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.58160161T>C , CM000664.2:g.58160161T>C | GRCh38 |
| NC_000002.11:g.58387296T>C , CM000664.1:g.58387296T>C | GRCh37 |
| NC_000002.10:g.58240800T>C | NCBI36 |
| NG_007418.1:g.86219A>G , LRG_501:g.86219A>G | |
| NG_029717.2:g.257421T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1054A>G (FANCL) | ENSP00000385021.3:p.Thr352Ala | |
| ENST00000403295.8:c.955A>G (FANCL) | ENSP00000386097.3:p.Thr319Ala | |
| ENST00000403676.6:c.*602A>G (FANCL) | ENSP00000384046.2:n.*602A>G | |
| ENST00000417361.2:c.*617A>G (FANCL) | ENSP00000389448.2:n.*617A>G | |
| ENST00000427708.7:c.1084A>G (FANCL) | ENSP00000400969.3:p.Thr362Ala | |
| ENST00000446381.6:c.595A>G (FANCL) | ENSP00000390991.2:p.Thr199Ala | |
| ENST00000449070.6:c.862A>G (FANCL) | ENSP00000401280.2:p.Thr288Ala | |
| ENST00000470506.2:n.1553A>G (FANCL) | ||
| ENST00000696305.1:c.982A>G (FANCL) | ENSP00000512543.1:p.Thr328Ala | |
| ENST00000696306.1:c.*929A>G (FANCL) | ENSP00000512544.1:n.*929A>G | |
| ENST00000696307.1:c.1024A>G (FANCL) | ENSP00000512545.1:p.Thr342Ala | |
| ENST00000696314.1:c.*92A>G (FANCL) | ENSP00000512552.1:n.*92A>G | |
| ENST00000696315.1:c.*602A>G (FANCL) | ENSP00000512553.1:n.*602A>G | |
| ENST00000696316.1:c.922A>G (FANCL) | ENSP00000512554.1:p.Thr308Ala | |
| ENST00000696317.1:c.*12A>G (FANCL) | ENSP00000512555.1:n.*12A>G | |
| ENST00000696318.1:c.*92A>G (FANCL) | ENSP00000512556.1:n.*92A>G | |
| ENST00000696319.1:c.997A>G (FANCL) | ENSP00000512557.1:p.Thr333Ala | |
| ENST00000696320.1:n.2718A>G (FANCL) | ||
| ENST00000696324.1:c.*489A>G (FANCL) | ENSP00000512561.1:n.*489A>G | |
| ENST00000696325.1:n.4122A>G (FANCL) | ||
| ENST00000696326.1:c.1099A>G (FANCL) | ENSP00000512562.1:p.Thr367Ala | |
| ENST00000696338.1:n.1153A>G (FANCL) | ||
| ENST00000696339.1:n.2611A>G (FANCL) | ||
| ENST00000696340.1:n.3265A>G (FANCL) | ||
| ENST00000696341.1:n.1547A>G (FANCL) | ||
| ENST00000696342.1:c.*2269A>G (FANCL) | ENSP00000512569.1:n.*2269A>G | |
| ENST00000696343.1:n.2898A>G (FANCL) | ||
| ENST00000696344.1:c.*753A>G (FANCL) | ENSP00000512570.1:n.*753A>G | |
| ENST00000696358.1:n.3712A>G (FANCL) | ||
| ENST00000696359.1:n.3389A>G (FANCL) | ||
| ENST00000696360.1:n.1824A>G (FANCL) | ||
| ENST00000696361.1:c.*1042A>G (FANCL) | ENSP00000512579.1:n.*1042A>G | |
| ENST00000696362.1:c.*489A>G (FANCL) | ENSP00000512580.1:n.*489A>G | |
| ENST00000696363.1:n.2816A>G (FANCL) | ||
| ENST00000696364.1:n.1432A>G (FANCL) | ||
| ENST00000696371.1:c.1030A>G (FANCL) | ENSP00000512586.1:p.Thr344Ala | |
| ENST00000696372.1:n.2128A>G (FANCL) | ||
| ENST00000696373.1:c.*2269A>G (FANCL) | ENSP00000512587.1:n.*2269A>G | |
| ENST00000696374.1:c.*407A>G (FANCL) | ENSP00000512588.1:n.*407A>G | |
