Linked Data
ClinVar Variation Id:
414859
dbSNP Id:
rs377052216
ExAC:
2:58387320 A / G
gnomAD v2:
2-58387320-A-G
gnomAD v3:
2-58160185-A-G
gnomAD v4:
2-58160185-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58160185A>G , CM000664.2:g.58160185A>G | GRCh38 |
| NC_000002.11:g.58387320A>G , CM000664.1:g.58387320A>G | GRCh37 |
| NC_000002.10:g.58240824A>G | NCBI36 |
| NG_007418.1:g.86195T>C , LRG_501:g.86195T>C | |
| NG_029717.2:g.257445A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402135.8:c.1036-6T>C (FANCL) | ENSP00000385021.3:n.1036-6T>C | |
| ENST00000403295.8:c.937-6T>C (FANCL) | ENSP00000386097.3:n.937-6T>C | |
| ENST00000403676.6:c.*584-6T>C (FANCL) | ENSP00000384046.2:n.*584-6T>C | |
| ENST00000417361.2:c.*599-6T>C (FANCL) | ENSP00000389448.2:n.*599-6T>C | |
| ENST00000427708.7:c.1066-6T>C (FANCL) | ENSP00000400969.3:n.1066-6T>C | |
| ENST00000446381.6:c.577-6T>C (FANCL) | ENSP00000390991.2:n.577-6T>C | |
| ENST00000449070.6:c.844-6T>C (FANCL) | ENSP00000401280.2:n.844-6T>C | |
| ENST00000470506.2:n.1535-6T>C (FANCL) | ||
| ENST00000696305.1:c.964-6T>C (FANCL) | ENSP00000512543.1:n.964-6T>C | |
| ENST00000696306.1:c.*911-6T>C (FANCL) | ENSP00000512544.1:n.*911-6T>C | |
| ENST00000696307.1:c.1006-6T>C (FANCL) | ENSP00000512545.1:n.1006-6T>C | |
| ENST00000696314.1:c.*74-6T>C (FANCL) | ENSP00000512552.1:n.*74-6T>C | |
| ENST00000696315.1:c.*584-6T>C (FANCL) | ENSP00000512553.1:n.*584-6T>C | |
| ENST00000696316.1:c.904-6T>C (FANCL) | ENSP00000512554.1:n.904-6T>C | |
| ENST00000696317.1:c.939-6T>C (FANCL) | ENSP00000512555.1:n.939-6T>C | |
| ENST00000696318.1:c.*74-6T>C (FANCL) | ENSP00000512556.1:n.*74-6T>C | |
| ENST00000696319.1:c.979-6T>C (FANCL) | ENSP00000512557.1:n.979-6T>C | |
| ENST00000696320.1:n.2700-6T>C (FANCL) | ||
| ENST00000696324.1:c.*471-6T>C (FANCL) | ENSP00000512561.1:n.*471-6T>C | |
| ENST00000696325.1:n.4104-6T>C (FANCL) | ||
| ENST00000696326.1:c.1081-6T>C (FANCL) | ENSP00000512562.1:n.1081-6T>C | |
| ENST00000696338.1:n.1135-6T>C (FANCL) | ||
| ENST00000696339.1:n.2593-6T>C (FANCL) | ||
| ENST00000696340.1:n.3247-6T>C (FANCL) | ||
| ENST00000696341.1:n.1529-6T>C (FANCL) | ||
| ENST00000696342.1:c.*2251-6T>C (FANCL) | ENSP00000512569.1:n.*2251-6T>C | |
| ENST00000696343.1:n.2880-6T>C (FANCL) | ||
| ENST00000696344.1:c.*735-6T>C (FANCL) | ENSP00000512570.1:n.*735-6T>C | |
| ENST00000696358.1:n.3694-6T>C (FANCL) | ||
| ENST00000696359.1:n.3371-6T>C (FANCL) | ||
| ENST00000696360.1:n.1806-6T>C (FANCL) | ||
| ENST00000696361.1:c.*1024-6T>C (FANCL) | ENSP00000512579.1:n.*1024-6T>C | |
| ENST00000696362.1:c.*471-6T>C (FANCL) | ENSP00000512580.1:n.*471-6T>C | |
| ENST00000696363.1:n.2798-6T>C (FANCL) | ||
| ENST00000696364.1:n.1414-6T>C (FANCL) | ||
| ENST00000696371.1:c.1012-6T>C (FANCL) | ENSP00000512586.1:n.1012-6T>C | |
| ENST00000696372.1:n.2110-6T>C (FANCL) | ||
| ENST00000696373.1:c.*2251-6T>C (FANCL) | ENSP00000512587.1:n.*2251-6T>C | |
