Gln | |
| NM_018193.3:c.3674G>A (FANCI) | NP_060663.2:p.Arg1225Gln |