SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58160166A>C , CM000664.2:g.58160166A>C | GRCh38 |
| NC_000002.11:g.58387301A>C , CM000664.1:g.58387301A>C | GRCh37 |
| NC_000002.10:g.58240805A>C | NCBI36 |
| NG_007418.1:g.86214T>G , LRG_501:g.86214T>G | |
| NG_029717.2:g.257426A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1049T>G (FANCL) | ENSP00000385021.3:p.Leu350Arg | |
| ENST00000403295.8:c.950T>G (FANCL) | ENSP00000386097.3:p.Leu317Arg | |
| ENST00000403676.6:c.*597T>G (FANCL) | ENSP00000384046.2:n.*597T>G | |
| ENST00000417361.2:c.*612T>G (FANCL) | ENSP00000389448.2:n.*612T>G | |
| ENST00000427708.7:c.1079T>G (FANCL) | ENSP00000400969.3:p.Leu360Arg | |
| ENST00000446381.6:c.590T>G (FANCL) | ENSP00000390991.2:p.Leu197Arg | |
| ENST00000449070.6:c.857T>G (FANCL) | ENSP00000401280.2:p.Leu286Arg | |
| ENST00000470506.2:n.1548T>G (FANCL) | ||
| ENST00000696305.1:c.977T>G (FANCL) | ENSP00000512543.1:p.Leu326Arg | |
| ENST00000696306.1:c.*924T>G (FANCL) | ENSP00000512544.1:n.*924T>G | |
| ENST00000696307.1:c.1019T>G (FANCL) | ENSP00000512545.1:p.Leu340Arg | |
| ENST00000696314.1:c.*87T>G (FANCL) | ENSP00000512552.1:n.*87T>G | |
| ENST00000696315.1:c.*597T>G (FANCL) | ENSP00000512553.1:n.*597T>G | |
| ENST00000696316.1:c.917T>G (FANCL) | ENSP00000512554.1:p.Leu306Arg | |
| ENST00000696317.1:c.*7T>G (FANCL) | ENSP00000512555.1:n.*7T>G | |
| ENST00000696318.1:c.*87T>G (FANCL) | ENSP00000512556.1:n.*87T>G | |
| ENST00000696319.1:c.992T>G (FANCL) | ENSP00000512557.1:p.Leu331Arg | |
| ENST00000696320.1:n.2713T>G (FANCL) | ||
| ENST00000696324.1:c.*484T>G (FANCL) | ENSP00000512561.1:n.*484T>G | |
| ENST00000696325.1:n.4117T>G (FANCL) | ||
| ENST00000696326.1:c.1094T>G (FANCL) | ENSP00000512562.1:p.Leu365Arg | |
| ENST00000696338.1:n.1148T>G (FANCL) | ||
| ENST00000696339.1:n.2606T>G (FANCL) | ||
| ENST00000696340.1:n.3260T>G (FANCL) | ||
| ENST00000696341.1:n.1542T>G (FANCL) | ||
| ENST00000696342.1:c.*2264T>G (FANCL) | ENSP00000512569.1:n.*2264T>G | |
| ENST00000696343.1:n.2893T>G (FANCL) | ||
| ENST00000696344.1:c.*748T>G (FANCL) | ENSP00000512570.1:n.*748T>G | |
| ENST00000696358.1:n.3707T>G (FANCL) | ||
| ENST00000696359.1:n.3384T>G (FANCL) | ||
| ENST00000696360.1:n.1819T>G (FANCL) | ||
| ENST00000696361.1:c.*1037T>G (FANCL) | ENSP00000512579.1:n.*1037T>G | |
| ENST00000696362.1:c.*484T>G (FANCL) | ENSP00000512580.1:n.*484T>G | |
| ENST00000696363.1:n.2811T>G (FANCL) | ||
| ENST00000696364.1:n.1427T>G (FANCL) | ||
| ENST00000696371.1:c.1025T>G (FANCL) | ENSP00000512586.1:p.Leu342Arg | |
| ENST00000696372.1:n.2123T>G (FANCL) | ||
| ENST00000696373.1:c.*2264T>G (FANCL) | ENSP00000512587.1:n.*2264T>G | |
| ENST00000696374.1:c.*402T>G (FANCL) | ENSP00000512588.1:n.*402T>G | |
