Linked Data
ClinVar Variation Id:
973
dbSNP Id:
rs121918164
ExAC:
15:89858549 C / T
gnomAD v2:
15-89858549-C-T
gnomAD v3:
15-89315318-C-T
gnomAD v4:
15-89315318-C-T
PubMed:
PMID:17452773
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89315318C>T , CM000677.2:g.89315318C>T | GRCh38 |
| NC_000015.9:g.89858549C>T , CM000677.1:g.89858549C>T | GRCh37 |
| NC_000015.8:g.87659553C>T | NCBI36 |
| NG_008218.1:g.24478G>A | |
| NG_011736.1:g.76356C>T , LRG_500:g.76356C>T | |
| NG_008218.2:g.24478G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.3574C>T (FANCI) | ENSP00000512830.1:p.Arg1192Ter | |
| ENST00000696718.1:c.3316C>T (FANCI) | ENSP00000512831.1:p.Arg1106Ter | |
| ENST00000696719.1:c.3853C>T (FANCI) | ENSP00000512832.1:p.Arg1285Ter | |
| ENST00000696721.1:n.5438C>T (FANCI) | ||
| ENST00000310775.12:c.3853C>T (FANCI) MANE Select | ENSP00000310842.8:p.Arg1285Ter | |
| ENST00000635831.1:c.73+1388G>A (POLG) | ||
| ENST00000674831.1:c.3985C>T (FANCI) | ENSP00000502474.1:p.Arg1329Ter | |
| ENST00000675352.1:n.3058C>T (FANCI) | ||
| ENST00000676003.1:c.3811C>T (FANCI) | ENSP00000502254.1:p.Arg1271Ter | |
| ENST00000676110.1:n.3434C>T (FANCI) | ||
| ENST00000300027.12:c.3673C>T (FANCI) | ENSP00000300027.8:p.Arg1225Ter | |
| ENST00000310775.11:c.3853C>T (FANCI) | ENSP00000310842.7:p.Arg1285Ter | |
| ENST00000447611.6:c.*197C>T (FANCI) | ENSP00000413249.2:n.*197C>T | |
| ENST00000561894.1:c.3149C>T (FANCI) | ||
| ENST00000566615.1:n.436C>T (FANCI) | ||
| ENST00000566895.5:n.3860C>T (FANCI) | ||
| NM_001113378.1:c.3853C>T , LRG_500t1:c.3853C>T (FANCI) | NP_001106849.1:p.Arg1285Ter | |
| NM_018193.2:c.3673C>T (FANCI) | NP_060663.2:p.Arg1225Ter | |
| XM_011521756.1:c.3853C>T (FANCI) | XP_011520058.1:p.Arg1285Ter | |
| XM_011521757.1:c.3853C>T (FANCI) | XP_011520059.1:p.Arg1285Ter | |
| XM_011521758.1:c.3853C>T (FANCI) | XP_011520060.1:p.Arg1285Ter | |
| XM_011521759.1:c.3853C>T (FANCI) | XP_011520061.1:p.Arg1285Ter | |
| XM_011521760.1:c.3853C>T (FANCI) | XP_011520062.1:p.Arg1285Ter | |
| XM_011521761.1:c.3853C>T (FANCI) | XP_011520063.1:p.Arg1285Ter | |
| XM_011521762.1:c.3853C>T (FANCI) | XP_011520064.1:p.Arg1285Ter | |
| XM_011521763.1:c.3811C>T (FANCI) | XP_011520065.1:p.Arg1271Ter | |
| XM_011521764.1:c.3673C>T (FANCI) | XP_011520066.1:p.Arg1225Ter | |
| XM_011521765.1:c.3574C>T (FANCI) | XP_011520067.1:p.Arg1192Ter | |
| XM_011521766.1:c.3574C>T (FANCI) | XP_011520068.1:p.Arg1192Ter | |
| XM_011521767.1:c.3574C>T (FANCI) | XP_011520069.1:p.Arg1192Ter | |
| XM_011521769.1:c.3508C>T (FANCI) | XP_011520071.1:p.Arg1170Ter | |
| XM_011521756.2:c.3853C>T (FANCI) | XP_011520058.1:p.Arg1285Ter | |
| XM_011521757.2:c.3853C>T (FANCI) | XP_011520059.1:p.Arg1285Ter | |
| XM_011521764.2:c.3673C>T (FANCI) | XP_011520066.1:p.Arg1225Ter | |
| XM_011521767.2:c.3574C>T (FANCI) | XP_011520069.1:p.Arg1192Ter | |
| NM_001113378.2:c.3853C>T (FANCI) MANE Select | NP_001106849.1:p.Arg1285Ter | |
| NM_001376910.1:c.3574C>T (FANCI) | NP_001363839.1:p.Arg1192Ter | |
| NM_001376911.1:c.3853C>T (FANCI) | NP_001363840.1:p.Arg1285Ter | |
| NM_018193.3:c.3673C>T (FANCI) | NP_060663.2:p.Arg1225Ter |