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.58160131C>T , CM000664.2:g.58160131C>T | GRCh38 |
| NC_000002.11:g.58387266C>T , CM000664.1:g.58387266C>T | GRCh37 |
| NC_000002.10:g.58240770C>T | NCBI36 |
| NG_007418.1:g.86249G>A , LRG_501:g.86249G>A | |
| NG_029717.2:g.257391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1084G>A (FANCL) | ENSP00000385021.3:p.Gly362Ser | |
| ENST00000403295.8:c.985G>A (FANCL) | ENSP00000386097.3:p.Gly329Ser | |
| ENST00000403676.6:c.*632G>A (FANCL) | ENSP00000384046.2:n.*632G>A | |
| ENST00000417361.2:c.*647G>A (FANCL) | ENSP00000389448.2:n.*647G>A | |
| ENST00000427708.7:c.1114G>A (FANCL) | ENSP00000400969.3:p.Gly372Ser | |
| ENST00000446381.6:c.625G>A (FANCL) | ENSP00000390991.2:p.Gly209Ser | |
| ENST00000449070.6:c.892G>A (FANCL) | ENSP00000401280.2:p.Gly298Ser | |
| ENST00000470506.2:n.1583G>A (FANCL) | ||
| ENST00000696305.1:c.1012G>A (FANCL) | ENSP00000512543.1:p.Gly338Ser | |
| ENST00000696306.1:c.*959G>A (FANCL) | ENSP00000512544.1:n.*959G>A | |
| ENST00000696307.1:c.1054G>A (FANCL) | ENSP00000512545.1:p.Gly352Ser | |
| ENST00000696314.1:c.*122G>A (FANCL) | ENSP00000512552.1:n.*122G>A | |
| ENST00000696315.1:c.*632G>A (FANCL) | ENSP00000512553.1:n.*632G>A | |
| ENST00000696316.1:c.952G>A (FANCL) | ENSP00000512554.1:p.Gly318Ser | |
| ENST00000696317.1:c.*42G>A (FANCL) | ENSP00000512555.1:n.*42G>A | |
| ENST00000696318.1:c.*122G>A (FANCL) | ENSP00000512556.1:n.*122G>A | |
| ENST00000696319.1:c.1027G>A (FANCL) | ENSP00000512557.1:p.Gly343Ser | |
| ENST00000696320.1:n.2748G>A (FANCL) | ||
| ENST00000696324.1:c.*519G>A (FANCL) | ENSP00000512561.1:n.*519G>A | |
| ENST00000696325.1:n.4152G>A (FANCL) | ||
| ENST00000696326.1:c.1129G>A (FANCL) | ENSP00000512562.1:p.Gly377Ser | |
| ENST00000696338.1:n.1183G>A (FANCL) | ||
| ENST00000696339.1:n.2641G>A (FANCL) | ||
| ENST00000696340.1:n.3295G>A (FANCL) | ||
| ENST00000696341.1:n.1577G>A (FANCL) | ||
| ENST00000696342.1:c.*2299G>A (FANCL) | ENSP00000512569.1:n.*2299G>A | |
| ENST00000696343.1:n.2928G>A (FANCL) | ||
| ENST00000696344.1:c.*783G>A (FANCL) | ENSP00000512570.1:n.*783G>A | |
| ENST00000696358.1:n.3742G>A (FANCL) | ||
| ENST00000696359.1:n.3419G>A (FANCL) | ||
| ENST00000696360.1:n.1854G>A (FANCL) | ||
| ENST00000696361.1:c.*1072G>A (FANCL) | ENSP00000512579.1:n.*1072G>A | |
| ENST00000696362.1:c.*519G>A (FANCL) | ENSP00000512580.1:n.*519G>A | |
| ENST00000696363.1:n.2846G>A (FANCL) | ||
| ENST00000696364.1:n.1462G>A (FANCL) | ||
| ENST00000696371.1:c.1060G>A (FANCL) | ENSP00000512586.1:p.Gly354Ser | |
| ENST00000696372.1:n.2158G>A (FANCL) | ||
| ENST00000696373.1:c.*2299G>A (FANCL) | ENSP00000512587.1:n.*2299G>A | |
| ENST00000696374.1:c.*437G>A (FANCL) | ENSP00000512588.1:n.*437G>A | |
