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.58160155T>C , CM000664.2:g.58160155T>C | GRCh38 |
| NC_000002.11:g.58387290T>C , CM000664.1:g.58387290T>C | GRCh37 |
| NC_000002.10:g.58240794T>C | NCBI36 |
| NG_007418.1:g.86225A>G , LRG_501:g.86225A>G | |
| NG_029717.2:g.257415T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1060A>G (FANCL) | ENSP00000385021.3:p.Arg354Gly | |
| ENST00000403295.8:c.961A>G (FANCL) | ENSP00000386097.3:p.Arg321Gly | |
| ENST00000403676.6:c.*608A>G (FANCL) | ENSP00000384046.2:n.*608A>G | |
| ENST00000417361.2:c.*623A>G (FANCL) | ENSP00000389448.2:n.*623A>G | |
| ENST00000427708.7:c.1090A>G (FANCL) | ENSP00000400969.3:p.Arg364Gly | |
| ENST00000446381.6:c.601A>G (FANCL) | ENSP00000390991.2:p.Arg201Gly | |
| ENST00000449070.6:c.868A>G (FANCL) | ENSP00000401280.2:p.Arg290Gly | |
| ENST00000470506.2:n.1559A>G (FANCL) | ||
| ENST00000696305.1:c.988A>G (FANCL) | ENSP00000512543.1:p.Arg330Gly | |
| ENST00000696306.1:c.*935A>G (FANCL) | ENSP00000512544.1:n.*935A>G | |
| ENST00000696307.1:c.1030A>G (FANCL) | ENSP00000512545.1:p.Arg344Gly | |
| ENST00000696314.1:c.*98A>G (FANCL) | ENSP00000512552.1:n.*98A>G | |
| ENST00000696315.1:c.*608A>G (FANCL) | ENSP00000512553.1:n.*608A>G | |
| ENST00000696316.1:c.928A>G (FANCL) | ENSP00000512554.1:p.Arg310Gly | |
| ENST00000696317.1:c.*18A>G (FANCL) | ENSP00000512555.1:n.*18A>G | |
| ENST00000696318.1:c.*98A>G (FANCL) | ENSP00000512556.1:n.*98A>G | |
| ENST00000696319.1:c.1003A>G (FANCL) | ENSP00000512557.1:p.Arg335Gly | |
| ENST00000696320.1:n.2724A>G (FANCL) | ||
| ENST00000696324.1:c.*495A>G (FANCL) | ENSP00000512561.1:n.*495A>G | |
| ENST00000696325.1:n.4128A>G (FANCL) | ||
| ENST00000696326.1:c.1105A>G (FANCL) | ENSP00000512562.1:p.Arg369Gly | |
| ENST00000696338.1:n.1159A>G (FANCL) | ||
| ENST00000696339.1:n.2617A>G (FANCL) | ||
| ENST00000696340.1:n.3271A>G (FANCL) | ||
| ENST00000696341.1:n.1553A>G (FANCL) | ||
| ENST00000696342.1:c.*2275A>G (FANCL) | ENSP00000512569.1:n.*2275A>G | |
| ENST00000696343.1:n.2904A>G (FANCL) | ||
| ENST00000696344.1:c.*759A>G (FANCL) | ENSP00000512570.1:n.*759A>G | |
| ENST00000696358.1:n.3718A>G (FANCL) | ||
| ENST00000696359.1:n.3395A>G (FANCL) | ||
| ENST00000696360.1:n.1830A>G (FANCL) | ||
| ENST00000696361.1:c.*1048A>G (FANCL) | ENSP00000512579.1:n.*1048A>G | |
| ENST00000696362.1:c.*495A>G (FANCL) | ENSP00000512580.1:n.*495A>G | |
| ENST00000696363.1:n.2822A>G (FANCL) | ||
| ENST00000696364.1:n.1438A>G (FANCL) | ||
| ENST00000696371.1:c.1036A>G (FANCL) | ENSP00000512586.1:p.Arg346Gly | |
| ENST00000696372.1:n.2134A>G (FANCL) | ||
| ENST00000696373.1:c.*2275A>G (FANCL) | ENSP00000512587.1:n.*2275A>G | |
| ENST00000696374.1:c.*413A>G (FANCL) | ENSP00000512588.1:n.*413A>G | |