| ENST00000696375.1:n.7967T>G (FANCL) | ||
| ENST00000696376.1:n.6820T>G (FANCL) | ||
| ENST00000696378.1:c.*1052T>G (FANCL) | ENSP00000512589.1:n.*1052T>G | |
| ENST00000696394.1:n.4536T>G (FANCL) | ||
| ENST00000696395.1:n.4475T>G (FANCL) | ||
| ENST00000696396.1:n.2188T>G (FANCL) | ||
| ENST00000696397.1:n.3159T>G (FANCL) | ||
| ENST00000696398.1:c.*181T>G (FANCL) | ENSP00000512604.1:n.*181T>G | |
| ENST00000696399.1:n.2308T>G (FANCL) | ||
| ENST00000696400.1:c.*798T>G (FANCL) | ENSP00000512605.1:n.*798T>G | |
| ENST00000696409.1:c.*551T>G (FANCL) | ENSP00000512610.1:n.*551T>G | |
| ENST00000696410.1:c.*515T>G (FANCL) | ENSP00000512611.1:n.*515T>G | |
| ENST00000696411.1:n.739T>G (FANCL) | ||
| ENST00000696412.1:n.1533T>G (FANCL) | ||
| ENST00000696413.1:n.1036T>G (FANCL) | ||
| ENST00000696414.1:n.2080T>G (FANCL) | ||
| ENST00000696415.1:c.*7T>G (FANCL) | ENSP00000512612.1:n.*7T>G | |
| ENST00000696416.1:n.1042T>G (FANCL) | ||
| ENST00000696432.1:n.3493T>G (FANCL) | ||
| ENST00000696433.1:c.*87T>G (FANCL) | ENSP00000512627.1:n.*87T>G | |
| ENST00000696434.1:c.872T>G (FANCL) | ENSP00000512628.1:p.Leu291Arg | |
| ENST00000696435.1:c.*181T>G (FANCL) | ENSP00000512629.1:n.*181T>G | |
| ENST00000696436.1:n.988T>G (FANCL) | ||
| ENST00000696437.1:n.1451T>G (FANCL) | ||
| ENST00000696438.1:c.*867T>G (FANCL) | ENSP00000512630.1:n.*867T>G | |
| ENST00000696439.1:n.3083T>G (FANCL) | ||
| ENST00000696440.1:n.2070T>G (FANCL) | ||
| ENST00000696454.1:c.*385T>G (FANCL) | ENSP00000512641.1:n.*385T>G | |
| ENST00000696455.1:c.*87T>G (FANCL) | ENSP00000512642.1:n.*87T>G | |
| ENST00000696456.1:n.544T>G (FANCL) | ||
| ENST00000696457.1:c.*1805T>G (FANCL) | ENSP00000512643.1:n.*1805T>G | |
| ENST00000696458.1:c.*7T>G (FANCL) | ENSP00000512644.1:n.*7T>G | |
| ENST00000696459.1:c.*469T>G (FANCL) | ENSP00000512645.1:n.*469T>G | |
| ENST00000696460.1:n.1531T>G (FANCL) | ||
| ENST00000696467.1:c.*530T>G (FANCL) | ENSP00000512648.1:n.*530T>G | |
| ENST00000696468.1:c.*526T>G (FANCL) | ENSP00000512649.1:n.*526T>G | |
| ENST00000696469.1:c.*181T>G (FANCL) | ENSP00000512650.1:n.*181T>G | |
| ENST00000696470.1:n.3202T>G (FANCL) | ||
| ENST00000696471.1:n.704T>G (FANCL) | ||
| ENST00000696472.1:c.*87T>G (FANCL) | ENSP00000512651.1:n.*87T>G | |
| ENST00000696473.1:c.*717T>G (FANCL) | ENSP00000512652.1:n.*717T>G | |
| ENST00000696474.1:n.910T>G (FANCL) | ||
| ENST00000696475.1:n.2542T>G (FANCL) | ||
| ENST00000696492.1:c.*699T>G (FANCL) | ENSP00000512662.1:n.*699T>G | |
| ENST00000696493.1:c.*882T>G (FANCL) | ENSP00000512663.1:n.*882T>G | |
| ENST00000696494.1:n.1066T>G (FANCL) | ||
| ENST00000696495.1:c.*780T>G (FANCL) | ENSP00000512664.1:n.*780T>G | |
| ENST00000696496.1:n.1573T>G (FANCL) | ||
| ENST00000696497.1:n.4331T>G (FANCL) | ||
