ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001221 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Revel Score:
ENST00000435505
0.045
ENST00000340157 (MANE Select)
0.045
ENST00000440705
0.045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58159469G>A , CM000664.2:g.58159469G>A | GRCh38 |
| NC_000002.11:g.58386604G>A , CM000664.1:g.58386604G>A | GRCh37 |
| NC_000002.10:g.58240108G>A | NCBI36 |
| NG_007418.1:g.86911C>T , LRG_501:g.86911C>T | |
| NG_029717.2:g.256729G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.*296C>T (FANCL) | ENSP00000385021.3:n.*296C>T | |
| ENST00000403295.8:c.*296C>T (FANCL) | ENSP00000386097.3:n.*296C>T | |
| ENST00000403676.6:c.*987C>T (FANCL) | ENSP00000384046.2:n.*987C>T | |
| ENST00000417361.2:c.*1002C>T (FANCL) | ENSP00000389448.2:n.*1002C>T | |
| ENST00000427708.7:c.*296C>T (FANCL) | ENSP00000400969.3:n.*296C>T | |
| ENST00000446381.6:c.*296C>T (FANCL) | ENSP00000390991.2:n.*296C>T | |
| ENST00000449070.6:c.*296C>T (FANCL) | ENSP00000401280.2:n.*296C>T | |
| ENST00000470506.2:n.1938C>T (FANCL) | ||
| ENST00000696305.1:c.*296C>T (FANCL) | ENSP00000512543.1:n.*296C>T | |
| ENST00000696306.1:c.*1314C>T (FANCL) | ENSP00000512544.1:n.*1314C>T | |
| ENST00000696314.1:c.*477C>T (FANCL) | ENSP00000512552.1:n.*477C>T | |
| ENST00000696315.1:c.*1294C>T (FANCL) | ENSP00000512553.1:n.*1294C>T | |
| ENST00000696316.1:c.*296C>T (FANCL) | ENSP00000512554.1:n.*296C>T | |
| ENST00000696317.1:c.*397C>T (FANCL) | ENSP00000512555.1:n.*397C>T | |
| ENST00000696318.1:c.*784C>T (FANCL) | ENSP00000512556.1:n.*784C>T | |
| ENST00000696319.1:c.*296C>T (FANCL) | ENSP00000512557.1:n.*296C>T | |
| ENST00000696320.1:n.3103C>T (FANCL) | ||
| ENST00000696324.1:c.*874C>T (FANCL) | ENSP00000512561.1:n.*874C>T | |
| ENST00000696325.1:n.4507C>T (FANCL) | ||
| ENST00000696326.1:c.*296C>T (FANCL) | ENSP00000512562.1:n.*296C>T | |
| ENST00000696338.1:n.1538C>T (FANCL) | ||
| ENST00000696339.1:n.3303C>T (FANCL) | ||
| ENST00000696340.1:n.3650C>T (FANCL) | ||
| ENST00000696341.1:n.1932C>T (FANCL) | ||
| ENST00000696342.1:c.*2961C>T (FANCL) | ENSP00000512569.1:n.*2961C>T | |
| ENST00000696343.1:n.3590C>T (FANCL) | ||
| ENST00000696344.1:c.*1138C>T (FANCL) | ENSP00000512570.1:n.*1138C>T | |
| ENST00000696358.1:n.4097C>T (FANCL) | ||
| ENST00000696359.1:n.4081C>T (FANCL) | ||
| ENST00000696360.1:n.2209C>T (FANCL) | ||
| ENST00000696361.1:c.*1427C>T (FANCL) | ENSP00000512579.1:n.*1427C>T | |
| ENST00000696362.1:c.*874C>T (FANCL) | ENSP00000512580.1:n.*874C>T | |
| ENST00000696364.1:n.1817C>T (FANCL) | ||
| ENST00000696371.1:c.*296C>T (FANCL) | ENSP00000512586.1:n.*296C>T | |
| ENST00000696372.1:n.2513C>T (FANCL) | ||
| ENST00000696373.1:c.*2654C>T (FANCL) | ENSP00000512587.1:n.*2654C>T | |
