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.58160158T>A , CM000664.2:g.58160158T>A | GRCh38 |
| NC_000002.11:g.58387293T>A , CM000664.1:g.58387293T>A | GRCh37 |
| NC_000002.10:g.58240797T>A | NCBI36 |
| NG_007418.1:g.86222A>T , LRG_501:g.86222A>T | |
| NG_029717.2:g.257418T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1057A>T (FANCL) | ENSP00000385021.3:p.Ser353Cys | |
| ENST00000403295.8:c.958A>T (FANCL) | ENSP00000386097.3:p.Ser320Cys | |
| ENST00000403676.6:c.*605A>T (FANCL) | ENSP00000384046.2:n.*605A>T | |
| ENST00000417361.2:c.*620A>T (FANCL) | ENSP00000389448.2:n.*620A>T | |
| ENST00000427708.7:c.1087A>T (FANCL) | ENSP00000400969.3:p.Ser363Cys | |
| ENST00000446381.6:c.598A>T (FANCL) | ENSP00000390991.2:p.Ser200Cys | |
| ENST00000449070.6:c.865A>T (FANCL) | ENSP00000401280.2:p.Ser289Cys | |
| ENST00000470506.2:n.1556A>T (FANCL) | ||
| ENST00000696305.1:c.985A>T (FANCL) | ENSP00000512543.1:p.Ser329Cys | |
| ENST00000696306.1:c.*932A>T (FANCL) | ENSP00000512544.1:n.*932A>T | |
| ENST00000696307.1:c.1027A>T (FANCL) | ENSP00000512545.1:p.Ser343Cys | |
| ENST00000696314.1:c.*95A>T (FANCL) | ENSP00000512552.1:n.*95A>T | |
| ENST00000696315.1:c.*605A>T (FANCL) | ENSP00000512553.1:n.*605A>T | |
| ENST00000696316.1:c.925A>T (FANCL) | ENSP00000512554.1:p.Ser309Cys | |
| ENST00000696317.1:c.*15A>T (FANCL) | ENSP00000512555.1:n.*15A>T | |
| ENST00000696318.1:c.*95A>T (FANCL) | ENSP00000512556.1:n.*95A>T | |
| ENST00000696319.1:c.1000A>T (FANCL) | ENSP00000512557.1:p.Ser334Cys | |
| ENST00000696320.1:n.2721A>T (FANCL) | ||
| ENST00000696324.1:c.*492A>T (FANCL) | ENSP00000512561.1:n.*492A>T | |
| ENST00000696325.1:n.4125A>T (FANCL) | ||
| ENST00000696326.1:c.1102A>T (FANCL) | ENSP00000512562.1:p.Ser368Cys | |
| ENST00000696338.1:n.1156A>T (FANCL) | ||
| ENST00000696339.1:n.2614A>T (FANCL) | ||
| ENST00000696340.1:n.3268A>T (FANCL) | ||
| ENST00000696341.1:n.1550A>T (FANCL) | ||
| ENST00000696342.1:c.*2272A>T (FANCL) | ENSP00000512569.1:n.*2272A>T | |
| ENST00000696343.1:n.2901A>T (FANCL) | ||
| ENST00000696344.1:c.*756A>T (FANCL) | ENSP00000512570.1:n.*756A>T | |
| ENST00000696358.1:n.3715A>T (FANCL) | ||
| ENST00000696359.1:n.3392A>T (FANCL) | ||
| ENST00000696360.1:n.1827A>T (FANCL) | ||
| ENST00000696361.1:c.*1045A>T (FANCL) | ENSP00000512579.1:n.*1045A>T | |
| ENST00000696362.1:c.*492A>T (FANCL) | ENSP00000512580.1:n.*492A>T | |
| ENST00000696363.1:n.2819A>T (FANCL) | ||
| ENST00000696364.1:n.1435A>T (FANCL) | ||
| ENST00000696371.1:c.1033A>T (FANCL) | ENSP00000512586.1:p.Ser345Cys | |
| ENST00000696372.1:n.2131A>T (FANCL) | ||
| ENST00000696373.1:c.*2272A>T (FANCL) | ENSP00000512587.1:n.*2272A>T | |
| ENST00000696374.1:c.*410A>T (FANCL) | ENSP00000512588.1:n.*410A>T | |
