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.58160160G>A , CM000664.2:g.58160160G>A | GRCh38 |
| NC_000002.11:g.58387295G>A , CM000664.1:g.58387295G>A | GRCh37 |
| NC_000002.10:g.58240799G>A | NCBI36 |
| NG_007418.1:g.86220C>T , LRG_501:g.86220C>T | |
| NG_029717.2:g.257420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1055C>T (FANCL) | ENSP00000385021.3:p.Thr352Ile | |
| ENST00000403295.8:c.956C>T (FANCL) | ENSP00000386097.3:p.Thr319Ile | |
| ENST00000403676.6:c.*603C>T (FANCL) | ENSP00000384046.2:n.*603C>T | |
| ENST00000417361.2:c.*618C>T (FANCL) | ENSP00000389448.2:n.*618C>T | |
| ENST00000427708.7:c.1085C>T (FANCL) | ENSP00000400969.3:p.Thr362Ile | |
| ENST00000446381.6:c.596C>T (FANCL) | ENSP00000390991.2:p.Thr199Ile | |
| ENST00000449070.6:c.863C>T (FANCL) | ENSP00000401280.2:p.Thr288Ile | |
| ENST00000470506.2:n.1554C>T (FANCL) | ||
| ENST00000696305.1:c.983C>T (FANCL) | ENSP00000512543.1:p.Thr328Ile | |
| ENST00000696306.1:c.*930C>T (FANCL) | ENSP00000512544.1:n.*930C>T | |
| ENST00000696307.1:c.1025C>T (FANCL) | ENSP00000512545.1:p.Thr342Ile | |
| ENST00000696314.1:c.*93C>T (FANCL) | ENSP00000512552.1:n.*93C>T | |
| ENST00000696315.1:c.*603C>T (FANCL) | ENSP00000512553.1:n.*603C>T | |
| ENST00000696316.1:c.923C>T (FANCL) | ENSP00000512554.1:p.Thr308Ile | |
| ENST00000696317.1:c.*13C>T (FANCL) | ENSP00000512555.1:n.*13C>T | |
| ENST00000696318.1:c.*93C>T (FANCL) | ENSP00000512556.1:n.*93C>T | |
| ENST00000696319.1:c.998C>T (FANCL) | ENSP00000512557.1:p.Thr333Ile | |
| ENST00000696320.1:n.2719C>T (FANCL) | ||
| ENST00000696324.1:c.*490C>T (FANCL) | ENSP00000512561.1:n.*490C>T | |
| ENST00000696325.1:n.4123C>T (FANCL) | ||
| ENST00000696326.1:c.1100C>T (FANCL) | ENSP00000512562.1:p.Thr367Ile | |
| ENST00000696338.1:n.1154C>T (FANCL) | ||
| ENST00000696339.1:n.2612C>T (FANCL) | ||
| ENST00000696340.1:n.3266C>T (FANCL) | ||
| ENST00000696341.1:n.1548C>T (FANCL) | ||
| ENST00000696342.1:c.*2270C>T (FANCL) | ENSP00000512569.1:n.*2270C>T | |
| ENST00000696343.1:n.2899C>T (FANCL) | ||
| ENST00000696344.1:c.*754C>T (FANCL) | ENSP00000512570.1:n.*754C>T | |
| ENST00000696358.1:n.3713C>T (FANCL) | ||
| ENST00000696359.1:n.3390C>T (FANCL) | ||
| ENST00000696360.1:n.1825C>T (FANCL) | ||
| ENST00000696361.1:c.*1043C>T (FANCL) | ENSP00000512579.1:n.*1043C>T | |
| ENST00000696362.1:c.*490C>T (FANCL) | ENSP00000512580.1:n.*490C>T | |
| ENST00000696363.1:n.2817C>T (FANCL) | ||
| ENST00000696364.1:n.1433C>T (FANCL) | ||
| ENST00000696371.1:c.1031C>T (FANCL) | ENSP00000512586.1:p.Thr344Ile | |
| ENST00000696372.1:n.2129C>T (FANCL) | ||
| ENST00000696373.1:c.*2270C>T (FANCL) | ENSP00000512587.1:n.*2270C>T | |
| ENST00000696374.1:c.*408C>T (FANCL) | ENSP00000512588.1:n.*408C>T | |