| ENST00000696374.1:c.*792C>T (FANCL) | ENSP00000512588.1:n.*792C>T | |
| ENST00000696375.1:n.8357C>T (FANCL) | ||
| ENST00000696376.1:n.7210C>T (FANCL) | ||
| ENST00000696378.1:c.*1442C>T (FANCL) | ENSP00000512589.1:n.*1442C>T | |
| ENST00000696394.1:n.4926C>T (FANCL) | ||
| ENST00000696395.1:n.4865C>T (FANCL) | ||
| ENST00000696396.1:n.2578C>T (FANCL) | ||
| ENST00000696397.1:n.3856C>T (FANCL) | ||
| ENST00000696398.1:c.*571C>T (FANCL) | ENSP00000512604.1:n.*571C>T | |
| ENST00000696399.1:n.2698C>T (FANCL) | ||
| ENST00000696400.1:c.*1188C>T (FANCL) | ENSP00000512605.1:n.*1188C>T | |
| ENST00000696409.1:c.*941C>T (FANCL) | ENSP00000512610.1:n.*941C>T | |
| ENST00000696410.1:c.*905C>T (FANCL) | ENSP00000512611.1:n.*905C>T | |
| ENST00000696411.1:n.1129C>T (FANCL) | ||
| ENST00000696412.1:n.1923C>T (FANCL) | ||
| ENST00000696432.1:n.3883C>T (FANCL) | ||
| ENST00000696433.1:c.*477C>T (FANCL) | ENSP00000512627.1:n.*477C>T | |
| ENST00000696434.1:c.*296C>T (FANCL) | ENSP00000512628.1:n.*296C>T | |
| ENST00000696435.1:c.*571C>T (FANCL) | ENSP00000512629.1:n.*571C>T | |
| ENST00000696454.1:c.*775C>T (FANCL) | ENSP00000512641.1:n.*775C>T | |
| ENST00000696455.1:c.*477C>T (FANCL) | ENSP00000512642.1:n.*477C>T | |
| ENST00000696467.1:c.*920C>T (FANCL) | ENSP00000512648.1:n.*920C>T | |
| ENST00000696468.1:c.*916C>T (FANCL) | ENSP00000512649.1:n.*916C>T | |
| ENST00000696469.1:c.*571C>T (FANCL) | ENSP00000512650.1:n.*571C>T | |
| ENST00000696475.1:n.2932C>T (FANCL) | ||
| ENST00000696492.1:c.*1089C>T (FANCL) | ENSP00000512662.1:n.*1089C>T | |
| ENST00000696493.1:c.*1272C>T (FANCL) | ENSP00000512663.1:n.*1272C>T | |
| ENST00000696497.1:n.4721C>T (FANCL) | ||
| ENST00000696499.1:c.*861C>T (FANCL) | ENSP00000512665.1:n.*861C>T | |
| ENST00000696508.1:c.*979C>T (FANCL) | ENSP00000512674.1:n.*979C>T | |
| ENST00000696510.1:c.*296C>T (FANCL) | ENSP00000512676.1:n.*296C>T | |
| ENST00000696527.1:c.*784C>T (FANCL) | ENSP00000512690.1:n.*784C>T | |
| ENST00000696528.1:c.*477C>T (FANCL) | ENSP00000512691.1:n.*477C>T | |
| ENST00000696542.1:n.1362C>T (FANCL) | ||
| ENST00000696543.1:c.*477C>T (FANCL) | ENSP00000512703.1:n.*477C>T | |
| ENST00000696544.1:c.*477C>T (FANCL) | ENSP00000512704.1:n.*477C>T | |
| ENST00000696545.1:c.*1092C>T (FANCL) | ENSP00000512705.1:n.*1092C>T | |
| ENST00000696546.1:c.*1203C>T (FANCL) | ENSP00000512706.1:n.*1203C>T | |
| ENST00000696547.1:c.*296C>T (FANCL) | ENSP00000512707.1:n.*296C>T | |
| ENST00000696548.1:c.*1628C>T (FANCL) | ENSP00000512708.1:n.*1628C>T | |
| ENST00000696564.1:c.*477C>T (FANCL) | ENSP00000512722.1:n.*477C>T | |
| ENST00000696565.1:c.*477C>T (FANCL) | ENSP00000512723.1:n.*477C>T | |
| ENST00000696566.1:n.4012C>T (FANCL) | ||