| ENST00000696375.1:n.7975A>T (FANCL) | ||
| ENST00000696376.1:n.6828A>T (FANCL) | ||
| ENST00000696378.1:c.*1060A>T (FANCL) | ENSP00000512589.1:n.*1060A>T | |
| ENST00000696394.1:n.4544A>T (FANCL) | ||
| ENST00000696395.1:n.4483A>T (FANCL) | ||
| ENST00000696396.1:n.2196A>T (FANCL) | ||
| ENST00000696397.1:n.3167A>T (FANCL) | ||
| ENST00000696398.1:c.*189A>T (FANCL) | ENSP00000512604.1:n.*189A>T | |
| ENST00000696399.1:n.2316A>T (FANCL) | ||
| ENST00000696400.1:c.*806A>T (FANCL) | ENSP00000512605.1:n.*806A>T | |
| ENST00000696409.1:c.*559A>T (FANCL) | ENSP00000512610.1:n.*559A>T | |
| ENST00000696410.1:c.*523A>T (FANCL) | ENSP00000512611.1:n.*523A>T | |
| ENST00000696411.1:n.747A>T (FANCL) | ||
| ENST00000696412.1:n.1541A>T (FANCL) | ||
| ENST00000696413.1:n.1044A>T (FANCL) | ||
| ENST00000696414.1:n.2088A>T (FANCL) | ||
| ENST00000696415.1:c.*15A>T (FANCL) | ENSP00000512612.1:n.*15A>T | |
| ENST00000696416.1:n.1050A>T (FANCL) | ||
| ENST00000696432.1:n.3501A>T (FANCL) | ||
| ENST00000696433.1:c.*95A>T (FANCL) | ENSP00000512627.1:n.*95A>T | |
| ENST00000696434.1:c.880A>T (FANCL) | ENSP00000512628.1:p.Ser294Cys | |
| ENST00000696435.1:c.*189A>T (FANCL) | ENSP00000512629.1:n.*189A>T | |
| ENST00000696436.1:n.996A>T (FANCL) | ||
| ENST00000696437.1:n.1459A>T (FANCL) | ||
| ENST00000696438.1:c.*875A>T (FANCL) | ENSP00000512630.1:n.*875A>T | |
| ENST00000696439.1:n.3091A>T (FANCL) | ||
| ENST00000696440.1:n.2078A>T (FANCL) | ||
| ENST00000696454.1:c.*393A>T (FANCL) | ENSP00000512641.1:n.*393A>T | |
| ENST00000696455.1:c.*95A>T (FANCL) | ENSP00000512642.1:n.*95A>T | |
| ENST00000696456.1:n.552A>T (FANCL) | ||
| ENST00000696457.1:c.*1813A>T (FANCL) | ENSP00000512643.1:n.*1813A>T | |
| ENST00000696458.1:c.*15A>T (FANCL) | ENSP00000512644.1:n.*15A>T | |
| ENST00000696459.1:c.*477A>T (FANCL) | ENSP00000512645.1:n.*477A>T | |
| ENST00000696460.1:n.1539A>T (FANCL) | ||
| ENST00000696467.1:c.*538A>T (FANCL) | ENSP00000512648.1:n.*538A>T | |
| ENST00000696468.1:c.*534A>T (FANCL) | ENSP00000512649.1:n.*534A>T | |
| ENST00000696469.1:c.*189A>T (FANCL) | ENSP00000512650.1:n.*189A>T | |
| ENST00000696470.1:n.3210A>T (FANCL) | ||
| ENST00000696471.1:n.712A>T (FANCL) | ||
| ENST00000696472.1:c.*95A>T (FANCL) | ENSP00000512651.1:n.*95A>T | |
| ENST00000696473.1:c.*725A>T (FANCL) | ENSP00000512652.1:n.*725A>T | |
| ENST00000696474.1:n.918A>T (FANCL) | ||
| ENST00000696475.1:n.2550A>T (FANCL) | ||
| ENST00000696492.1:c.*707A>T (FANCL) | ENSP00000512662.1:n.*707A>T | |
| ENST00000696493.1:c.*890A>T (FANCL) | ENSP00000512663.1:n.*890A>T | |
| ENST00000696494.1:n.1074A>T (FANCL) | ||
| ENST00000696495.1:c.*788A>T (FANCL) | ENSP00000512664.1:n.*788A>T | |
| ENST00000696496.1:n.1581A>T (FANCL) | ||
| ENST00000696497.1:n.4339A>T (FANCL) | ||