| ENST00000696375.1:n.7972A>G (FANCL) | ||
| ENST00000696376.1:n.6825A>G (FANCL) | ||
| ENST00000696378.1:c.*1057A>G (FANCL) | ENSP00000512589.1:n.*1057A>G | |
| ENST00000696394.1:n.4541A>G (FANCL) | ||
| ENST00000696395.1:n.4480A>G (FANCL) | ||
| ENST00000696396.1:n.2193A>G (FANCL) | ||
| ENST00000696397.1:n.3164A>G (FANCL) | ||
| ENST00000696398.1:c.*186A>G (FANCL) | ENSP00000512604.1:n.*186A>G | |
| ENST00000696399.1:n.2313A>G (FANCL) | ||
| ENST00000696400.1:c.*803A>G (FANCL) | ENSP00000512605.1:n.*803A>G | |
| ENST00000696409.1:c.*556A>G (FANCL) | ENSP00000512610.1:n.*556A>G | |
| ENST00000696410.1:c.*520A>G (FANCL) | ENSP00000512611.1:n.*520A>G | |
| ENST00000696411.1:n.744A>G (FANCL) | ||
| ENST00000696412.1:n.1538A>G (FANCL) | ||
| ENST00000696413.1:n.1041A>G (FANCL) | ||
| ENST00000696414.1:n.2085A>G (FANCL) | ||
| ENST00000696415.1:c.*12A>G (FANCL) | ENSP00000512612.1:n.*12A>G | |
| ENST00000696416.1:n.1047A>G (FANCL) | ||
| ENST00000696432.1:n.3498A>G (FANCL) | ||
| ENST00000696433.1:c.*92A>G (FANCL) | ENSP00000512627.1:n.*92A>G | |
| ENST00000696434.1:c.877A>G (FANCL) | ENSP00000512628.1:p.Thr293Ala | |
| ENST00000696435.1:c.*186A>G (FANCL) | ENSP00000512629.1:n.*186A>G | |
| ENST00000696436.1:n.993A>G (FANCL) | ||
| ENST00000696437.1:n.1456A>G (FANCL) | ||
| ENST00000696438.1:c.*872A>G (FANCL) | ENSP00000512630.1:n.*872A>G | |
| ENST00000696439.1:n.3088A>G (FANCL) | ||
| ENST00000696440.1:n.2075A>G (FANCL) | ||
| ENST00000696454.1:c.*390A>G (FANCL) | ENSP00000512641.1:n.*390A>G | |
| ENST00000696455.1:c.*92A>G (FANCL) | ENSP00000512642.1:n.*92A>G | |
| ENST00000696456.1:n.549A>G (FANCL) | ||
| ENST00000696457.1:c.*1810A>G (FANCL) | ENSP00000512643.1:n.*1810A>G | |
| ENST00000696458.1:c.*12A>G (FANCL) | ENSP00000512644.1:n.*12A>G | |
| ENST00000696459.1:c.*474A>G (FANCL) | ENSP00000512645.1:n.*474A>G | |
| ENST00000696460.1:n.1536A>G (FANCL) | ||
| ENST00000696467.1:c.*535A>G (FANCL) | ENSP00000512648.1:n.*535A>G | |
| ENST00000696468.1:c.*531A>G (FANCL) | ENSP00000512649.1:n.*531A>G | |
| ENST00000696469.1:c.*186A>G (FANCL) | ENSP00000512650.1:n.*186A>G | |
| ENST00000696470.1:n.3207A>G (FANCL) | ||
| ENST00000696471.1:n.709A>G (FANCL) | ||
| ENST00000696472.1:c.*92A>G (FANCL) | ENSP00000512651.1:n.*92A>G | |
| ENST00000696473.1:c.*722A>G (FANCL) | ENSP00000512652.1:n.*722A>G | |
| ENST00000696474.1:n.915A>G (FANCL) | ||
| ENST00000696475.1:n.2547A>G (FANCL) | ||
| ENST00000696492.1:c.*704A>G (FANCL) | ENSP00000512662.1:n.*704A>G | |
| ENST00000696493.1:c.*887A>G (FANCL) | ENSP00000512663.1:n.*887A>G | |
| ENST00000696494.1:n.1071A>G (FANCL) | ||
| ENST00000696495.1:c.*785A>G (FANCL) | ENSP00000512664.1:n.*785A>G | |
| ENST00000696496.1:n.1578A>G (FANCL) | ||
| ENST00000696497.1:n.4336A>G (FANCL) | ||