| ENST00000696374.1:c.*389-6T>C (FANCL) | ENSP00000512588.1:n.*389-6T>C | |
| ENST00000696375.1:n.7954-6T>C (FANCL) | ||
| ENST00000696376.1:n.6807-6T>C (FANCL) | ||
| ENST00000696378.1:c.*1039-6T>C (FANCL) | ENSP00000512589.1:n.*1039-6T>C | |
| ENST00000696394.1:n.4523-6T>C (FANCL) | ||
| ENST00000696395.1:n.4462-6T>C (FANCL) | ||
| ENST00000696396.1:n.2175-6T>C (FANCL) | ||
| ENST00000696397.1:n.3146-6T>C (FANCL) | ||
| ENST00000696398.1:c.*168-6T>C (FANCL) | ENSP00000512604.1:n.*168-6T>C | |
| ENST00000696399.1:n.2295-6T>C (FANCL) | ||
| ENST00000696400.1:c.*785-6T>C (FANCL) | ENSP00000512605.1:n.*785-6T>C | |
| ENST00000696409.1:c.*538-6T>C (FANCL) | ENSP00000512610.1:n.*538-6T>C | |
| ENST00000696410.1:c.*502-6T>C (FANCL) | ENSP00000512611.1:n.*502-6T>C | |
| ENST00000696411.1:n.726-6T>C (FANCL) | ||
| ENST00000696412.1:n.1520-6T>C (FANCL) | ||
| ENST00000696413.1:n.1023-6T>C (FANCL) | ||
| ENST00000696414.1:n.2067-6T>C (FANCL) | ||
| ENST00000696415.1:c.954-6T>C (FANCL) | ENSP00000512612.1:n.954-6T>C | |
| ENST00000696416.1:n.1029-6T>C (FANCL) | ||
| ENST00000696432.1:n.3480-6T>C (FANCL) | ||
| ENST00000696433.1:c.*74-6T>C (FANCL) | ENSP00000512627.1:n.*74-6T>C | |
| ENST00000696434.1:c.859-6T>C (FANCL) | ENSP00000512628.1:n.859-6T>C | |
| ENST00000696435.1:c.*168-6T>C (FANCL) | ENSP00000512629.1:n.*168-6T>C | |
| ENST00000696436.1:n.975-6T>C (FANCL) | ||
| ENST00000696437.1:n.1438-6T>C (FANCL) | ||
| ENST00000696438.1:c.*854-6T>C (FANCL) | ENSP00000512630.1:n.*854-6T>C | |
| ENST00000696439.1:n.3070-6T>C (FANCL) | ||
| ENST00000696440.1:n.2057-6T>C (FANCL) | ||
| ENST00000696454.1:c.*372-6T>C (FANCL) | ENSP00000512641.1:n.*372-6T>C | |
| ENST00000696455.1:c.*74-6T>C (FANCL) | ENSP00000512642.1:n.*74-6T>C | |
| ENST00000696456.1:n.531-6T>C (FANCL) | ||
| ENST00000696457.1:c.*1792-6T>C (FANCL) | ENSP00000512643.1:n.*1792-6T>C | |
| ENST00000696458.1:c.882-6T>C (FANCL) | ENSP00000512644.1:n.882-6T>C | |
| ENST00000696459.1:c.*456-6T>C (FANCL) | ENSP00000512645.1:n.*456-6T>C | |
| ENST00000696460.1:n.1518-6T>C (FANCL) | ||
| ENST00000696467.1:c.*517-6T>C (FANCL) | ENSP00000512648.1:n.*517-6T>C | |
| ENST00000696468.1:c.*513-6T>C (FANCL) | ENSP00000512649.1:n.*513-6T>C | |
| ENST00000696469.1:c.*168-6T>C (FANCL) | ENSP00000512650.1:n.*168-6T>C | |
| ENST00000696470.1:n.3189-6T>C (FANCL) | ||
| ENST00000696471.1:n.691-6T>C (FANCL) | ||
| ENST00000696472.1:c.*74-6T>C (FANCL) | ENSP00000512651.1:n.*74-6T>C | |
| ENST00000696473.1:c.*704-6T>C (FANCL) | ENSP00000512652.1:n.*704-6T>C | |
| ENST00000696474.1:n.897-6T>C (FANCL) | ||
| ENST00000696475.1:n.2529-6T>C (FANCL) | ||
| ENST00000696492.1:c.*686-6T>C (FANCL) | ENSP00000512662.1:n.*686-6T>C | |
| ENST00000696493.1:c.*869-6T>C (FANCL) | ENSP00000512663.1:n.*869-6T>C | |
| ENST00000696494.1:n.1053-6T>C (FANCL) | ||