| ENST00000696375.1:n.7978A>G (FANCL) | ||
| ENST00000696376.1:n.6831A>G (FANCL) | ||
| ENST00000696378.1:c.*1063A>G (FANCL) | ENSP00000512589.1:n.*1063A>G | |
| ENST00000696394.1:n.4547A>G (FANCL) | ||
| ENST00000696395.1:n.4486A>G (FANCL) | ||
| ENST00000696396.1:n.2199A>G (FANCL) | ||
| ENST00000696397.1:n.3170A>G (FANCL) | ||
| ENST00000696398.1:c.*192A>G (FANCL) | ENSP00000512604.1:n.*192A>G | |
| ENST00000696399.1:n.2319A>G (FANCL) | ||
| ENST00000696400.1:c.*809A>G (FANCL) | ENSP00000512605.1:n.*809A>G | |
| ENST00000696409.1:c.*562A>G (FANCL) | ENSP00000512610.1:n.*562A>G | |
| ENST00000696410.1:c.*526A>G (FANCL) | ENSP00000512611.1:n.*526A>G | |
| ENST00000696411.1:n.750A>G (FANCL) | ||
| ENST00000696412.1:n.1544A>G (FANCL) | ||
| ENST00000696413.1:n.1047A>G (FANCL) | ||
| ENST00000696414.1:n.2091A>G (FANCL) | ||
| ENST00000696415.1:c.*18A>G (FANCL) | ENSP00000512612.1:n.*18A>G | |
| ENST00000696416.1:n.1053A>G (FANCL) | ||
| ENST00000696432.1:n.3504A>G (FANCL) | ||
| ENST00000696433.1:c.*98A>G (FANCL) | ENSP00000512627.1:n.*98A>G | |
| ENST00000696434.1:c.883A>G (FANCL) | ENSP00000512628.1:p.Arg295Gly | |
| ENST00000696435.1:c.*192A>G (FANCL) | ENSP00000512629.1:n.*192A>G | |
| ENST00000696436.1:n.999A>G (FANCL) | ||
| ENST00000696437.1:n.1462A>G (FANCL) | ||
| ENST00000696438.1:c.*878A>G (FANCL) | ENSP00000512630.1:n.*878A>G | |
| ENST00000696439.1:n.3094A>G (FANCL) | ||
| ENST00000696440.1:n.2081A>G (FANCL) | ||
| ENST00000696454.1:c.*396A>G (FANCL) | ENSP00000512641.1:n.*396A>G | |
| ENST00000696455.1:c.*98A>G (FANCL) | ENSP00000512642.1:n.*98A>G | |
| ENST00000696456.1:n.555A>G (FANCL) | ||
| ENST00000696457.1:c.*1816A>G (FANCL) | ENSP00000512643.1:n.*1816A>G | |
| ENST00000696458.1:c.*18A>G (FANCL) | ENSP00000512644.1:n.*18A>G | |
| ENST00000696459.1:c.*480A>G (FANCL) | ENSP00000512645.1:n.*480A>G | |
| ENST00000696460.1:n.1542A>G (FANCL) | ||
| ENST00000696467.1:c.*541A>G (FANCL) | ENSP00000512648.1:n.*541A>G | |
| ENST00000696468.1:c.*537A>G (FANCL) | ENSP00000512649.1:n.*537A>G | |
| ENST00000696469.1:c.*192A>G (FANCL) | ENSP00000512650.1:n.*192A>G | |
| ENST00000696470.1:n.3213A>G (FANCL) | ||
| ENST00000696471.1:n.715A>G (FANCL) | ||
| ENST00000696472.1:c.*98A>G (FANCL) | ENSP00000512651.1:n.*98A>G | |
| ENST00000696473.1:c.*728A>G (FANCL) | ENSP00000512652.1:n.*728A>G | |
| ENST00000696474.1:n.921A>G (FANCL) | ||
| ENST00000696475.1:n.2553A>G (FANCL) | ||
| ENST00000696492.1:c.*710A>G (FANCL) | ENSP00000512662.1:n.*710A>G | |
| ENST00000696493.1:c.*893A>G (FANCL) | ENSP00000512663.1:n.*893A>G | |
| ENST00000696494.1:n.1077A>G (FANCL) | ||
| ENST00000696495.1:c.*791A>G (FANCL) | ENSP00000512664.1:n.*791A>G | |
| ENST00000696496.1:n.1584A>G (FANCL) | ||
| ENST00000696497.1:n.4342A>G (FANCL) | ||