| ENST00000696567.1:c.*296C>T (FANCL) | ENSP00000512724.1:n.*296C>T | |
| ENST00000696568.1:n.850C>T (FANCL) | ||
| ENST00000696619.1:n.2980C>T (FANCL) | ||
| ENST00000696620.1:c.*296C>T (FANCL) | ENSP00000512759.1:n.*296C>T | |
| ENST00000696621.1:c.*571C>T (FANCL) | ENSP00000512760.1:n.*571C>T | |
| ENST00000696622.1:n.3155C>T (FANCL) | ||
| ENST00000696623.1:n.1390C>T (FANCL) | ||
| ENST00000696624.1:c.*296C>T (FANCL) | ENSP00000512761.1:n.*296C>T | |
| ENST00000696625.1:c.*874C>T (FANCL) | ENSP00000512762.1:n.*874C>T | |
| ENST00000696634.1:c.1137C>T (FANCL) | ENSP00000512770.1:n.1137C>T | |
| ENST00000696635.1:c.*296C>T (FANCL) | ENSP00000512771.1:n.*296C>T | |
| ENST00000696636.1:n.4183C>T (FANCL) | ||
| ENST00000696637.1:n.8497C>T (FANCL) | ||
| ENST00000696638.1:n.1439C>T (FANCL) | ||
| ENST00000696639.1:n.3809C>T (FANCL) | ||
| ENST00000233741.9:c.*296C>T (FANCL) MANE Select | ENSP00000233741.5:n.*296C>T | |
| ENST00000340157.9:c.1303G>A (VRK2) MANE Select | ENSP00000342381.4:p.Asp435Asn | |
| ENST00000648897.1:c.*153G>A (VRK2) | ENSP00000497378.1:n.*153G>A | |
| ENST00000233741.8:c.*296C>T (FANCL) | ENSP00000233741.4:n.*296C>T | |
| ENST00000340157.8:c.1303G>A (VRK2) | ENSP00000342381.4:p.Asp435Asn | |
| ENST00000402135.7:c.*296C>T (FANCL) | ENSP00000385021.3:n.*296C>T | |
| ENST00000403295.7:c.*296C>T (FANCL) | ENSP00000386097.3:n.*296C>T | |
| ENST00000412104.6:c.949G>A (VRK2) | ENSP00000404156.3:p.Asp317Asn | |
| ENST00000417641.6:c.*161G>A (VRK2) | ENSP00000402375.2:n.*161G>A | |
| ENST00000432057.2:c.*1260G>A (VRK2) | ENSP00000400006.1:n.*1260G>A | |
| ENST00000435505.6:c.1303G>A (VRK2) | ENSP00000408002.2:p.Asp435Asn | |
| ENST00000440705.6:c.1234G>A (VRK2) | ENSP00000398323.2:p.Asp412Asn | |
| NM_001114636.1:c.*296C>T , LRG_501t1:c.*296C>T (FANCL) | NP_001108108.1:n.*296C>T | |
| NM_001130480.2:c.1303G>A (VRK2) | NP_001123952.1:p.Asp435Asn | |
| NM_001130481.2:c.1303G>A (VRK2) | NP_001123953.1:p.Asp435Asn | |
| NM_001130482.2:c.1234G>A (VRK2) | NP_001123954.1:p.Asp412Asn | |
| NM_001130483.2:c.*161G>A (VRK2) | NP_001123955.1:n.*161G>A | |
| NM_001288836.1:c.949G>A (VRK2) | NP_001275765.1:p.Asp317Asn | |
| NM_001288837.1:c.1303G>A (VRK2) | NP_001275766.1:p.Asp435Asn | |
| NM_001288838.1:c.*161G>A (VRK2) | NP_001275767.1:n.*161G>A | |
| NM_001288839.1:c.949G>A (VRK2) | NP_001275768.1:p.Asp317Asn | |
| NM_006296.6:c.1303G>A (VRK2) | NP_006287.2:p.Asp435Asn | |
| NM_018062.3:c.*296C>T , LRG_501t2:c.*296C>T (FANCL) | NP_060532.2:n.*296C>T | |
| XM_005264397.3:c.*296C>T (FANCL) | XP_005264454.1:n.*296C>T | |
| XM_005264540.3:c.1303G>A (VRK2) | XP_005264597.1:p.Asp435Asn | |
| XM_005264541.2:c.949G>A (VRK2) | XP_005264598.1:p.Asp317Asn | |
| XM_006712090.2:c.*153G>A (VRK2) | XP_006712153.1:n.*153G>A | |