| ENST00000696495.1:c.*767-6T>C (FANCL) | ENSP00000512664.1:n.*767-6T>C | |
| ENST00000696496.1:n.1560-6T>C (FANCL) | ||
| ENST00000696497.1:n.4318-6T>C (FANCL) | ||
| ENST00000696498.1:n.1780-6T>C (FANCL) | ||
| ENST00000696499.1:c.*458-6T>C (FANCL) | ENSP00000512665.1:n.*458-6T>C | |
| ENST00000696508.1:c.*576-6T>C (FANCL) | ENSP00000512674.1:n.*576-6T>C | |
| ENST00000696509.1:c.*898-6T>C (FANCL) | ENSP00000512675.1:n.*898-6T>C | |
| ENST00000696510.1:c.493-6T>C (FANCL) | ENSP00000512676.1:n.493-6T>C | |
| ENST00000696527.1:c.*74-6T>C (FANCL) | ENSP00000512690.1:n.*74-6T>C | |
| ENST00000696528.1:c.*74-6T>C (FANCL) | ENSP00000512691.1:n.*74-6T>C | |
| ENST00000696529.1:n.884-6T>C (FANCL) | ||
| ENST00000696530.1:c.817-6T>C (FANCL) | ENSP00000512692.1:n.817-6T>C | |
| ENST00000696531.1:c.*553-6T>C (FANCL) | ENSP00000512693.1:n.*553-6T>C | |
| ENST00000696532.1:n.2168-6T>C (FANCL) | ||
| ENST00000696542.1:n.959-6T>C (FANCL) | ||
| ENST00000696543.1:c.*74-6T>C (FANCL) | ENSP00000512703.1:n.*74-6T>C | |
| ENST00000696544.1:c.*74-6T>C (FANCL) | ENSP00000512704.1:n.*74-6T>C | |
| ENST00000696545.1:c.*689-6T>C (FANCL) | ENSP00000512705.1:n.*689-6T>C | |
| ENST00000696546.1:c.*800-6T>C (FANCL) | ENSP00000512706.1:n.*800-6T>C | |
| ENST00000696547.1:c.1009-6T>C (FANCL) | ENSP00000512707.1:n.1009-6T>C | |
| ENST00000696548.1:c.*1225-6T>C (FANCL) | ENSP00000512708.1:n.*1225-6T>C | |
| ENST00000696564.1:c.*74-6T>C (FANCL) | ENSP00000512722.1:n.*74-6T>C | |
| ENST00000696565.1:c.*74-6T>C (FANCL) | ENSP00000512723.1:n.*74-6T>C | |
| ENST00000696566.1:n.3609-6T>C (FANCL) | ||
| ENST00000696567.1:c.916-6T>C (FANCL) | ENSP00000512724.1:n.916-6T>C | |
| ENST00000696568.1:n.441T>C (FANCL) | ||
| ENST00000696569.1:n.1130-6T>C (FANCL) | ||
| ENST00000696570.1:c.*343-6T>C (FANCL) | ENSP00000512725.1:n.*343-6T>C | |
| ENST00000696619.1:n.2577-6T>C (FANCL) | ||
| ENST00000696620.1:c.613-6T>C (FANCL) | ENSP00000512759.1:n.613-6T>C | |
| ENST00000696621.1:c.*168-6T>C (FANCL) | ENSP00000512760.1:n.*168-6T>C | |
| ENST00000696622.1:n.2752-6T>C (FANCL) | ||
| ENST00000696623.1:n.987-6T>C (FANCL) | ||
| ENST00000696624.1:c.952-6T>C (FANCL) | ENSP00000512761.1:n.952-6T>C | |
| ENST00000696625.1:c.*471-6T>C (FANCL) | ENSP00000512762.1:n.*471-6T>C | |
| ENST00000696634.1:c.734-6T>C (FANCL) | ENSP00000512770.1:n.734-6T>C | |
| ENST00000696635.1:c.997-6T>C (FANCL) | ENSP00000512771.1:n.997-6T>C | |
| ENST00000696636.1:n.3473-6T>C (FANCL) | ||
| ENST00000696637.1:n.8094-6T>C (FANCL) | ||
| ENST00000696638.1:n.1036-6T>C (FANCL) | ||
| ENST00000696639.1:n.3099-6T>C (FANCL) | ||
| ENST00000233741.9:c.1021-6T>C (FANCL) MANE Select | ENSP00000233741.5:n.1021-6T>C | |
| ENST00000233741.8:c.1021-6T>C (FANCL) | ENSP00000233741.4:n.1021-6T>C | |
| ENST00000402135.7:c.1036-6T>C (FANCL) | ENSP00000385021.3:n.1036-6T>C | |
| ENST00000403295.7:c.937-6T>C (FANCL) | ENSP00000386097.3:n.937-6T>C | |