| ENST00000696375.1:n.7973C>T (FANCL) | ||
| ENST00000696376.1:n.6826C>T (FANCL) | ||
| ENST00000696378.1:c.*1058C>T (FANCL) | ENSP00000512589.1:n.*1058C>T | |
| ENST00000696394.1:n.4542C>T (FANCL) | ||
| ENST00000696395.1:n.4481C>T (FANCL) | ||
| ENST00000696396.1:n.2194C>T (FANCL) | ||
| ENST00000696397.1:n.3165C>T (FANCL) | ||
| ENST00000696398.1:c.*187C>T (FANCL) | ENSP00000512604.1:n.*187C>T | |
| ENST00000696399.1:n.2314C>T (FANCL) | ||
| ENST00000696400.1:c.*804C>T (FANCL) | ENSP00000512605.1:n.*804C>T | |
| ENST00000696409.1:c.*557C>T (FANCL) | ENSP00000512610.1:n.*557C>T | |
| ENST00000696410.1:c.*521C>T (FANCL) | ENSP00000512611.1:n.*521C>T | |
| ENST00000696411.1:n.745C>T (FANCL) | ||
| ENST00000696412.1:n.1539C>T (FANCL) | ||
| ENST00000696413.1:n.1042C>T (FANCL) | ||
| ENST00000696414.1:n.2086C>T (FANCL) | ||
| ENST00000696415.1:c.*13C>T (FANCL) | ENSP00000512612.1:n.*13C>T | |
| ENST00000696416.1:n.1048C>T (FANCL) | ||
| ENST00000696432.1:n.3499C>T (FANCL) | ||
| ENST00000696433.1:c.*93C>T (FANCL) | ENSP00000512627.1:n.*93C>T | |
| ENST00000696434.1:c.878C>T (FANCL) | ENSP00000512628.1:p.Thr293Ile | |
| ENST00000696435.1:c.*187C>T (FANCL) | ENSP00000512629.1:n.*187C>T | |
| ENST00000696436.1:n.994C>T (FANCL) | ||
| ENST00000696437.1:n.1457C>T (FANCL) | ||
| ENST00000696438.1:c.*873C>T (FANCL) | ENSP00000512630.1:n.*873C>T | |
| ENST00000696439.1:n.3089C>T (FANCL) | ||
| ENST00000696440.1:n.2076C>T (FANCL) | ||
| ENST00000696454.1:c.*391C>T (FANCL) | ENSP00000512641.1:n.*391C>T | |
| ENST00000696455.1:c.*93C>T (FANCL) | ENSP00000512642.1:n.*93C>T | |
| ENST00000696456.1:n.550C>T (FANCL) | ||
| ENST00000696457.1:c.*1811C>T (FANCL) | ENSP00000512643.1:n.*1811C>T | |
| ENST00000696458.1:c.*13C>T (FANCL) | ENSP00000512644.1:n.*13C>T | |
| ENST00000696459.1:c.*475C>T (FANCL) | ENSP00000512645.1:n.*475C>T | |
| ENST00000696460.1:n.1537C>T (FANCL) | ||
| ENST00000696467.1:c.*536C>T (FANCL) | ENSP00000512648.1:n.*536C>T | |
| ENST00000696468.1:c.*532C>T (FANCL) | ENSP00000512649.1:n.*532C>T | |
| ENST00000696469.1:c.*187C>T (FANCL) | ENSP00000512650.1:n.*187C>T | |
| ENST00000696470.1:n.3208C>T (FANCL) | ||
| ENST00000696471.1:n.710C>T (FANCL) | ||
| ENST00000696472.1:c.*93C>T (FANCL) | ENSP00000512651.1:n.*93C>T | |
| ENST00000696473.1:c.*723C>T (FANCL) | ENSP00000512652.1:n.*723C>T | |
| ENST00000696474.1:n.916C>T (FANCL) | ||
| ENST00000696475.1:n.2548C>T (FANCL) | ||
| ENST00000696492.1:c.*705C>T (FANCL) | ENSP00000512662.1:n.*705C>T | |
| ENST00000696493.1:c.*888C>T (FANCL) | ENSP00000512663.1:n.*888C>T | |
| ENST00000696494.1:n.1072C>T (FANCL) | ||
| ENST00000696495.1:c.*786C>T (FANCL) | ENSP00000512664.1:n.*786C>T | |
| ENST00000696496.1:n.1579C>T (FANCL) | ||
| ENST00000696497.1:n.4337C>T (FANCL) | ||
