Revel Score:
ENST00000389301 (MANE Select)
0.550
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003069 (NFE)
Exomes Max Group AF
0.00003257 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89739236T>G , CM000678.2:g.89739236T>G | GRCh38 |
| NC_000016.9:g.89805644T>G , CM000678.1:g.89805644T>G | GRCh37 |
| NC_000016.8:g.88333145T>G | NCBI36 |
| NG_011706.1:g.82422A>C , LRG_495:g.82422A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2637A>C (FANCA) | ENSP00000512522.1:n.*2637A>C | |
| ENST00000564475.6:c.4064A>C (FANCA) | ENSP00000454977.2:p.His1355Pro | |
| ENST00000567510.2:c.2634A>C (FANCA) | ENSP00000455969.1:n.2634A>C | |
| ENST00000568369.6:c.4064A>C (FANCA) | ENSP00000456829.1:p.His1355Pro | |
| ENST00000696274.1:n.4025A>C (FANCA) | ||
| ENST00000696275.1:c.*3299A>C (FANCA) | ENSP00000512517.1:n.*3299A>C | |
| ENST00000696286.1:c.3988A>C (FANCA) | ENSP00000512523.1:p.Met1330Leu | |
| ENST00000696287.1:c.3935A>C (FANCA) | ENSP00000512524.1:p.His1312Pro | |
| ENST00000696291.1:c.*3496A>C (FANCA) | ENSP00000512530.1:n.*3496A>C | |
| ENST00000389301.8:c.4064A>C (FANCA) MANE Select | ENSP00000373952.3:p.His1355Pro | |
| ENST00000443381.7:c.*990T>G (ZNF276) MANE Select | ENSP00000415836.2:n.*990T>G | |
| ENST00000289816.9:c.*990T>G (ZNF276) | ENSP00000289816.5:n.*990T>G | |
| ENST00000389301.7:c.4064A>C (FANCA) | ENSP00000373952.3:p.His1355Pro | |
| ENST00000561722.5:c.215A>C (FANCA) | ENSP00000456608.1:p.His72Pro | |
| ENST00000562424.1:n.335A>C (FANCA) | ||
| ENST00000563983.5:n.2823T>G (ZNF276) | ||
| ENST00000564475.5:c.394A>C (FANCA) | ||
| ENST00000564870.1:c.265A>C (FANCA) | ||
| ENST00000567879.5:c.443A>C (FANCA) | ENSP00000457006.1:p.His148Pro | |
| ENST00000568369.5:c.4064A>C (FANCA) | ENSP00000456829.1:p.His1355Pro | |
| NM_000135.2:c.4064A>C , LRG_495t1:c.4064A>C (FANCA) | NP_000126.2:p.His1355Pro | |
| NM_001113525.1:c.*990T>G (ZNF276) | NP_001106997.1:n.*990T>G | |
| NM_001286167.1:c.4064A>C (FANCA) | NP_001273096.1:p.His1355Pro | |
| NM_152287.3:c.*990T>G (ZNF276) | NP_689500.2:n.*990T>G | |
| NR_110122.1:n.3007T>G (ZNF276) | ||
| NR_110126.1:n.2890T>G (ZNF276) | ||
| NR_110128.1:n.2813T>G (ZNF276) | ||
| NR_110129.1:n.2902T>G (ZNF276) | ||
| XM_005256294.3:c.4064A>C (FANCA) | XP_005256351.1:p.His1355Pro | |
| XM_011522945.1:c.3935A>C (FANCA) | XP_011521247.1:p.His1312Pro | |
| XM_011522946.1:c.3041A>C (FANCA) | XP_011521248.1:p.His1014Pro | |
| XM_011522947.1:c.3041A>C (FANCA) | XP_011521249.1:p.His1014Pro | |
| XR_933244.1:n.4031A>C (FANCA) | ||
| XR_933245.1:n.3968A>C (FANCA) | ||
| NM_000135.3:c.4064A>C (FANCA) | NP_000126.2:p.His1355Pro | |
| NM_001286167.2:c.4064A>C (FANCA) | NP_001273096.1:p.His1355Pro | |
| XM_005256294.4:c.4064A>C (FANCA) | XP_005256351.1:p.His1355Pro | |
| XM_011522945.2:c.3935A>C (FANCA) | XP_011521247.1:p.His1312Pro | |
| XM_011522946.3:c.3041A>C (FANCA) | XP_011521248.1:p.His1014Pro | |
| XM_011522947.2:c.3041A>C (FANCA) | XP_011521249.1:p.His1014Pro | |
| XM_017023044.2:c.3935A>C (FANCA) | XP_016878533.1:p.His1312Pro | |
| XM_017023890.1:c.*990T>G (ZNF276) | XP_016879379.1:n.*990T>G | |
| XM_024450189.1:c.3041A>C (FANCA) | XP_024305957.1:p.His1014Pro | |
| XR_001751866.1:n.3934A>C (FANCA) | ||
| XR_933244.2:n.4031A>C (FANCA) | ||
| XR_933245.2:n.3968A>C (FANCA) | ||
| XR_933484.2:n.3001T>G (ZNF276) | ||
| NM_000135.4:c.4064A>C (FANCA) MANE Select | NP_000126.2:p.His1355Pro | |
| NM_001113525.2:c.*990T>G (ZNF276) MANE Select | NP_001106997.1:n.*990T>G | |
| NM_001286167.3:c.4064A>C (FANCA) | NP_001273096.1:p.His1355Pro | |
| NM_152287.4:c.*990T>G (ZNF276) | NP_689500.2:n.*990T>G | |
| NR_110122.2:n.2990T>G (ZNF276) | ||
| NR_110126.2:n.2873T>G (ZNF276) | ||
| NR_110129.2:n.2907T>G (ZNF276) | ||
| NR_110128.2:n.2813T>G (ZNF276) |