| ENST00000696375.1:n.8002G>A (FANCL) | ||
| ENST00000696376.1:n.6855G>A (FANCL) | ||
| ENST00000696378.1:c.*1087G>A (FANCL) | ENSP00000512589.1:n.*1087G>A | |
| ENST00000696394.1:n.4571G>A (FANCL) | ||
| ENST00000696395.1:n.4510G>A (FANCL) | ||
| ENST00000696396.1:n.2223G>A (FANCL) | ||
| ENST00000696397.1:n.3194G>A (FANCL) | ||
| ENST00000696398.1:c.*216G>A (FANCL) | ENSP00000512604.1:n.*216G>A | |
| ENST00000696399.1:n.2343G>A (FANCL) | ||
| ENST00000696400.1:c.*833G>A (FANCL) | ENSP00000512605.1:n.*833G>A | |
| ENST00000696409.1:c.*586G>A (FANCL) | ENSP00000512610.1:n.*586G>A | |
| ENST00000696410.1:c.*550G>A (FANCL) | ENSP00000512611.1:n.*550G>A | |
| ENST00000696411.1:n.774G>A (FANCL) | ||
| ENST00000696412.1:n.1568G>A (FANCL) | ||
| ENST00000696413.1:n.1071G>A (FANCL) | ||
| ENST00000696414.1:n.2115G>A (FANCL) | ||
| ENST00000696415.1:c.*42G>A (FANCL) | ENSP00000512612.1:n.*42G>A | |
| ENST00000696416.1:n.1077G>A (FANCL) | ||
| ENST00000696432.1:n.3528G>A (FANCL) | ||
| ENST00000696433.1:c.*122G>A (FANCL) | ENSP00000512627.1:n.*122G>A | |
| ENST00000696434.1:c.907G>A (FANCL) | ENSP00000512628.1:p.Gly303Ser | |
| ENST00000696435.1:c.*216G>A (FANCL) | ENSP00000512629.1:n.*216G>A | |
| ENST00000696436.1:n.1023G>A (FANCL) | ||
| ENST00000696437.1:n.1486G>A (FANCL) | ||
| ENST00000696438.1:c.*902G>A (FANCL) | ENSP00000512630.1:n.*902G>A | |
| ENST00000696439.1:n.3118G>A (FANCL) | ||
| ENST00000696440.1:n.2105G>A (FANCL) | ||
| ENST00000696454.1:c.*420G>A (FANCL) | ENSP00000512641.1:n.*420G>A | |
| ENST00000696455.1:c.*122G>A (FANCL) | ENSP00000512642.1:n.*122G>A | |
| ENST00000696456.1:n.579G>A (FANCL) | ||
| ENST00000696457.1:c.*1840G>A (FANCL) | ENSP00000512643.1:n.*1840G>A | |
| ENST00000696458.1:c.*42G>A (FANCL) | ENSP00000512644.1:n.*42G>A | |
| ENST00000696459.1:c.*504G>A (FANCL) | ENSP00000512645.1:n.*504G>A | |
| ENST00000696460.1:n.1566G>A (FANCL) | ||
| ENST00000696467.1:c.*565G>A (FANCL) | ENSP00000512648.1:n.*565G>A | |
| ENST00000696468.1:c.*561G>A (FANCL) | ENSP00000512649.1:n.*561G>A | |
| ENST00000696469.1:c.*216G>A (FANCL) | ENSP00000512650.1:n.*216G>A | |
| ENST00000696470.1:n.3237G>A (FANCL) | ||
| ENST00000696471.1:n.739G>A (FANCL) | ||
| ENST00000696472.1:c.*122G>A (FANCL) | ENSP00000512651.1:n.*122G>A | |
| ENST00000696473.1:c.*752G>A (FANCL) | ENSP00000512652.1:n.*752G>A | |
| ENST00000696474.1:n.945G>A (FANCL) | ||
| ENST00000696475.1:n.2577G>A (FANCL) | ||
| ENST00000696492.1:c.*734G>A (FANCL) | ENSP00000512662.1:n.*734G>A | |
| ENST00000696493.1:c.*917G>A (FANCL) | ENSP00000512663.1:n.*917G>A | |
| ENST00000696494.1:n.1101G>A (FANCL) | ||
| ENST00000696495.1:c.*815G>A (FANCL) | ENSP00000512664.1:n.*815G>A | |
| ENST00000696496.1:n.1608G>A (FANCL) | ||
| ENST00000696497.1:n.4366G>A (FANCL) | ||
