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.58160152G>T , CM000664.2:g.58160152G>T | GRCh38 |
| NC_000002.11:g.58387287G>T , CM000664.1:g.58387287G>T | GRCh37 |
| NC_000002.10:g.58240791G>T | NCBI36 |
| NG_007418.1:g.86228C>A , LRG_501:g.86228C>A | |
| NG_029717.2:g.257412G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1063C>A (FANCL) | ENSP00000385021.3:p.Gln355Lys | |
| ENST00000403295.8:c.964C>A (FANCL) | ENSP00000386097.3:p.Gln322Lys | |
| ENST00000403676.6:c.*611C>A (FANCL) | ENSP00000384046.2:n.*611C>A | |
| ENST00000417361.2:c.*626C>A (FANCL) | ENSP00000389448.2:n.*626C>A | |
| ENST00000427708.7:c.1093C>A (FANCL) | ENSP00000400969.3:p.Gln365Lys | |
| ENST00000446381.6:c.604C>A (FANCL) | ENSP00000390991.2:p.Gln202Lys | |
| ENST00000449070.6:c.871C>A (FANCL) | ENSP00000401280.2:p.Gln291Lys | |
| ENST00000470506.2:n.1562C>A (FANCL) | ||
| ENST00000696305.1:c.991C>A (FANCL) | ENSP00000512543.1:p.Gln331Lys | |
| ENST00000696306.1:c.*938C>A (FANCL) | ENSP00000512544.1:n.*938C>A | |
| ENST00000696307.1:c.1033C>A (FANCL) | ENSP00000512545.1:p.Gln345Lys | |
| ENST00000696314.1:c.*101C>A (FANCL) | ENSP00000512552.1:n.*101C>A | |
| ENST00000696315.1:c.*611C>A (FANCL) | ENSP00000512553.1:n.*611C>A | |
| ENST00000696316.1:c.931C>A (FANCL) | ENSP00000512554.1:p.Gln311Lys | |
| ENST00000696317.1:c.*21C>A (FANCL) | ENSP00000512555.1:n.*21C>A | |
| ENST00000696318.1:c.*101C>A (FANCL) | ENSP00000512556.1:n.*101C>A | |
| ENST00000696319.1:c.1006C>A (FANCL) | ENSP00000512557.1:p.Gln336Lys | |
| ENST00000696320.1:n.2727C>A (FANCL) | ||
| ENST00000696324.1:c.*498C>A (FANCL) | ENSP00000512561.1:n.*498C>A | |
| ENST00000696325.1:n.4131C>A (FANCL) | ||
| ENST00000696326.1:c.1108C>A (FANCL) | ENSP00000512562.1:p.Gln370Lys | |
| ENST00000696338.1:n.1162C>A (FANCL) | ||
| ENST00000696339.1:n.2620C>A (FANCL) | ||
| ENST00000696340.1:n.3274C>A (FANCL) | ||
| ENST00000696341.1:n.1556C>A (FANCL) | ||
| ENST00000696342.1:c.*2278C>A (FANCL) | ENSP00000512569.1:n.*2278C>A | |
| ENST00000696343.1:n.2907C>A (FANCL) | ||
| ENST00000696344.1:c.*762C>A (FANCL) | ENSP00000512570.1:n.*762C>A | |
| ENST00000696358.1:n.3721C>A (FANCL) | ||
| ENST00000696359.1:n.3398C>A (FANCL) | ||
| ENST00000696360.1:n.1833C>A (FANCL) | ||
| ENST00000696361.1:c.*1051C>A (FANCL) | ENSP00000512579.1:n.*1051C>A | |
| ENST00000696362.1:c.*498C>A (FANCL) | ENSP00000512580.1:n.*498C>A | |
| ENST00000696363.1:n.2825C>A (FANCL) | ||
| ENST00000696364.1:n.1441C>A (FANCL) | ||
| ENST00000696371.1:c.1039C>A (FANCL) | ENSP00000512586.1:p.Gln347Lys | |
| ENST00000696372.1:n.2137C>A (FANCL) | ||
| ENST00000696373.1:c.*2278C>A (FANCL) | ENSP00000512587.1:n.*2278C>A | |
| ENST00000696374.1:c.*416C>A (FANCL) | ENSP00000512588.1:n.*416C>A | |
| ENST00000696375.1:n.7981C>A (FANCL) | ||
| ENST00000696376.1:n.6834C>A (FANCL) | ||
| ENST00000696378.1:c.*1066C>A (FANCL) | ENSP00000512589.1:n.*1066C>A | |