| ENST00000696498.1:n.1801A>T (FANCL) | ||
| ENST00000696499.1:c.*479A>T (FANCL) | ENSP00000512665.1:n.*479A>T | |
| ENST00000696508.1:c.*597A>T (FANCL) | ENSP00000512674.1:n.*597A>T | |
| ENST00000696509.1:c.*919A>T (FANCL) | ENSP00000512675.1:n.*919A>T | |
| ENST00000696510.1:c.514A>T (FANCL) | ENSP00000512676.1:p.Ser172Cys | |
| ENST00000696527.1:c.*95A>T (FANCL) | ENSP00000512690.1:n.*95A>T | |
| ENST00000696528.1:c.*95A>T (FANCL) | ENSP00000512691.1:n.*95A>T | |
| ENST00000696529.1:n.905A>T (FANCL) | ||
| ENST00000696530.1:c.838A>T (FANCL) | ENSP00000512692.1:p.Ser280Cys | |
| ENST00000696531.1:c.*574A>T (FANCL) | ENSP00000512693.1:n.*574A>T | |
| ENST00000696532.1:n.2189A>T (FANCL) | ||
| ENST00000696542.1:n.980A>T (FANCL) | ||
| ENST00000696543.1:c.*95A>T (FANCL) | ENSP00000512703.1:n.*95A>T | |
| ENST00000696544.1:c.*95A>T (FANCL) | ENSP00000512704.1:n.*95A>T | |
| ENST00000696545.1:c.*710A>T (FANCL) | ENSP00000512705.1:n.*710A>T | |
| ENST00000696546.1:c.*821A>T (FANCL) | ENSP00000512706.1:n.*821A>T | |
| ENST00000696547.1:c.1030A>T (FANCL) | ENSP00000512707.1:p.Ser344Cys | |
| ENST00000696548.1:c.*1246A>T (FANCL) | ENSP00000512708.1:n.*1246A>T | |
| ENST00000696564.1:c.*95A>T (FANCL) | ENSP00000512722.1:n.*95A>T | |
| ENST00000696565.1:c.*95A>T (FANCL) | ENSP00000512723.1:n.*95A>T | |
| ENST00000696566.1:n.3630A>T (FANCL) | ||
| ENST00000696567.1:c.937A>T (FANCL) | ENSP00000512724.1:p.Ser313Cys | |
| ENST00000696568.1:n.468A>T (FANCL) | ||
| ENST00000696569.1:n.1151A>T (FANCL) | ||
| ENST00000696570.1:c.*364A>T (FANCL) | ENSP00000512725.1:n.*364A>T | |
| ENST00000696619.1:n.2598A>T (FANCL) | ||
| ENST00000696620.1:c.634A>T (FANCL) | ENSP00000512759.1:p.Ser212Cys | |
| ENST00000696621.1:c.*189A>T (FANCL) | ENSP00000512760.1:n.*189A>T | |
| ENST00000696622.1:n.2773A>T (FANCL) | ||
| ENST00000696623.1:n.1008A>T (FANCL) | ||
| ENST00000696624.1:c.973A>T (FANCL) | ENSP00000512761.1:p.Ser325Cys | |
| ENST00000696625.1:c.*492A>T (FANCL) | ENSP00000512762.1:n.*492A>T | |
| ENST00000696634.1:c.755A>T (FANCL) | ENSP00000512770.1:n.755A>T | |
| ENST00000696635.1:c.1018A>T (FANCL) | ENSP00000512771.1:p.Ser340Cys | |
| ENST00000696636.1:n.3494A>T (FANCL) | ||
| ENST00000696637.1:n.8115A>T (FANCL) | ||
| ENST00000696638.1:n.1057A>T (FANCL) | ||
| ENST00000696639.1:n.3120A>T (FANCL) | ||
| ENST00000233741.9:c.1042A>T (FANCL) MANE Select | ENSP00000233741.5:p.Ser348Cys | |
| ENST00000233741.8:c.1042A>T (FANCL) | ENSP00000233741.4:p.Ser348Cys | |
| ENST00000402135.7:c.1057A>T (FANCL) | ENSP00000385021.3:p.Ser353Cys | |
| ENST00000403295.7:c.958A>T (FANCL) | ENSP00000386097.3:p.Ser320Cys | |
| ENST00000403676.5:c.691A>T (FANCL) | ENSP00000384046.1:p.Ser231Cys | |