| XM_006712091.2:c.*161G>A (VRK2) | XP_006712154.1:n.*161G>A | |
| XM_006712092.2:c.949G>A (VRK2) | XP_006712155.1:p.Asp317Asn | |
| XM_006712093.2:c.949G>A (VRK2) | XP_006712156.1:p.Asp317Asn | |
| XM_011532941.1:c.*296C>T (FANCL) | XP_011531243.1:n.*296C>T | |
| XM_011533092.1:c.1303G>A (VRK2) | XP_011531394.1:p.Asp435Asn | |
| XM_011533093.1:c.949G>A (VRK2) | XP_011531395.1:p.Asp317Asn | |
| XM_011533094.1:c.949G>A (VRK2) | XP_011531396.1:p.Asp317Asn | |
| XR_939692.1:n.1423C>T (FANCL) | ||
| NR_156742.1:n.1213C>T (FANCL) | ||
| XM_005264395.4:c.*579C>T (FANCL) | XP_005264452.1:n.*579C>T | |
| XM_005264540.4:c.1303G>A (VRK2) | XP_005264597.1:p.Asp435Asn | |
| XM_006712090.4:c.*153G>A (VRK2) | XP_006712153.1:n.*153G>A | |
| XM_006712091.4:c.*161G>A (VRK2) | XP_006712154.1:n.*161G>A | |
| XM_006712092.4:c.949G>A (VRK2) | XP_006712155.1:p.Asp317Asn | |
| XM_006712093.4:c.949G>A (VRK2) | XP_006712156.1:p.Asp317Asn | |
| XM_011532939.3:c.*579C>T (FANCL) | XP_011531241.1:n.*579C>T | |
| XM_011532940.3:c.*579C>T (FANCL) | XP_011531242.1:n.*579C>T | |
| XM_011532941.2:c.*296C>T (FANCL) | XP_011531243.1:n.*296C>T | |
| XM_011532942.3:c.*579C>T (FANCL) | XP_011531244.1:n.*579C>T | |
| XM_011532944.2:c.*579C>T (FANCL) | XP_011531246.1:n.*579C>T | |
| XM_011532945.2:c.*579C>T (FANCL) | XP_011531247.1:n.*579C>T | |
| XM_011533092.3:c.1303G>A (VRK2) | XP_011531394.1:p.Asp435Asn | |
| XM_017004414.2:c.*296C>T (FANCL) | XP_016859903.1:n.*296C>T | |
| XM_017004416.1:c.*579C>T (FANCL) | XP_016859905.1:n.*579C>T | |
| XM_017004858.2:c.*153G>A (VRK2) | XP_016860347.1:n.*153G>A | |
| XM_017004859.2:c.949G>A (VRK2) | XP_016860348.1:p.Asp317Asn | |
| XM_017004860.2:c.949G>A (VRK2) | XP_016860349.1:p.Asp317Asn | |
| XM_017004861.2:c.949G>A (VRK2) | XP_016860350.1:p.Asp317Asn | |
| XM_017004862.2:c.949G>A (VRK2) | XP_016860351.1:p.Asp317Asn | |
| XM_017004863.2:c.949G>A (VRK2) | XP_016860352.1:p.Asp317Asn | |
| XM_017004864.2:c.*153G>A (VRK2) | XP_016860353.1:n.*153G>A | |
| XM_017004865.1:c.*161G>A (VRK2) | XP_016860354.1:n.*161G>A | |
| XM_017004866.1:c.*161G>A (VRK2) | XP_016860355.1:n.*161G>A | |
| XR_001738802.2:n.1370C>T (FANCL) | ||
| XR_001738803.2:n.1355C>T (FANCL) | ||
| XR_002959309.1:n.2066C>T (FANCL) | ||
| XR_939692.2:n.1415C>T (FANCL) | ||
| NM_001374615.1:c.*296C>T (FANCL) | NP_001361544.1:n.*296C>T | |
| NM_018062.4:c.*296C>T (FANCL) MANE Select | NP_060532.2:n.*296C>T | |
| NR_164659.1:n.1305C>T (FANCL) | ||
| NM_001288837.2:c.1303G>A (VRK2) | NP_001275766.1:p.Asp435Asn | |
| NM_001288838.2:c.*161G>A (VRK2) | NP_001275767.1:n.*161G>A | |
| NM_001288839.2:c.949G>A (VRK2) | NP_001275768.1:p.Asp317Asn | |
| NM_006296.7:c.1303G>A (VRK2) MANE Select | NP_006287.2:p.Asp435Asn |