| ENST00000696498.1:n.1798A>G (FANCL) | ||
| ENST00000696499.1:c.*476A>G (FANCL) | ENSP00000512665.1:n.*476A>G | |
| ENST00000696508.1:c.*594A>G (FANCL) | ENSP00000512674.1:n.*594A>G | |
| ENST00000696509.1:c.*916A>G (FANCL) | ENSP00000512675.1:n.*916A>G | |
| ENST00000696510.1:c.511A>G (FANCL) | ENSP00000512676.1:p.Thr171Ala | |
| ENST00000696527.1:c.*92A>G (FANCL) | ENSP00000512690.1:n.*92A>G | |
| ENST00000696528.1:c.*92A>G (FANCL) | ENSP00000512691.1:n.*92A>G | |
| ENST00000696529.1:n.902A>G (FANCL) | ||
| ENST00000696530.1:c.835A>G (FANCL) | ENSP00000512692.1:p.Thr279Ala | |
| ENST00000696531.1:c.*571A>G (FANCL) | ENSP00000512693.1:n.*571A>G | |
| ENST00000696532.1:n.2186A>G (FANCL) | ||
| ENST00000696542.1:n.977A>G (FANCL) | ||
| ENST00000696543.1:c.*92A>G (FANCL) | ENSP00000512703.1:n.*92A>G | |
| ENST00000696544.1:c.*92A>G (FANCL) | ENSP00000512704.1:n.*92A>G | |
| ENST00000696545.1:c.*707A>G (FANCL) | ENSP00000512705.1:n.*707A>G | |
| ENST00000696546.1:c.*818A>G (FANCL) | ENSP00000512706.1:n.*818A>G | |
| ENST00000696547.1:c.1027A>G (FANCL) | ENSP00000512707.1:p.Thr343Ala | |
| ENST00000696548.1:c.*1243A>G (FANCL) | ENSP00000512708.1:n.*1243A>G | |
| ENST00000696564.1:c.*92A>G (FANCL) | ENSP00000512722.1:n.*92A>G | |
| ENST00000696565.1:c.*92A>G (FANCL) | ENSP00000512723.1:n.*92A>G | |
| ENST00000696566.1:n.3627A>G (FANCL) | ||
| ENST00000696567.1:c.934A>G (FANCL) | ENSP00000512724.1:p.Thr312Ala | |
| ENST00000696568.1:n.465A>G (FANCL) | ||
| ENST00000696569.1:n.1148A>G (FANCL) | ||
| ENST00000696570.1:c.*361A>G (FANCL) | ENSP00000512725.1:n.*361A>G | |
| ENST00000696619.1:n.2595A>G (FANCL) | ||
| ENST00000696620.1:c.631A>G (FANCL) | ENSP00000512759.1:p.Thr211Ala | |
| ENST00000696621.1:c.*186A>G (FANCL) | ENSP00000512760.1:n.*186A>G | |
| ENST00000696622.1:n.2770A>G (FANCL) | ||
| ENST00000696623.1:n.1005A>G (FANCL) | ||
| ENST00000696624.1:c.970A>G (FANCL) | ENSP00000512761.1:p.Thr324Ala | |
| ENST00000696625.1:c.*489A>G (FANCL) | ENSP00000512762.1:n.*489A>G | |
| ENST00000696634.1:c.752A>G (FANCL) | ENSP00000512770.1:n.752A>G | |
| ENST00000696635.1:c.1015A>G (FANCL) | ENSP00000512771.1:p.Thr339Ala | |
| ENST00000696636.1:n.3491A>G (FANCL) | ||
| ENST00000696637.1:n.8112A>G (FANCL) | ||
| ENST00000696638.1:n.1054A>G (FANCL) | ||
| ENST00000696639.1:n.3117A>G (FANCL) | ||
| ENST00000233741.9:c.1039A>G (FANCL) MANE Select | ENSP00000233741.5:p.Thr347Ala | |
| ENST00000233741.8:c.1039A>G (FANCL) | ENSP00000233741.4:p.Thr347Ala | |
| ENST00000402135.7:c.1054A>G (FANCL) | ENSP00000385021.3:p.Thr352Ala | |
| ENST00000403295.7:c.955A>G (FANCL) | ENSP00000386097.3:p.Thr319Ala | |
| ENST00000403676.5:c.688A>G (FANCL) | ENSP00000384046.1:p.Thr230Ala | |