| ENST00000449070.5:c.865A>T (FANCL) | ENSP00000401280.1:p.Ser289Cys | |
| NM_001114636.1:c.1057A>T , LRG_501t1:c.1057A>T (FANCL) | NP_001108108.1:p.Ser353Cys | |
| NM_018062.3:c.1042A>T , LRG_501t2:c.1042A>T (FANCL) | NP_060532.2:p.Ser348Cys | |
| XM_005264395.2:c.1042A>T (FANCL) | XP_005264452.1:p.Ser348Cys | |
| XM_005264397.3:c.691A>T (FANCL) | XP_005264454.1:p.Ser231Cys | |
| XM_011532939.1:c.1102A>T (FANCL) | XP_011531241.1:p.Ser368Cys | |
| XM_011532940.1:c.1087A>T (FANCL) | XP_011531242.1:p.Ser363Cys | |
| XM_011532941.1:c.1102A>T (FANCL) | XP_011531243.1:p.Ser368Cys | |
| XM_011532942.1:c.1057A>T (FANCL) | XP_011531244.1:p.Ser353Cys | |
| XM_011532943.1:c.1303A>T (FANCL) | XP_011531245.1:p.Ser435Cys | |
| XM_011532944.1:c.751A>T (FANCL) | XP_011531246.1:p.Ser251Cys | |
| XM_011532945.1:c.706A>T (FANCL) | XP_011531247.1:p.Ser236Cys | |
| XR_939692.1:n.1041A>T (FANCL) | ||
| NR_156742.1:n.831A>T (FANCL) | ||
| XM_005264395.4:c.1042A>T (FANCL) | XP_005264452.1:p.Ser348Cys | |
| XM_005264540.4:c.*465T>A (VRK2) | XP_005264597.1:n.*465T>A | |
| XM_006712090.4:c.*842T>A (VRK2) | XP_006712153.1:n.*842T>A | |
| XM_006712092.4:c.*465T>A (VRK2) | XP_006712155.1:n.*465T>A | |
| XM_006712093.4:c.*465T>A (VRK2) | XP_006712156.1:n.*465T>A | |
| XM_011532939.3:c.1102A>T (FANCL) | XP_011531241.1:p.Ser368Cys | |
| XM_011532940.3:c.1087A>T (FANCL) | XP_011531242.1:p.Ser363Cys | |
| XM_011532941.2:c.1102A>T (FANCL) | XP_011531243.1:p.Ser368Cys | |
| XM_011532942.3:c.1057A>T (FANCL) | XP_011531244.1:p.Ser353Cys | |
| XM_011532944.2:c.751A>T (FANCL) | XP_011531246.1:p.Ser251Cys | |
| XM_011532945.2:c.706A>T (FANCL) | XP_011531247.1:p.Ser236Cys | |
| XM_011533092.3:c.*465T>A (VRK2) | XP_011531394.1:n.*465T>A | |
| XM_017004414.2:c.1087A>T (FANCL) | XP_016859903.1:p.Ser363Cys | |
| XM_017004416.1:c.691A>T (FANCL) | XP_016859905.1:p.Ser231Cys | |
| XM_017004858.2:c.*842T>A (VRK2) | XP_016860347.1:n.*842T>A | |
| XM_017004859.2:c.*465T>A (VRK2) | XP_016860348.1:n.*465T>A | |
| XM_017004860.2:c.*465T>A (VRK2) | XP_016860349.1:n.*465T>A | |
| XM_017004861.2:c.*465T>A (VRK2) | XP_016860350.1:n.*465T>A | |
| XM_017004862.2:c.*465T>A (VRK2) | XP_016860351.1:n.*465T>A | |
| XM_017004863.2:c.*465T>A (VRK2) | XP_016860352.1:n.*465T>A | |
| XM_017004864.2:c.*842T>A (VRK2) | XP_016860353.1:n.*842T>A | |
| XM_017004865.1:c.*850T>A (VRK2) | XP_016860354.1:n.*850T>A | |
| XM_017004866.1:c.*850T>A (VRK2) | XP_016860355.1:n.*850T>A | |
| XR_001738802.2:n.988A>T (FANCL) | ||
| XR_001738803.2:n.973A>T (FANCL) | ||
| XR_002959309.1:n.1684A>T (FANCL) | ||
| XR_939692.2:n.1033A>T (FANCL) | ||
| NM_001374615.1:c.1087A>T (FANCL) | NP_001361544.1:p.Ser363Cys | |
| NM_018062.4:c.1042A>T (FANCL) MANE Select | NP_060532.2:p.Ser348Cys | |
| NR_164659.1:n.923A>T (FANCL) |