gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003587 (SAS)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00003766 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89738909C>T , CM000678.2:g.89738909C>T | GRCh38 |
| NC_000016.9:g.89805317C>T , CM000678.1:g.89805317C>T | GRCh37 |
| NC_000016.8:g.88332818C>T | NCBI36 |
| NG_011706.1:g.82749G>A , LRG_495:g.82749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2806G>A (FANCA) | ENSP00000512522.1:n.*2806G>A | |
| ENST00000564475.6:c.4237G>A (FANCA) | ENSP00000454977.2:p.Glu1413Lys | |
| ENST00000567510.2:c.2807G>A (FANCA) | ENSP00000455969.1:n.2807G>A | |
| ENST00000568369.6:c.4237G>A (FANCA) | ENSP00000456829.1:p.Glu1413Lys | |
| ENST00000696274.1:n.4194G>A (FANCA) | ||
| ENST00000696275.1:c.*3472G>A (FANCA) | ENSP00000512517.1:n.*3472G>A | |
| ENST00000696286.1:c.*146G>A (FANCA) | ENSP00000512523.1:n.*146G>A | |
| ENST00000696287.1:c.4108G>A (FANCA) | ENSP00000512524.1:p.Glu1370Lys | |
| ENST00000696291.1:c.*3665G>A (FANCA) | ENSP00000512530.1:n.*3665G>A | |
| ENST00000389301.8:c.4233G>A (FANCA) MANE Select | ENSP00000373952.3:p.Pro1411= | |
| ENST00000443381.7:c.*663C>T (ZNF276) MANE Select | ENSP00000415836.2:n.*663C>T | |
| ENST00000289816.9:c.*663C>T (ZNF276) | ENSP00000289816.5:n.*663C>T | |
| ENST00000389301.7:c.4233G>A (FANCA) | ENSP00000373952.3:p.Pro1411= | |
| ENST00000561722.5:c.453G>A (FANCA) | ENSP00000456608.1:p.Pro151= | |
| ENST00000562424.1:n.504G>A (FANCA) | ||
| ENST00000563983.5:n.2496C>T (ZNF276) | ||
| ENST00000564475.5:c.567G>A (FANCA) | ||
| ENST00000564870.1:c.434G>A (FANCA) | ||
| ENST00000567879.5:c.607G>A (FANCA) | ENSP00000457006.1:p.Glu203Lys | |
| ENST00000568369.5:c.4237G>A (FANCA) | ENSP00000456829.1:p.Glu1413Lys | |
| NM_000135.2:c.4233G>A , LRG_495t1:c.4233G>A (FANCA) | NP_000126.2:p.Pro1411= | |
| NM_001113525.1:c.*663C>T (ZNF276) | NP_001106997.1:n.*663C>T | |
| NM_001286167.1:c.4237G>A (FANCA) | NP_001273096.1:p.Glu1413Lys | |
| NM_152287.3:c.*663C>T (ZNF276) | NP_689500.2:n.*663C>T | |
| NR_110122.1:n.2680C>T (ZNF276) | ||
| NR_110126.1:n.2563C>T (ZNF276) | ||
| NR_110128.1:n.2486C>T (ZNF276) | ||
| NR_110129.1:n.2575C>T (ZNF276) | ||
| XM_005256294.3:c.4237G>A (FANCA) | XP_005256351.1:p.Glu1413Lys | |
| XM_011522945.1:c.4108G>A (FANCA) | XP_011521247.1:p.Glu1370Lys | |
| XM_011522946.1:c.3214G>A (FANCA) | XP_011521248.1:p.Glu1072Lys | |
| XM_011522947.1:c.3214G>A (FANCA) | XP_011521249.1:p.Glu1072Lys | |
| XR_933244.1:n.4200G>A (FANCA) | ||
| XR_933245.1:n.4137G>A (FANCA) | ||
| NM_000135.3:c.4233G>A (FANCA) | NP_000126.2:p.Pro1411= | |
| NM_001286167.2:c.4237G>A (FANCA) | NP_001273096.1:p.Glu1413Lys | |
| XM_005256294.4:c.4237G>A (FANCA) | XP_005256351.1:p.Glu1413Lys | |
| XM_011522945.2:c.4108G>A (FANCA) | XP_011521247.1:p.Glu1370Lys | |
| XM_011522946.3:c.3214G>A (FANCA) | XP_011521248.1:p.Glu1072Lys | |
| XM_011522947.2:c.3214G>A (FANCA) | XP_011521249.1:p.Glu1072Lys | |
| XM_017023044.2:c.4104G>A (FANCA) | XP_016878533.1:p.Pro1368= | |
| XM_017023890.1:c.*663C>T (ZNF276) | XP_016879379.1:n.*663C>T | |
| XM_024450189.1:c.3214G>A (FANCA) | XP_024305957.1:p.Glu1072Lys | |
| XR_933244.2:n.4200G>A (FANCA) | ||
| XR_933245.2:n.4137G>A (FANCA) | ||
| XR_933484.2:n.2674C>T (ZNF276) | ||
| NM_000135.4:c.4233G>A (FANCA) MANE Select | NP_000126.2:p.Pro1411= | |
| NM_001113525.2:c.*663C>T (ZNF276) MANE Select | NP_001106997.1:n.*663C>T | |
| NM_001286167.3:c.4237G>A (FANCA) | NP_001273096.1:p.Glu1413Lys | |
| NM_152287.4:c.*663C>T (ZNF276) | NP_689500.2:n.*663C>T | |
| NR_110122.2:n.2663C>T (ZNF276) | ||
| NR_110126.2:n.2546C>T (ZNF276) | ||
| NR_110129.2:n.2580C>T (ZNF276) | ||
| NR_110128.2:n.2486C>T (ZNF276) |