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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58160148C= , CM000664.2:g.58160148C= | GRCh38 |
| NC_000002.11:g.58387283C= , CM000664.1:g.58387283C= | GRCh37 |
| NC_000002.10:g.58240787C= | NCBI36 |
| NG_007418.1:g.86232G= , LRG_501:g.86232G= | |
| NG_029717.2:g.257408C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1067G= (FANCL) | ENSP00000385021.3:p.Ser356= | |
| ENST00000403295.8:c.968G= (FANCL) | ENSP00000386097.3:p.Ser323= | |
| ENST00000403676.6:c.*615G= (FANCL) | ENSP00000384046.2:n.*615G= | |
| ENST00000417361.2:c.*630G= (FANCL) | ENSP00000389448.2:n.*630G= | |
| ENST00000427708.7:c.1097G= (FANCL) | ENSP00000400969.3:p.Ser366= | |
| ENST00000446381.6:c.608G= (FANCL) | ENSP00000390991.2:p.Ser203= | |
| ENST00000449070.6:c.875G= (FANCL) | ENSP00000401280.2:p.Ser292= | |
| ENST00000470506.2:n.1566G= (FANCL) | ||
| ENST00000696305.1:c.995G= (FANCL) | ENSP00000512543.1:p.Ser332= | |
| ENST00000696306.1:c.*942G= (FANCL) | ENSP00000512544.1:n.*942G= | |
| ENST00000696307.1:c.1037G= (FANCL) | ENSP00000512545.1:p.Ser346= | |
| ENST00000696314.1:c.*105G= (FANCL) | ENSP00000512552.1:n.*105G= | |
| ENST00000696315.1:c.*615G= (FANCL) | ENSP00000512553.1:n.*615G= | |
| ENST00000696316.1:c.935G= (FANCL) | ENSP00000512554.1:p.Ser312= | |
| ENST00000696317.1:c.*25G= (FANCL) | ENSP00000512555.1:n.*25G= | |
| ENST00000696318.1:c.*105G= (FANCL) | ENSP00000512556.1:n.*105G= | |
| ENST00000696319.1:c.1010G= (FANCL) | ENSP00000512557.1:p.Ser337= | |
| ENST00000696320.1:n.2731G= (FANCL) | ||
| ENST00000696324.1:c.*502G= (FANCL) | ENSP00000512561.1:n.*502G= | |
| ENST00000696325.1:n.4135G= (FANCL) | ||
| ENST00000696326.1:c.1112G= (FANCL) | ENSP00000512562.1:p.Ser371= | |
| ENST00000696338.1:n.1166G= (FANCL) | ||
| ENST00000696339.1:n.2624G= (FANCL) | ||
| ENST00000696340.1:n.3278G= (FANCL) | ||
| ENST00000696341.1:n.1560G= (FANCL) | ||
| ENST00000696342.1:c.*2282G= (FANCL) | ENSP00000512569.1:n.*2282G= | |
| ENST00000696343.1:n.2911G= (FANCL) | ||
| ENST00000696344.1:c.*766G= (FANCL) | ENSP00000512570.1:n.*766G= | |
| ENST00000696358.1:n.3725G= (FANCL) | ||
| ENST00000696359.1:n.3402G= (FANCL) | ||
| ENST00000696360.1:n.1837G= (FANCL) | ||
| ENST00000696361.1:c.*1055G= (FANCL) | ENSP00000512579.1:n.*1055G= | |
| ENST00000696362.1:c.*502G= (FANCL) | ENSP00000512580.1:n.*502G= | |
| ENST00000696363.1:n.2829G= (FANCL) | ||
| ENST00000696364.1:n.1445G= (FANCL) | ||
| ENST00000696371.1:c.1043G= (FANCL) | ENSP00000512586.1:p.Ser348= | |
| ENST00000696372.1:n.2141G= (FANCL) | ||
| ENST00000696373.1:c.*2282G= (FANCL) | ENSP00000512587.1:n.*2282G= | |
| ENST00000696374.1:c.*420G= (FANCL) | ENSP00000512588.1:n.*420G= | |