| ENST00000696498.1:n.1804A>G (FANCL) | ||
| ENST00000696499.1:c.*482A>G (FANCL) | ENSP00000512665.1:n.*482A>G | |
| ENST00000696508.1:c.*600A>G (FANCL) | ENSP00000512674.1:n.*600A>G | |
| ENST00000696509.1:c.*922A>G (FANCL) | ENSP00000512675.1:n.*922A>G | |
| ENST00000696510.1:c.517A>G (FANCL) | ENSP00000512676.1:p.Arg173Gly | |
| ENST00000696527.1:c.*98A>G (FANCL) | ENSP00000512690.1:n.*98A>G | |
| ENST00000696528.1:c.*98A>G (FANCL) | ENSP00000512691.1:n.*98A>G | |
| ENST00000696529.1:n.908A>G (FANCL) | ||
| ENST00000696530.1:c.841A>G (FANCL) | ENSP00000512692.1:p.Arg281Gly | |
| ENST00000696531.1:c.*577A>G (FANCL) | ENSP00000512693.1:n.*577A>G | |
| ENST00000696532.1:n.2192A>G (FANCL) | ||
| ENST00000696542.1:n.983A>G (FANCL) | ||
| ENST00000696543.1:c.*98A>G (FANCL) | ENSP00000512703.1:n.*98A>G | |
| ENST00000696544.1:c.*98A>G (FANCL) | ENSP00000512704.1:n.*98A>G | |
| ENST00000696545.1:c.*713A>G (FANCL) | ENSP00000512705.1:n.*713A>G | |
| ENST00000696546.1:c.*824A>G (FANCL) | ENSP00000512706.1:n.*824A>G | |
| ENST00000696547.1:c.1033A>G (FANCL) | ENSP00000512707.1:p.Arg345Gly | |
| ENST00000696548.1:c.*1249A>G (FANCL) | ENSP00000512708.1:n.*1249A>G | |
| ENST00000696564.1:c.*98A>G (FANCL) | ENSP00000512722.1:n.*98A>G | |
| ENST00000696565.1:c.*98A>G (FANCL) | ENSP00000512723.1:n.*98A>G | |
| ENST00000696566.1:n.3633A>G (FANCL) | ||
| ENST00000696567.1:c.940A>G (FANCL) | ENSP00000512724.1:p.Arg314Gly | |
| ENST00000696568.1:n.471A>G (FANCL) | ||
| ENST00000696569.1:n.1154A>G (FANCL) | ||
| ENST00000696570.1:c.*367A>G (FANCL) | ENSP00000512725.1:n.*367A>G | |
| ENST00000696619.1:n.2601A>G (FANCL) | ||
| ENST00000696620.1:c.637A>G (FANCL) | ENSP00000512759.1:p.Arg213Gly | |
| ENST00000696621.1:c.*192A>G (FANCL) | ENSP00000512760.1:n.*192A>G | |
| ENST00000696622.1:n.2776A>G (FANCL) | ||
| ENST00000696623.1:n.1011A>G (FANCL) | ||
| ENST00000696624.1:c.976A>G (FANCL) | ENSP00000512761.1:p.Arg326Gly | |
| ENST00000696625.1:c.*495A>G (FANCL) | ENSP00000512762.1:n.*495A>G | |
| ENST00000696634.1:c.758A>G (FANCL) | ENSP00000512770.1:n.758A>G | |
| ENST00000696635.1:c.1021A>G (FANCL) | ENSP00000512771.1:p.Arg341Gly | |
| ENST00000696636.1:n.3497A>G (FANCL) | ||
| ENST00000696637.1:n.8118A>G (FANCL) | ||
| ENST00000696638.1:n.1060A>G (FANCL) | ||
| ENST00000696639.1:n.3123A>G (FANCL) | ||
| ENST00000233741.9:c.1045A>G (FANCL) MANE Select | ENSP00000233741.5:p.Arg349Gly | |
| ENST00000233741.8:c.1045A>G (FANCL) | ENSP00000233741.4:p.Arg349Gly | |
| ENST00000402135.7:c.1060A>G (FANCL) | ENSP00000385021.3:p.Arg354Gly | |
| ENST00000403295.7:c.961A>G (FANCL) | ENSP00000386097.3:p.Arg321Gly | |
| ENST00000403676.5:c.694A>G (FANCL) | ENSP00000384046.1:p.Arg232Gly | |