| ENST00000449070.5:c.862A>G (FANCL) | ENSP00000401280.1:p.Thr288Ala | |
| NM_001114636.1:c.1054A>G , LRG_501t1:c.1054A>G (FANCL) | NP_001108108.1:p.Thr352Ala | |
| NM_018062.3:c.1039A>G , LRG_501t2:c.1039A>G (FANCL) | NP_060532.2:p.Thr347Ala | |
| XM_005264395.2:c.1039A>G (FANCL) | XP_005264452.1:p.Thr347Ala | |
| XM_005264397.3:c.688A>G (FANCL) | XP_005264454.1:p.Thr230Ala | |
| XM_011532939.1:c.1099A>G (FANCL) | XP_011531241.1:p.Thr367Ala | |
| XM_011532940.1:c.1084A>G (FANCL) | XP_011531242.1:p.Thr362Ala | |
| XM_011532941.1:c.1099A>G (FANCL) | XP_011531243.1:p.Thr367Ala | |
| XM_011532942.1:c.1054A>G (FANCL) | XP_011531244.1:p.Thr352Ala | |
| XM_011532943.1:c.1300A>G (FANCL) | XP_011531245.1:p.Thr434Ala | |
| XM_011532944.1:c.748A>G (FANCL) | XP_011531246.1:p.Thr250Ala | |
| XM_011532945.1:c.703A>G (FANCL) | XP_011531247.1:p.Thr235Ala | |
| XR_939692.1:n.1038A>G (FANCL) | ||
| NR_156742.1:n.828A>G (FANCL) | ||
| XM_005264395.4:c.1039A>G (FANCL) | XP_005264452.1:p.Thr347Ala | |
| XM_005264540.4:c.*468T>C (VRK2) | XP_005264597.1:n.*468T>C | |
| XM_006712090.4:c.*845T>C (VRK2) | XP_006712153.1:n.*845T>C | |
| XM_006712092.4:c.*468T>C (VRK2) | XP_006712155.1:n.*468T>C | |
| XM_006712093.4:c.*468T>C (VRK2) | XP_006712156.1:n.*468T>C | |
| XM_011532939.3:c.1099A>G (FANCL) | XP_011531241.1:p.Thr367Ala | |
| XM_011532940.3:c.1084A>G (FANCL) | XP_011531242.1:p.Thr362Ala | |
| XM_011532941.2:c.1099A>G (FANCL) | XP_011531243.1:p.Thr367Ala | |
| XM_011532942.3:c.1054A>G (FANCL) | XP_011531244.1:p.Thr352Ala | |
| XM_011532944.2:c.748A>G (FANCL) | XP_011531246.1:p.Thr250Ala | |
| XM_011532945.2:c.703A>G (FANCL) | XP_011531247.1:p.Thr235Ala | |
| XM_011533092.3:c.*468T>C (VRK2) | XP_011531394.1:n.*468T>C | |
| XM_017004414.2:c.1084A>G (FANCL) | XP_016859903.1:p.Thr362Ala | |
| XM_017004416.1:c.688A>G (FANCL) | XP_016859905.1:p.Thr230Ala | |
| XM_017004858.2:c.*845T>C (VRK2) | XP_016860347.1:n.*845T>C | |
| XM_017004859.2:c.*468T>C (VRK2) | XP_016860348.1:n.*468T>C | |
| XM_017004860.2:c.*468T>C (VRK2) | XP_016860349.1:n.*468T>C | |
| XM_017004861.2:c.*468T>C (VRK2) | XP_016860350.1:n.*468T>C | |
| XM_017004862.2:c.*468T>C (VRK2) | XP_016860351.1:n.*468T>C | |
| XM_017004863.2:c.*468T>C (VRK2) | XP_016860352.1:n.*468T>C | |
| XM_017004864.2:c.*845T>C (VRK2) | XP_016860353.1:n.*845T>C | |
| XM_017004865.1:c.*853T>C (VRK2) | XP_016860354.1:n.*853T>C | |
| XM_017004866.1:c.*853T>C (VRK2) | XP_016860355.1:n.*853T>C | |
| XR_001738802.2:n.985A>G (FANCL) | ||
| XR_001738803.2:n.970A>G (FANCL) | ||
| XR_002959309.1:n.1681A>G (FANCL) | ||
| XR_939692.2:n.1030A>G (FANCL) | ||
| NM_001374615.1:c.1084A>G (FANCL) | NP_001361544.1:p.Thr362Ala | |
| NM_018062.4:c.1039A>G (FANCL) MANE Select | NP_060532.2:p.Thr347Ala | |
| NR_164659.1:n.920A>G (FANCL) |