| ENST00000403676.5:c.670-6T>C (FANCL) | ENSP00000384046.1:n.670-6T>C | |
| ENST00000449070.5:c.844-6T>C (FANCL) | ENSP00000401280.1:n.844-6T>C | |
| NM_001114636.1:c.1036-6T>C , LRG_501t1:c.1036-6T>C (FANCL) | NP_001108108.1:n.1036-6T>C | |
| NM_018062.3:c.1021-6T>C , LRG_501t2:c.1021-6T>C (FANCL) | NP_060532.2:n.1021-6T>C | |
| XM_005264395.2:c.1021-6T>C (FANCL) | XP_005264452.1:n.1021-6T>C | |
| XM_005264397.3:c.670-6T>C (FANCL) | XP_005264454.1:n.670-6T>C | |
| XM_011532939.1:c.1081-6T>C (FANCL) | XP_011531241.1:n.1081-6T>C | |
| XM_011532940.1:c.1066-6T>C (FANCL) | XP_011531242.1:n.1066-6T>C | |
| XM_011532941.1:c.1081-6T>C (FANCL) | XP_011531243.1:n.1081-6T>C | |
| XM_011532942.1:c.1036-6T>C (FANCL) | XP_011531244.1:n.1036-6T>C | |
| XM_011532943.1:c.1282-6T>C (FANCL) | XP_011531245.1:n.1282-6T>C | |
| XM_011532944.1:c.730-6T>C (FANCL) | XP_011531246.1:n.730-6T>C | |
| XM_011532945.1:c.685-6T>C (FANCL) | XP_011531247.1:n.685-6T>C | |
| XR_939692.1:n.1020-6T>C (FANCL) | ||
| NR_156742.1:n.810-6T>C (FANCL) | ||
| XM_005264395.4:c.1021-6T>C (FANCL) | XP_005264452.1:n.1021-6T>C | |
| XM_005264540.4:c.*492A>G (VRK2) | XP_005264597.1:n.*492A>G | |
| XM_006712090.4:c.*869A>G (VRK2) | XP_006712153.1:n.*869A>G | |
| XM_006712092.4:c.*492A>G (VRK2) | XP_006712155.1:n.*492A>G | |
| XM_006712093.4:c.*492A>G (VRK2) | XP_006712156.1:n.*492A>G | |
| XM_011532939.3:c.1081-6T>C (FANCL) | XP_011531241.1:n.1081-6T>C | |
| XM_011532940.3:c.1066-6T>C (FANCL) | XP_011531242.1:n.1066-6T>C | |
| XM_011532941.2:c.1081-6T>C (FANCL) | XP_011531243.1:n.1081-6T>C | |
| XM_011532942.3:c.1036-6T>C (FANCL) | XP_011531244.1:n.1036-6T>C | |
| XM_011532944.2:c.730-6T>C (FANCL) | XP_011531246.1:n.730-6T>C | |
| XM_011532945.2:c.685-6T>C (FANCL) | XP_011531247.1:n.685-6T>C | |
| XM_011533092.3:c.*492A>G (VRK2) | XP_011531394.1:n.*492A>G | |
| XM_017004414.2:c.1066-6T>C (FANCL) | XP_016859903.1:n.1066-6T>C | |
| XM_017004416.1:c.670-6T>C (FANCL) | XP_016859905.1:n.670-6T>C | |
| XM_017004858.2:c.*869A>G (VRK2) | XP_016860347.1:n.*869A>G | |
| XM_017004859.2:c.*492A>G (VRK2) | XP_016860348.1:n.*492A>G | |
| XM_017004860.2:c.*492A>G (VRK2) | XP_016860349.1:n.*492A>G | |
| XM_017004861.2:c.*492A>G (VRK2) | XP_016860350.1:n.*492A>G | |
| XM_017004862.2:c.*492A>G (VRK2) | XP_016860351.1:n.*492A>G | |
| XM_017004863.2:c.*492A>G (VRK2) | XP_016860352.1:n.*492A>G | |
| XM_017004864.2:c.*869A>G (VRK2) | XP_016860353.1:n.*869A>G | |
| XM_017004865.1:c.*877A>G (VRK2) | XP_016860354.1:n.*877A>G | |
| XM_017004866.1:c.*877A>G (VRK2) | XP_016860355.1:n.*877A>G | |
| XR_001738802.2:n.967-6T>C (FANCL) | ||
| XR_001738803.2:n.952-6T>C (FANCL) | ||
| XR_002959309.1:n.1663-6T>C (FANCL) | ||
| XR_939692.2:n.1012-6T>C (FANCL) | ||
| NM_001374615.1:c.1066-6T>C (FANCL) | NP_001361544.1:n.1066-6T>C | |
| NM_018062.4:c.1021-6T>C (FANCL) MANE Select | NP_060532.2:n.1021-6T>C | |
| NR_164659.1:n.902-6T>C (FANCL) |