| ENST00000696375.1:n.7985G= (FANCL) | ||
| ENST00000696376.1:n.6838G= (FANCL) | ||
| ENST00000696378.1:c.*1070G= (FANCL) | ENSP00000512589.1:n.*1070G= | |
| ENST00000696394.1:n.4554G= (FANCL) | ||
| ENST00000696395.1:n.4493G= (FANCL) | ||
| ENST00000696396.1:n.2206G= (FANCL) | ||
| ENST00000696397.1:n.3177G= (FANCL) | ||
| ENST00000696398.1:c.*199G= (FANCL) | ENSP00000512604.1:n.*199G= | |
| ENST00000696399.1:n.2326G= (FANCL) | ||
| ENST00000696400.1:c.*816G= (FANCL) | ENSP00000512605.1:n.*816G= | |
| ENST00000696409.1:c.*569G= (FANCL) | ENSP00000512610.1:n.*569G= | |
| ENST00000696410.1:c.*533G= (FANCL) | ENSP00000512611.1:n.*533G= | |
| ENST00000696411.1:n.757G= (FANCL) | ||
| ENST00000696412.1:n.1551G= (FANCL) | ||
| ENST00000696413.1:n.1054G= (FANCL) | ||
| ENST00000696414.1:n.2098G= (FANCL) | ||
| ENST00000696415.1:c.*25G= (FANCL) | ENSP00000512612.1:n.*25G= | |
| ENST00000696416.1:n.1060G= (FANCL) | ||
| ENST00000696432.1:n.3511G= (FANCL) | ||
| ENST00000696433.1:c.*105G= (FANCL) | ENSP00000512627.1:n.*105G= | |
| ENST00000696434.1:c.890G= (FANCL) | ENSP00000512628.1:p.Ser297= | |
| ENST00000696435.1:c.*199G= (FANCL) | ENSP00000512629.1:n.*199G= | |
| ENST00000696436.1:n.1006G= (FANCL) | ||
| ENST00000696437.1:n.1469G= (FANCL) | ||
| ENST00000696438.1:c.*885G= (FANCL) | ENSP00000512630.1:n.*885G= | |
| ENST00000696439.1:n.3101G= (FANCL) | ||
| ENST00000696440.1:n.2088G= (FANCL) | ||
| ENST00000696454.1:c.*403G= (FANCL) | ENSP00000512641.1:n.*403G= | |
| ENST00000696455.1:c.*105G= (FANCL) | ENSP00000512642.1:n.*105G= | |
| ENST00000696456.1:n.562G= (FANCL) | ||
| ENST00000696457.1:c.*1823G= (FANCL) | ENSP00000512643.1:n.*1823G= | |
| ENST00000696458.1:c.*25G= (FANCL) | ENSP00000512644.1:n.*25G= | |
| ENST00000696459.1:c.*487G= (FANCL) | ENSP00000512645.1:n.*487G= | |
| ENST00000696460.1:n.1549G= (FANCL) | ||
| ENST00000696467.1:c.*548G= (FANCL) | ENSP00000512648.1:n.*548G= | |
| ENST00000696468.1:c.*544G= (FANCL) | ENSP00000512649.1:n.*544G= | |
| ENST00000696469.1:c.*199G= (FANCL) | ENSP00000512650.1:n.*199G= | |
| ENST00000696470.1:n.3220G= (FANCL) | ||
| ENST00000696471.1:n.722G= (FANCL) | ||
| ENST00000696472.1:c.*105G= (FANCL) | ENSP00000512651.1:n.*105G= | |
| ENST00000696473.1:c.*735G= (FANCL) | ENSP00000512652.1:n.*735G= | |
| ENST00000696474.1:n.928G= (FANCL) | ||
| ENST00000696475.1:n.2560G= (FANCL) | ||
| ENST00000696492.1:c.*717G= (FANCL) | ENSP00000512662.1:n.*717G= | |
| ENST00000696493.1:c.*900G= (FANCL) | ENSP00000512663.1:n.*900G= | |
| ENST00000696494.1:n.1084G= (FANCL) | ||
| ENST00000696495.1:c.*798G= (FANCL) | ENSP00000512664.1:n.*798G= | |
| ENST00000696496.1:n.1591G= (FANCL) | ||