| ENST00000696498.1:n.1793T>G (FANCL) | ||
| ENST00000696499.1:c.*471T>G (FANCL) | ENSP00000512665.1:n.*471T>G | |
| ENST00000696508.1:c.*589T>G (FANCL) | ENSP00000512674.1:n.*589T>G | |
| ENST00000696509.1:c.*911T>G (FANCL) | ENSP00000512675.1:n.*911T>G | |
| ENST00000696510.1:c.506T>G (FANCL) | ENSP00000512676.1:p.Leu169Arg | |
| ENST00000696527.1:c.*87T>G (FANCL) | ENSP00000512690.1:n.*87T>G | |
| ENST00000696528.1:c.*87T>G (FANCL) | ENSP00000512691.1:n.*87T>G | |
| ENST00000696529.1:n.897T>G (FANCL) | ||
| ENST00000696530.1:c.830T>G (FANCL) | ENSP00000512692.1:p.Leu277Arg | |
| ENST00000696531.1:c.*566T>G (FANCL) | ENSP00000512693.1:n.*566T>G | |
| ENST00000696532.1:n.2181T>G (FANCL) | ||
| ENST00000696542.1:n.972T>G (FANCL) | ||
| ENST00000696543.1:c.*87T>G (FANCL) | ENSP00000512703.1:n.*87T>G | |
| ENST00000696544.1:c.*87T>G (FANCL) | ENSP00000512704.1:n.*87T>G | |
| ENST00000696545.1:c.*702T>G (FANCL) | ENSP00000512705.1:n.*702T>G | |
| ENST00000696546.1:c.*813T>G (FANCL) | ENSP00000512706.1:n.*813T>G | |
| ENST00000696547.1:c.1022T>G (FANCL) | ENSP00000512707.1:p.Leu341Arg | |
| ENST00000696548.1:c.*1238T>G (FANCL) | ENSP00000512708.1:n.*1238T>G | |
| ENST00000696564.1:c.*87T>G (FANCL) | ENSP00000512722.1:n.*87T>G | |
| ENST00000696565.1:c.*87T>G (FANCL) | ENSP00000512723.1:n.*87T>G | |
| ENST00000696566.1:n.3622T>G (FANCL) | ||
| ENST00000696567.1:c.929T>G (FANCL) | ENSP00000512724.1:p.Leu310Arg | |
| ENST00000696568.1:n.460T>G (FANCL) | ||
| ENST00000696569.1:n.1143T>G (FANCL) | ||
| ENST00000696570.1:c.*356T>G (FANCL) | ENSP00000512725.1:n.*356T>G | |
| ENST00000696619.1:n.2590T>G (FANCL) | ||
| ENST00000696620.1:c.626T>G (FANCL) | ENSP00000512759.1:p.Leu209Arg | |
| ENST00000696621.1:c.*181T>G (FANCL) | ENSP00000512760.1:n.*181T>G | |
| ENST00000696622.1:n.2765T>G (FANCL) | ||
| ENST00000696623.1:n.1000T>G (FANCL) | ||
| ENST00000696624.1:c.965T>G (FANCL) | ENSP00000512761.1:p.Leu322Arg | |
| ENST00000696625.1:c.*484T>G (FANCL) | ENSP00000512762.1:n.*484T>G | |
| ENST00000696634.1:c.747T>G (FANCL) | ENSP00000512770.1:n.747T>G | |
| ENST00000696635.1:c.1010T>G (FANCL) | ENSP00000512771.1:p.Leu337Arg | |
| ENST00000696636.1:n.3486T>G (FANCL) | ||
| ENST00000696637.1:n.8107T>G (FANCL) | ||
| ENST00000696638.1:n.1049T>G (FANCL) | ||
| ENST00000696639.1:n.3112T>G (FANCL) | ||
| ENST00000233741.9:c.1034T>G (FANCL) MANE Select | ENSP00000233741.5:p.Leu345Arg | |
| ENST00000233741.8:c.1034T>G (FANCL) | ENSP00000233741.4:p.Leu345Arg | |
| ENST00000402135.7:c.1049T>G (FANCL) | ENSP00000385021.3:p.Leu350Arg | |
| ENST00000403295.7:c.950T>G (FANCL) | ENSP00000386097.3:p.Leu317Arg | |
| ENST00000403676.5:c.683T>G (FANCL) | ENSP00000384046.1:p.Leu228Arg | |