| ENST00000696394.1:n.4550C>A (FANCL) | ||
| ENST00000696395.1:n.4489C>A (FANCL) | ||
| ENST00000696396.1:n.2202C>A (FANCL) | ||
| ENST00000696397.1:n.3173C>A (FANCL) | ||
| ENST00000696398.1:c.*195C>A (FANCL) | ENSP00000512604.1:n.*195C>A | |
| ENST00000696399.1:n.2322C>A (FANCL) | ||
| ENST00000696400.1:c.*812C>A (FANCL) | ENSP00000512605.1:n.*812C>A | |
| ENST00000696409.1:c.*565C>A (FANCL) | ENSP00000512610.1:n.*565C>A | |
| ENST00000696410.1:c.*529C>A (FANCL) | ENSP00000512611.1:n.*529C>A | |
| ENST00000696411.1:n.753C>A (FANCL) | ||
| ENST00000696412.1:n.1547C>A (FANCL) | ||
| ENST00000696413.1:n.1050C>A (FANCL) | ||
| ENST00000696414.1:n.2094C>A (FANCL) | ||
| ENST00000696415.1:c.*21C>A (FANCL) | ENSP00000512612.1:n.*21C>A | |
| ENST00000696416.1:n.1056C>A (FANCL) | ||
| ENST00000696432.1:n.3507C>A (FANCL) | ||
| ENST00000696433.1:c.*101C>A (FANCL) | ENSP00000512627.1:n.*101C>A | |
| ENST00000696434.1:c.886C>A (FANCL) | ENSP00000512628.1:p.Gln296Lys | |
| ENST00000696435.1:c.*195C>A (FANCL) | ENSP00000512629.1:n.*195C>A | |
| ENST00000696436.1:n.1002C>A (FANCL) | ||
| ENST00000696437.1:n.1465C>A (FANCL) | ||
| ENST00000696438.1:c.*881C>A (FANCL) | ENSP00000512630.1:n.*881C>A | |
| ENST00000696439.1:n.3097C>A (FANCL) | ||
| ENST00000696440.1:n.2084C>A (FANCL) | ||
| ENST00000696454.1:c.*399C>A (FANCL) | ENSP00000512641.1:n.*399C>A | |
| ENST00000696455.1:c.*101C>A (FANCL) | ENSP00000512642.1:n.*101C>A | |
| ENST00000696456.1:n.558C>A (FANCL) | ||
| ENST00000696457.1:c.*1819C>A (FANCL) | ENSP00000512643.1:n.*1819C>A | |
| ENST00000696458.1:c.*21C>A (FANCL) | ENSP00000512644.1:n.*21C>A | |
| ENST00000696459.1:c.*483C>A (FANCL) | ENSP00000512645.1:n.*483C>A | |
| ENST00000696460.1:n.1545C>A (FANCL) | ||
| ENST00000696467.1:c.*544C>A (FANCL) | ENSP00000512648.1:n.*544C>A | |
| ENST00000696468.1:c.*540C>A (FANCL) | ENSP00000512649.1:n.*540C>A | |
| ENST00000696469.1:c.*195C>A (FANCL) | ENSP00000512650.1:n.*195C>A | |
| ENST00000696470.1:n.3216C>A (FANCL) | ||
| ENST00000696471.1:n.718C>A (FANCL) | ||
| ENST00000696472.1:c.*101C>A (FANCL) | ENSP00000512651.1:n.*101C>A | |
| ENST00000696473.1:c.*731C>A (FANCL) | ENSP00000512652.1:n.*731C>A | |
| ENST00000696474.1:n.924C>A (FANCL) | ||
| ENST00000696475.1:n.2556C>A (FANCL) | ||
| ENST00000696492.1:c.*713C>A (FANCL) | ENSP00000512662.1:n.*713C>A | |
| ENST00000696493.1:c.*896C>A (FANCL) | ENSP00000512663.1:n.*896C>A | |
| ENST00000696494.1:n.1080C>A (FANCL) | ||
| ENST00000696495.1:c.*794C>A (FANCL) | ENSP00000512664.1:n.*794C>A | |
| ENST00000696496.1:n.1587C>A (FANCL) | ||
| ENST00000696497.1:n.4345C>A (FANCL) | ||
| ENST00000696498.1:n.1807C>A (FANCL) | ||
| ENST00000696499.1:c.*485C>A (FANCL) | ENSP00000512665.1:n.*485C>A | |
| ENST00000696508.1:c.*603C>A (FANCL) | ENSP00000512674.1:n.*603C>A | |
| ENST00000696509.1:c.*925C>A (FANCL) | ENSP00000512675.1:n.*925C>A | |