| ENST00000696497.1:n.4349G= (FANCL) | ||
| ENST00000696498.1:n.1811G= (FANCL) | ||
| ENST00000696499.1:c.*489G= (FANCL) | ENSP00000512665.1:n.*489G= | |
| ENST00000696508.1:c.*607G= (FANCL) | ENSP00000512674.1:n.*607G= | |
| ENST00000696509.1:c.*929G= (FANCL) | ENSP00000512675.1:n.*929G= | |
| ENST00000696510.1:c.524G= (FANCL) | ENSP00000512676.1:p.Ser175= | |
| ENST00000696527.1:c.*105G= (FANCL) | ENSP00000512690.1:n.*105G= | |
| ENST00000696528.1:c.*105G= (FANCL) | ENSP00000512691.1:n.*105G= | |
| ENST00000696529.1:n.915G= (FANCL) | ||
| ENST00000696530.1:c.848G= (FANCL) | ENSP00000512692.1:p.Ser283= | |
| ENST00000696531.1:c.*584G= (FANCL) | ENSP00000512693.1:n.*584G= | |
| ENST00000696532.1:n.2199G= (FANCL) | ||
| ENST00000696542.1:n.990G= (FANCL) | ||
| ENST00000696543.1:c.*105G= (FANCL) | ENSP00000512703.1:n.*105G= | |
| ENST00000696544.1:c.*105G= (FANCL) | ENSP00000512704.1:n.*105G= | |
| ENST00000696545.1:c.*720G= (FANCL) | ENSP00000512705.1:n.*720G= | |
| ENST00000696546.1:c.*831G= (FANCL) | ENSP00000512706.1:n.*831G= | |
| ENST00000696547.1:c.1040G= (FANCL) | ENSP00000512707.1:p.Ser347= | |
| ENST00000696548.1:c.*1256G= (FANCL) | ENSP00000512708.1:n.*1256G= | |
| ENST00000696564.1:c.*105G= (FANCL) | ENSP00000512722.1:n.*105G= | |
| ENST00000696565.1:c.*105G= (FANCL) | ENSP00000512723.1:n.*105G= | |
| ENST00000696566.1:n.3640G= (FANCL) | ||
| ENST00000696567.1:c.947G= (FANCL) | ENSP00000512724.1:p.Ser316= | |
| ENST00000696568.1:n.478G= (FANCL) | ||
| ENST00000696569.1:n.1161G= (FANCL) | ||
| ENST00000696570.1:c.*374G= (FANCL) | ENSP00000512725.1:n.*374G= | |
| ENST00000696619.1:n.2608G= (FANCL) | ||
| ENST00000696620.1:c.644G= (FANCL) | ENSP00000512759.1:p.Ser215= | |
| ENST00000696621.1:c.*199G= (FANCL) | ENSP00000512760.1:n.*199G= | |
| ENST00000696622.1:n.2783G= (FANCL) | ||
| ENST00000696623.1:n.1018G= (FANCL) | ||
| ENST00000696624.1:c.983G= (FANCL) | ENSP00000512761.1:p.Ser328= | |
| ENST00000696625.1:c.*502G= (FANCL) | ENSP00000512762.1:n.*502G= | |
| ENST00000696634.1:c.765G= (FANCL) | ENSP00000512770.1:n.765G= | |
| ENST00000696635.1:c.1028G= (FANCL) | ENSP00000512771.1:p.Ser343= | |
| ENST00000696636.1:n.3504G= (FANCL) | ||
| ENST00000696637.1:n.8125G= (FANCL) | ||
| ENST00000696638.1:n.1067G= (FANCL) | ||
| ENST00000696639.1:n.3130G= (FANCL) | ||
| ENST00000233741.9:c.1052G= (FANCL) MANE Select | ENSP00000233741.5:p.Ser351= | |
| ENST00000233741.8:c.1052G= (FANCL) | ENSP00000233741.4:p.Ser351= | |
| ENST00000402135.7:c.1067G= (FANCL) | ENSP00000385021.3:p.Ser356= | |
| ENST00000403295.7:c.968G= (FANCL) | ENSP00000386097.3:p.Ser323= | |
| ENST00000403676.5:c.701G= (FANCL) | ENSP00000384046.1:p.Ser234= | |