| ENST00000696498.1:n.1799C>T (FANCL) | ||
| ENST00000696499.1:c.*477C>T (FANCL) | ENSP00000512665.1:n.*477C>T | |
| ENST00000696508.1:c.*595C>T (FANCL) | ENSP00000512674.1:n.*595C>T | |
| ENST00000696509.1:c.*917C>T (FANCL) | ENSP00000512675.1:n.*917C>T | |
| ENST00000696510.1:c.512C>T (FANCL) | ENSP00000512676.1:p.Thr171Ile | |
| ENST00000696527.1:c.*93C>T (FANCL) | ENSP00000512690.1:n.*93C>T | |
| ENST00000696528.1:c.*93C>T (FANCL) | ENSP00000512691.1:n.*93C>T | |
| ENST00000696529.1:n.903C>T (FANCL) | ||
| ENST00000696530.1:c.836C>T (FANCL) | ENSP00000512692.1:p.Thr279Ile | |
| ENST00000696531.1:c.*572C>T (FANCL) | ENSP00000512693.1:n.*572C>T | |
| ENST00000696532.1:n.2187C>T (FANCL) | ||
| ENST00000696542.1:n.978C>T (FANCL) | ||
| ENST00000696543.1:c.*93C>T (FANCL) | ENSP00000512703.1:n.*93C>T | |
| ENST00000696544.1:c.*93C>T (FANCL) | ENSP00000512704.1:n.*93C>T | |
| ENST00000696545.1:c.*708C>T (FANCL) | ENSP00000512705.1:n.*708C>T | |
| ENST00000696546.1:c.*819C>T (FANCL) | ENSP00000512706.1:n.*819C>T | |
| ENST00000696547.1:c.1028C>T (FANCL) | ENSP00000512707.1:p.Thr343Ile | |
| ENST00000696548.1:c.*1244C>T (FANCL) | ENSP00000512708.1:n.*1244C>T | |
| ENST00000696564.1:c.*93C>T (FANCL) | ENSP00000512722.1:n.*93C>T | |
| ENST00000696565.1:c.*93C>T (FANCL) | ENSP00000512723.1:n.*93C>T | |
| ENST00000696566.1:n.3628C>T (FANCL) | ||
| ENST00000696567.1:c.935C>T (FANCL) | ENSP00000512724.1:p.Thr312Ile | |
| ENST00000696568.1:n.466C>T (FANCL) | ||
| ENST00000696569.1:n.1149C>T (FANCL) | ||
| ENST00000696570.1:c.*362C>T (FANCL) | ENSP00000512725.1:n.*362C>T | |
| ENST00000696619.1:n.2596C>T (FANCL) | ||
| ENST00000696620.1:c.632C>T (FANCL) | ENSP00000512759.1:p.Thr211Ile | |
| ENST00000696621.1:c.*187C>T (FANCL) | ENSP00000512760.1:n.*187C>T | |
| ENST00000696622.1:n.2771C>T (FANCL) | ||
| ENST00000696623.1:n.1006C>T (FANCL) | ||
| ENST00000696624.1:c.971C>T (FANCL) | ENSP00000512761.1:p.Thr324Ile | |
| ENST00000696625.1:c.*490C>T (FANCL) | ENSP00000512762.1:n.*490C>T | |
| ENST00000696634.1:c.753C>T (FANCL) | ENSP00000512770.1:n.753C>T | |
| ENST00000696635.1:c.1016C>T (FANCL) | ENSP00000512771.1:p.Thr339Ile | |
| ENST00000696636.1:n.3492C>T (FANCL) | ||
| ENST00000696637.1:n.8113C>T (FANCL) | ||
| ENST00000696638.1:n.1055C>T (FANCL) | ||
| ENST00000696639.1:n.3118C>T (FANCL) | ||
| ENST00000233741.9:c.1040C>T (FANCL) MANE Select | ENSP00000233741.5:p.Thr347Ile | |
| ENST00000233741.8:c.1040C>T (FANCL) | ENSP00000233741.4:p.Thr347Ile | |
| ENST00000402135.7:c.1055C>T (FANCL) | ENSP00000385021.3:p.Thr352Ile | |
| ENST00000403295.7:c.956C>T (FANCL) | ENSP00000386097.3:p.Thr319Ile | |
| ENST00000403676.5:c.689C>T (FANCL) | ENSP00000384046.1:p.Thr230Ile | |