| ENST00000449070.5:c.857T>G (FANCL) | ENSP00000401280.1:p.Leu286Arg | |
| NM_001114636.1:c.1049T>G , LRG_501t1:c.1049T>G (FANCL) | NP_001108108.1:p.Leu350Arg | |
| NM_018062.3:c.1034T>G , LRG_501t2:c.1034T>G (FANCL) | NP_060532.2:p.Leu345Arg | |
| XM_005264395.2:c.1034T>G (FANCL) | XP_005264452.1:p.Leu345Arg | |
| XM_005264397.3:c.683T>G (FANCL) | XP_005264454.1:p.Leu228Arg | |
| XM_011532939.1:c.1094T>G (FANCL) | XP_011531241.1:p.Leu365Arg | |
| XM_011532940.1:c.1079T>G (FANCL) | XP_011531242.1:p.Leu360Arg | |
| XM_011532941.1:c.1094T>G (FANCL) | XP_011531243.1:p.Leu365Arg | |
| XM_011532942.1:c.1049T>G (FANCL) | XP_011531244.1:p.Leu350Arg | |
| XM_011532943.1:c.1295T>G (FANCL) | XP_011531245.1:p.Leu432Arg | |
| XM_011532944.1:c.743T>G (FANCL) | XP_011531246.1:p.Leu248Arg | |
| XM_011532945.1:c.698T>G (FANCL) | XP_011531247.1:p.Leu233Arg | |
| XR_939692.1:n.1033T>G (FANCL) | ||
| NR_156742.1:n.823T>G (FANCL) | ||
| XM_005264395.4:c.1034T>G (FANCL) | XP_005264452.1:p.Leu345Arg | |
| XM_005264540.4:c.*473A>C (VRK2) | XP_005264597.1:n.*473A>C | |
| XM_006712090.4:c.*850A>C (VRK2) | XP_006712153.1:n.*850A>C | |
| XM_006712092.4:c.*473A>C (VRK2) | XP_006712155.1:n.*473A>C | |
| XM_006712093.4:c.*473A>C (VRK2) | XP_006712156.1:n.*473A>C | |
| XM_011532939.3:c.1094T>G (FANCL) | XP_011531241.1:p.Leu365Arg | |
| XM_011532940.3:c.1079T>G (FANCL) | XP_011531242.1:p.Leu360Arg | |
| XM_011532941.2:c.1094T>G (FANCL) | XP_011531243.1:p.Leu365Arg | |
| XM_011532942.3:c.1049T>G (FANCL) | XP_011531244.1:p.Leu350Arg | |
| XM_011532944.2:c.743T>G (FANCL) | XP_011531246.1:p.Leu248Arg | |
| XM_011532945.2:c.698T>G (FANCL) | XP_011531247.1:p.Leu233Arg | |
| XM_011533092.3:c.*473A>C (VRK2) | XP_011531394.1:n.*473A>C | |
| XM_017004414.2:c.1079T>G (FANCL) | XP_016859903.1:p.Leu360Arg | |
| XM_017004416.1:c.683T>G (FANCL) | XP_016859905.1:p.Leu228Arg | |
| XM_017004858.2:c.*850A>C (VRK2) | XP_016860347.1:n.*850A>C | |
| XM_017004859.2:c.*473A>C (VRK2) | XP_016860348.1:n.*473A>C | |
| XM_017004860.2:c.*473A>C (VRK2) | XP_016860349.1:n.*473A>C | |
| XM_017004861.2:c.*473A>C (VRK2) | XP_016860350.1:n.*473A>C | |
| XM_017004862.2:c.*473A>C (VRK2) | XP_016860351.1:n.*473A>C | |
| XM_017004863.2:c.*473A>C (VRK2) | XP_016860352.1:n.*473A>C | |
| XM_017004864.2:c.*850A>C (VRK2) | XP_016860353.1:n.*850A>C | |
| XM_017004865.1:c.*858A>C (VRK2) | XP_016860354.1:n.*858A>C | |
| XM_017004866.1:c.*858A>C (VRK2) | XP_016860355.1:n.*858A>C | |
| XR_001738802.2:n.980T>G (FANCL) | ||
| XR_001738803.2:n.965T>G (FANCL) | ||
| XR_002959309.1:n.1676T>G (FANCL) | ||
| XR_939692.2:n.1025T>G (FANCL) | ||
| NM_001374615.1:c.1079T>G (FANCL) | NP_001361544.1:p.Leu360Arg | |
| NM_018062.4:c.1034T>G (FANCL) MANE Select | NP_060532.2:p.Leu345Arg | |
| NR_164659.1:n.915T>G (FANCL) |