| ENST00000449070.5:c.868A>G (FANCL) | ENSP00000401280.1:p.Arg290Gly | |
| NM_001114636.1:c.1060A>G , LRG_501t1:c.1060A>G (FANCL) | NP_001108108.1:p.Arg354Gly | |
| NM_018062.3:c.1045A>G , LRG_501t2:c.1045A>G (FANCL) | NP_060532.2:p.Arg349Gly | |
| XM_005264395.2:c.1045A>G (FANCL) | XP_005264452.1:p.Arg349Gly | |
| XM_005264397.3:c.694A>G (FANCL) | XP_005264454.1:p.Arg232Gly | |
| XM_011532939.1:c.1105A>G (FANCL) | XP_011531241.1:p.Arg369Gly | |
| XM_011532940.1:c.1090A>G (FANCL) | XP_011531242.1:p.Arg364Gly | |
| XM_011532941.1:c.1105A>G (FANCL) | XP_011531243.1:p.Arg369Gly | |
| XM_011532942.1:c.1060A>G (FANCL) | XP_011531244.1:p.Arg354Gly | |
| XM_011532943.1:c.1306A>G (FANCL) | XP_011531245.1:p.Arg436Gly | |
| XM_011532944.1:c.754A>G (FANCL) | XP_011531246.1:p.Arg252Gly | |
| XM_011532945.1:c.709A>G (FANCL) | XP_011531247.1:p.Arg237Gly | |
| XR_939692.1:n.1044A>G (FANCL) | ||
| NR_156742.1:n.834A>G (FANCL) | ||
| XM_005264395.4:c.1045A>G (FANCL) | XP_005264452.1:p.Arg349Gly | |
| XM_005264540.4:c.*462T>C (VRK2) | XP_005264597.1:n.*462T>C | |
| XM_006712090.4:c.*839T>C (VRK2) | XP_006712153.1:n.*839T>C | |
| XM_006712092.4:c.*462T>C (VRK2) | XP_006712155.1:n.*462T>C | |
| XM_006712093.4:c.*462T>C (VRK2) | XP_006712156.1:n.*462T>C | |
| XM_011532939.3:c.1105A>G (FANCL) | XP_011531241.1:p.Arg369Gly | |
| XM_011532940.3:c.1090A>G (FANCL) | XP_011531242.1:p.Arg364Gly | |
| XM_011532941.2:c.1105A>G (FANCL) | XP_011531243.1:p.Arg369Gly | |
| XM_011532942.3:c.1060A>G (FANCL) | XP_011531244.1:p.Arg354Gly | |
| XM_011532944.2:c.754A>G (FANCL) | XP_011531246.1:p.Arg252Gly | |
| XM_011532945.2:c.709A>G (FANCL) | XP_011531247.1:p.Arg237Gly | |
| XM_011533092.3:c.*462T>C (VRK2) | XP_011531394.1:n.*462T>C | |
| XM_017004414.2:c.1090A>G (FANCL) | XP_016859903.1:p.Arg364Gly | |
| XM_017004416.1:c.694A>G (FANCL) | XP_016859905.1:p.Arg232Gly | |
| XM_017004858.2:c.*839T>C (VRK2) | XP_016860347.1:n.*839T>C | |
| XM_017004859.2:c.*462T>C (VRK2) | XP_016860348.1:n.*462T>C | |
| XM_017004860.2:c.*462T>C (VRK2) | XP_016860349.1:n.*462T>C | |
| XM_017004861.2:c.*462T>C (VRK2) | XP_016860350.1:n.*462T>C | |
| XM_017004862.2:c.*462T>C (VRK2) | XP_016860351.1:n.*462T>C | |
| XM_017004863.2:c.*462T>C (VRK2) | XP_016860352.1:n.*462T>C | |
| XM_017004864.2:c.*839T>C (VRK2) | XP_016860353.1:n.*839T>C | |
| XM_017004865.1:c.*847T>C (VRK2) | XP_016860354.1:n.*847T>C | |
| XM_017004866.1:c.*847T>C (VRK2) | XP_016860355.1:n.*847T>C | |
| XR_001738802.2:n.991A>G (FANCL) | ||
| XR_001738803.2:n.976A>G (FANCL) | ||
| XR_002959309.1:n.1687A>G (FANCL) | ||
| XR_939692.2:n.1036A>G (FANCL) | ||
| NM_001374615.1:c.1090A>G (FANCL) | NP_001361544.1:p.Arg364Gly | |
| NM_018062.4:c.1045A>G (FANCL) MANE Select | NP_060532.2:p.Arg349Gly | |
| NR_164659.1:n.926A>G (FANCL) |