| ENST00000696498.1:n.1828G>A (FANCL) | ||
| ENST00000696499.1:c.*506G>A (FANCL) | ENSP00000512665.1:n.*506G>A | |
| ENST00000696508.1:c.*624G>A (FANCL) | ENSP00000512674.1:n.*624G>A | |
| ENST00000696509.1:c.*946G>A (FANCL) | ENSP00000512675.1:n.*946G>A | |
| ENST00000696510.1:c.541G>A (FANCL) | ENSP00000512676.1:p.Gly181Ser | |
| ENST00000696527.1:c.*122G>A (FANCL) | ENSP00000512690.1:n.*122G>A | |
| ENST00000696528.1:c.*122G>A (FANCL) | ENSP00000512691.1:n.*122G>A | |
| ENST00000696529.1:n.932G>A (FANCL) | ||
| ENST00000696530.1:c.865G>A (FANCL) | ENSP00000512692.1:p.Gly289Ser | |
| ENST00000696531.1:c.*601G>A (FANCL) | ENSP00000512693.1:n.*601G>A | |
| ENST00000696532.1:n.2216G>A (FANCL) | ||
| ENST00000696542.1:n.1007G>A (FANCL) | ||
| ENST00000696543.1:c.*122G>A (FANCL) | ENSP00000512703.1:n.*122G>A | |
| ENST00000696544.1:c.*122G>A (FANCL) | ENSP00000512704.1:n.*122G>A | |
| ENST00000696545.1:c.*737G>A (FANCL) | ENSP00000512705.1:n.*737G>A | |
| ENST00000696546.1:c.*848G>A (FANCL) | ENSP00000512706.1:n.*848G>A | |
| ENST00000696547.1:c.1057G>A (FANCL) | ENSP00000512707.1:p.Gly353Ser | |
| ENST00000696548.1:c.*1273G>A (FANCL) | ENSP00000512708.1:n.*1273G>A | |
| ENST00000696564.1:c.*122G>A (FANCL) | ENSP00000512722.1:n.*122G>A | |
| ENST00000696565.1:c.*122G>A (FANCL) | ENSP00000512723.1:n.*122G>A | |
| ENST00000696566.1:n.3657G>A (FANCL) | ||
| ENST00000696567.1:c.964G>A (FANCL) | ENSP00000512724.1:p.Gly322Ser | |
| ENST00000696568.1:n.495G>A (FANCL) | ||
| ENST00000696569.1:n.1178G>A (FANCL) | ||
| ENST00000696570.1:c.*391G>A (FANCL) | ENSP00000512725.1:n.*391G>A | |
| ENST00000696619.1:n.2625G>A (FANCL) | ||
| ENST00000696620.1:c.661G>A (FANCL) | ENSP00000512759.1:p.Gly221Ser | |
| ENST00000696621.1:c.*216G>A (FANCL) | ENSP00000512760.1:n.*216G>A | |
| ENST00000696622.1:n.2800G>A (FANCL) | ||
| ENST00000696623.1:n.1035G>A (FANCL) | ||
| ENST00000696624.1:c.1000G>A (FANCL) | ENSP00000512761.1:p.Gly334Ser | |
| ENST00000696625.1:c.*519G>A (FANCL) | ENSP00000512762.1:n.*519G>A | |
| ENST00000696634.1:c.782G>A (FANCL) | ENSP00000512770.1:n.782G>A | |
| ENST00000696635.1:c.1045G>A (FANCL) | ENSP00000512771.1:p.Gly349Ser | |
| ENST00000696636.1:n.3521G>A (FANCL) | ||
| ENST00000696637.1:n.8142G>A (FANCL) | ||
| ENST00000696638.1:n.1084G>A (FANCL) | ||
| ENST00000696639.1:n.3147G>A (FANCL) | ||
| ENST00000233741.9:c.1069G>A (FANCL) MANE Select | ENSP00000233741.5:p.Gly357Ser | |
| ENST00000233741.8:c.1069G>A (FANCL) | ENSP00000233741.4:p.Gly357Ser | |
| ENST00000402135.7:c.1084G>A (FANCL) | ENSP00000385021.3:p.Gly362Ser | |
| ENST00000403295.7:c.985G>A (FANCL) | ENSP00000386097.3:p.Gly329Ser | |
| ENST00000403676.5:c.718G>A (FANCL) | ENSP00000384046.1:p.Gly240Ser | |