| ENST00000449070.5:c.875G= (FANCL) | ENSP00000401280.1:p.Ser292= | |
| NM_001114636.1:c.1067G= , LRG_501t1:c.1067G= (FANCL) | NP_001108108.1:p.Ser356= | |
| NM_018062.3:c.1052G= , LRG_501t2:c.1052G= (FANCL) | NP_060532.2:p.Ser351= | |
| XM_005264395.2:c.1052G= (FANCL) | XP_005264452.1:p.Ser351= | |
| XM_005264397.3:c.701G= (FANCL) | XP_005264454.1:p.Ser234= | |
| XM_011532939.1:c.1112G= (FANCL) | XP_011531241.1:p.Ser371= | |
| XM_011532940.1:c.1097G= (FANCL) | XP_011531242.1:p.Ser366= | |
| XM_011532941.1:c.1112G= (FANCL) | XP_011531243.1:p.Ser371= | |
| XM_011532942.1:c.1067G= (FANCL) | XP_011531244.1:p.Ser356= | |
| XM_011532943.1:c.1313G= (FANCL) | XP_011531245.1:p.Ser438= | |
| XM_011532944.1:c.761G= (FANCL) | XP_011531246.1:p.Ser254= | |
| XM_011532945.1:c.716G= (FANCL) | XP_011531247.1:p.Ser239= | |
| XR_939692.1:n.1051G= (FANCL) | ||
| NR_156742.1:n.841G= (FANCL) | ||
| XM_005264395.4:c.1052G= (FANCL) | XP_005264452.1:p.Ser351= | |
| XM_005264540.4:c.*455C= (VRK2) | XP_005264597.1:n.*455C= | |
| XM_006712090.4:c.*832C= (VRK2) | XP_006712153.1:n.*832C= | |
| XM_006712092.4:c.*455C= (VRK2) | XP_006712155.1:n.*455C= | |
| XM_006712093.4:c.*455C= (VRK2) | XP_006712156.1:n.*455C= | |
| XM_011532939.3:c.1112G= (FANCL) | XP_011531241.1:p.Ser371= | |
| XM_011532940.3:c.1097G= (FANCL) | XP_011531242.1:p.Ser366= | |
| XM_011532941.2:c.1112G= (FANCL) | XP_011531243.1:p.Ser371= | |
| XM_011532942.3:c.1067G= (FANCL) | XP_011531244.1:p.Ser356= | |
| XM_011532944.2:c.761G= (FANCL) | XP_011531246.1:p.Ser254= | |
| XM_011532945.2:c.716G= (FANCL) | XP_011531247.1:p.Ser239= | |
| XM_011533092.3:c.*455C= (VRK2) | XP_011531394.1:n.*455C= | |
| XM_017004414.2:c.1097G= (FANCL) | XP_016859903.1:p.Ser366= | |
| XM_017004416.1:c.701G= (FANCL) | XP_016859905.1:p.Ser234= | |
| XM_017004858.2:c.*832C= (VRK2) | XP_016860347.1:n.*832C= | |
| XM_017004859.2:c.*455C= (VRK2) | XP_016860348.1:n.*455C= | |
| XM_017004860.2:c.*455C= (VRK2) | XP_016860349.1:n.*455C= | |
| XM_017004861.2:c.*455C= (VRK2) | XP_016860350.1:n.*455C= | |
| XM_017004862.2:c.*455C= (VRK2) | XP_016860351.1:n.*455C= | |
| XM_017004863.2:c.*455C= (VRK2) | XP_016860352.1:n.*455C= | |
| XM_017004864.2:c.*832C= (VRK2) | XP_016860353.1:n.*832C= | |
| XM_017004865.1:c.*840C= (VRK2) | XP_016860354.1:n.*840C= | |
| XM_017004866.1:c.*840C= (VRK2) | XP_016860355.1:n.*840C= | |
| XR_001738802.2:n.998G= (FANCL) | ||
| XR_001738803.2:n.983G= (FANCL) | ||
| XR_002959309.1:n.1694G= (FANCL) | ||
| XR_939692.2:n.1043G= (FANCL) | ||
| NM_001374615.1:c.1097G= (FANCL) | NP_001361544.1:p.Ser366= | |
| NM_018062.4:c.1052G= (FANCL) MANE Select | NP_060532.2:p.Ser351= | |
| NR_164659.1:n.933G= (FANCL) |