| ENST00000449070.5:c.863C>T (FANCL) | ENSP00000401280.1:p.Thr288Ile | |
| NM_001114636.1:c.1055C>T , LRG_501t1:c.1055C>T (FANCL) | NP_001108108.1:p.Thr352Ile | |
| NM_018062.3:c.1040C>T , LRG_501t2:c.1040C>T (FANCL) | NP_060532.2:p.Thr347Ile | |
| XM_005264395.2:c.1040C>T (FANCL) | XP_005264452.1:p.Thr347Ile | |
| XM_005264397.3:c.689C>T (FANCL) | XP_005264454.1:p.Thr230Ile | |
| XM_011532939.1:c.1100C>T (FANCL) | XP_011531241.1:p.Thr367Ile | |
| XM_011532940.1:c.1085C>T (FANCL) | XP_011531242.1:p.Thr362Ile | |
| XM_011532941.1:c.1100C>T (FANCL) | XP_011531243.1:p.Thr367Ile | |
| XM_011532942.1:c.1055C>T (FANCL) | XP_011531244.1:p.Thr352Ile | |
| XM_011532943.1:c.1301C>T (FANCL) | XP_011531245.1:p.Thr434Ile | |
| XM_011532944.1:c.749C>T (FANCL) | XP_011531246.1:p.Thr250Ile | |
| XM_011532945.1:c.704C>T (FANCL) | XP_011531247.1:p.Thr235Ile | |
| XR_939692.1:n.1039C>T (FANCL) | ||
| NR_156742.1:n.829C>T (FANCL) | ||
| XM_005264395.4:c.1040C>T (FANCL) | XP_005264452.1:p.Thr347Ile | |
| XM_005264540.4:c.*467G>A (VRK2) | XP_005264597.1:n.*467G>A | |
| XM_006712090.4:c.*844G>A (VRK2) | XP_006712153.1:n.*844G>A | |
| XM_006712092.4:c.*467G>A (VRK2) | XP_006712155.1:n.*467G>A | |
| XM_006712093.4:c.*467G>A (VRK2) | XP_006712156.1:n.*467G>A | |
| XM_011532939.3:c.1100C>T (FANCL) | XP_011531241.1:p.Thr367Ile | |
| XM_011532940.3:c.1085C>T (FANCL) | XP_011531242.1:p.Thr362Ile | |
| XM_011532941.2:c.1100C>T (FANCL) | XP_011531243.1:p.Thr367Ile | |
| XM_011532942.3:c.1055C>T (FANCL) | XP_011531244.1:p.Thr352Ile | |
| XM_011532944.2:c.749C>T (FANCL) | XP_011531246.1:p.Thr250Ile | |
| XM_011532945.2:c.704C>T (FANCL) | XP_011531247.1:p.Thr235Ile | |
| XM_011533092.3:c.*467G>A (VRK2) | XP_011531394.1:n.*467G>A | |
| XM_017004414.2:c.1085C>T (FANCL) | XP_016859903.1:p.Thr362Ile | |
| XM_017004416.1:c.689C>T (FANCL) | XP_016859905.1:p.Thr230Ile | |
| XM_017004858.2:c.*844G>A (VRK2) | XP_016860347.1:n.*844G>A | |
| XM_017004859.2:c.*467G>A (VRK2) | XP_016860348.1:n.*467G>A | |
| XM_017004860.2:c.*467G>A (VRK2) | XP_016860349.1:n.*467G>A | |
| XM_017004861.2:c.*467G>A (VRK2) | XP_016860350.1:n.*467G>A | |
| XM_017004862.2:c.*467G>A (VRK2) | XP_016860351.1:n.*467G>A | |
| XM_017004863.2:c.*467G>A (VRK2) | XP_016860352.1:n.*467G>A | |
| XM_017004864.2:c.*844G>A (VRK2) | XP_016860353.1:n.*844G>A | |
| XM_017004865.1:c.*852G>A (VRK2) | XP_016860354.1:n.*852G>A | |
| XM_017004866.1:c.*852G>A (VRK2) | XP_016860355.1:n.*852G>A | |
| XR_001738802.2:n.986C>T (FANCL) | ||
| XR_001738803.2:n.971C>T (FANCL) | ||
| XR_002959309.1:n.1682C>T (FANCL) | ||
| XR_939692.2:n.1031C>T (FANCL) | ||
| NM_001374615.1:c.1085C>T (FANCL) | NP_001361544.1:p.Thr362Ile | |
| NM_018062.4:c.1040C>T (FANCL) MANE Select | NP_060532.2:p.Thr347Ile | |
| NR_164659.1:n.921C>T (FANCL) |