| ENST00000449070.5:c.892G>A (FANCL) | ENSP00000401280.1:p.Gly298Ser | |
| NM_001114636.1:c.1084G>A , LRG_501t1:c.1084G>A (FANCL) | NP_001108108.1:p.Gly362Ser | |
| NM_018062.3:c.1069G>A , LRG_501t2:c.1069G>A (FANCL) | NP_060532.2:p.Gly357Ser | |
| XM_005264395.2:c.1069G>A (FANCL) | XP_005264452.1:p.Gly357Ser | |
| XM_005264397.3:c.718G>A (FANCL) | XP_005264454.1:p.Gly240Ser | |
| XM_011532939.1:c.1129G>A (FANCL) | XP_011531241.1:p.Gly377Ser | |
| XM_011532940.1:c.1114G>A (FANCL) | XP_011531242.1:p.Gly372Ser | |
| XM_011532941.1:c.1129G>A (FANCL) | XP_011531243.1:p.Gly377Ser | |
| XM_011532942.1:c.1084G>A (FANCL) | XP_011531244.1:p.Gly362Ser | |
| XM_011532943.1:c.1330G>A (FANCL) | XP_011531245.1:p.Gly444Ser | |
| XM_011532944.1:c.778G>A (FANCL) | XP_011531246.1:p.Gly260Ser | |
| XM_011532945.1:c.733G>A (FANCL) | XP_011531247.1:p.Gly245Ser | |
| XR_939692.1:n.1068G>A (FANCL) | ||
| NR_156742.1:n.858G>A (FANCL) | ||
| XM_005264395.4:c.1069G>A (FANCL) | XP_005264452.1:p.Gly357Ser | |
| XM_005264540.4:c.*438C>T (VRK2) | XP_005264597.1:n.*438C>T | |
| XM_006712090.4:c.*815C>T (VRK2) | XP_006712153.1:n.*815C>T | |
| XM_006712092.4:c.*438C>T (VRK2) | XP_006712155.1:n.*438C>T | |
| XM_006712093.4:c.*438C>T (VRK2) | XP_006712156.1:n.*438C>T | |
| XM_011532939.3:c.1129G>A (FANCL) | XP_011531241.1:p.Gly377Ser | |
| XM_011532940.3:c.1114G>A (FANCL) | XP_011531242.1:p.Gly372Ser | |
| XM_011532941.2:c.1129G>A (FANCL) | XP_011531243.1:p.Gly377Ser | |
| XM_011532942.3:c.1084G>A (FANCL) | XP_011531244.1:p.Gly362Ser | |
| XM_011532944.2:c.778G>A (FANCL) | XP_011531246.1:p.Gly260Ser | |
| XM_011532945.2:c.733G>A (FANCL) | XP_011531247.1:p.Gly245Ser | |
| XM_011533092.3:c.*438C>T (VRK2) | XP_011531394.1:n.*438C>T | |
| XM_017004414.2:c.1114G>A (FANCL) | XP_016859903.1:p.Gly372Ser | |
| XM_017004416.1:c.718G>A (FANCL) | XP_016859905.1:p.Gly240Ser | |
| XM_017004858.2:c.*815C>T (VRK2) | XP_016860347.1:n.*815C>T | |
| XM_017004859.2:c.*438C>T (VRK2) | XP_016860348.1:n.*438C>T | |
| XM_017004860.2:c.*438C>T (VRK2) | XP_016860349.1:n.*438C>T | |
| XM_017004861.2:c.*438C>T (VRK2) | XP_016860350.1:n.*438C>T | |
| XM_017004862.2:c.*438C>T (VRK2) | XP_016860351.1:n.*438C>T | |
| XM_017004863.2:c.*438C>T (VRK2) | XP_016860352.1:n.*438C>T | |
| XM_017004864.2:c.*815C>T (VRK2) | XP_016860353.1:n.*815C>T | |
| XM_017004865.1:c.*823C>T (VRK2) | XP_016860354.1:n.*823C>T | |
| XM_017004866.1:c.*823C>T (VRK2) | XP_016860355.1:n.*823C>T | |
| XR_001738802.2:n.1015G>A (FANCL) | ||
| XR_001738803.2:n.1000G>A (FANCL) | ||
| XR_002959309.1:n.1711G>A (FANCL) | ||
| XR_939692.2:n.1060G>A (FANCL) | ||
| NM_001374615.1:c.1114G>A (FANCL) | NP_001361544.1:p.Gly372Ser | |
| NM_018062.4:c.1069G>A (FANCL) MANE Select | NP_060532.2:p.Gly357Ser | |
| NR_164659.1:n.950G>A (FANCL) |