| ENST00000696510.1:c.520C>A (FANCL) | ENSP00000512676.1:p.Gln174Lys | |
| ENST00000696527.1:c.*101C>A (FANCL) | ENSP00000512690.1:n.*101C>A | |
| ENST00000696528.1:c.*101C>A (FANCL) | ENSP00000512691.1:n.*101C>A | |
| ENST00000696529.1:n.911C>A (FANCL) | ||
| ENST00000696530.1:c.844C>A (FANCL) | ENSP00000512692.1:p.Gln282Lys | |
| ENST00000696531.1:c.*580C>A (FANCL) | ENSP00000512693.1:n.*580C>A | |
| ENST00000696532.1:n.2195C>A (FANCL) | ||
| ENST00000696542.1:n.986C>A (FANCL) | ||
| ENST00000696543.1:c.*101C>A (FANCL) | ENSP00000512703.1:n.*101C>A | |
| ENST00000696544.1:c.*101C>A (FANCL) | ENSP00000512704.1:n.*101C>A | |
| ENST00000696545.1:c.*716C>A (FANCL) | ENSP00000512705.1:n.*716C>A | |
| ENST00000696546.1:c.*827C>A (FANCL) | ENSP00000512706.1:n.*827C>A | |
| ENST00000696547.1:c.1036C>A (FANCL) | ENSP00000512707.1:p.Gln346Lys | |
| ENST00000696548.1:c.*1252C>A (FANCL) | ENSP00000512708.1:n.*1252C>A | |
| ENST00000696564.1:c.*101C>A (FANCL) | ENSP00000512722.1:n.*101C>A | |
| ENST00000696565.1:c.*101C>A (FANCL) | ENSP00000512723.1:n.*101C>A | |
| ENST00000696566.1:n.3636C>A (FANCL) | ||
| ENST00000696567.1:c.943C>A (FANCL) | ENSP00000512724.1:p.Gln315Lys | |
| ENST00000696568.1:n.474C>A (FANCL) | ||
| ENST00000696569.1:n.1157C>A (FANCL) | ||
| ENST00000696570.1:c.*370C>A (FANCL) | ENSP00000512725.1:n.*370C>A | |
| ENST00000696619.1:n.2604C>A (FANCL) | ||
| ENST00000696620.1:c.640C>A (FANCL) | ENSP00000512759.1:p.Gln214Lys | |
| ENST00000696621.1:c.*195C>A (FANCL) | ENSP00000512760.1:n.*195C>A | |
| ENST00000696622.1:n.2779C>A (FANCL) | ||
| ENST00000696623.1:n.1014C>A (FANCL) | ||
| ENST00000696624.1:c.979C>A (FANCL) | ENSP00000512761.1:p.Gln327Lys | |
| ENST00000696625.1:c.*498C>A (FANCL) | ENSP00000512762.1:n.*498C>A | |
| ENST00000696634.1:c.761C>A (FANCL) | ENSP00000512770.1:n.761C>A | |
| ENST00000696635.1:c.1024C>A (FANCL) | ENSP00000512771.1:p.Gln342Lys | |
| ENST00000696636.1:n.3500C>A (FANCL) | ||
| ENST00000696637.1:n.8121C>A (FANCL) | ||
| ENST00000696638.1:n.1063C>A (FANCL) | ||
| ENST00000696639.1:n.3126C>A (FANCL) | ||
| ENST00000233741.9:c.1048C>A (FANCL) MANE Select | ENSP00000233741.5:p.Gln350Lys | |
| ENST00000233741.8:c.1048C>A (FANCL) | ENSP00000233741.4:p.Gln350Lys | |
| ENST00000402135.7:c.1063C>A (FANCL) | ENSP00000385021.3:p.Gln355Lys | |
| ENST00000403295.7:c.964C>A (FANCL) | ENSP00000386097.3:p.Gln322Lys | |
| ENST00000403676.5:c.697C>A (FANCL) | ENSP00000384046.1:p.Gln233Lys | |
| ENST00000449070.5:c.871C>A (FANCL) | ENSP00000401280.1:p.Gln291Lys | |
| NM_001114636.1:c.1063C>A , LRG_501t1:c.1063C>A (FANCL) | NP_001108108.1:p.Gln355Lys | |
| NM_018062.3:c.1048C>A , LRG_501t2:c.1048C>A (FANCL) | NP_060532.2:p.Gln350Lys | |
| XM_005264395.2:c.1048C>A (FANCL) | XP_005264452.1:p.Gln350Lys | |
| XM_005264397.3:c.697C>A (FANCL) | XP_005264454.1:p.Gln233Lys | |
| XM_011532939.1:c.1108C>A (FANCL) | XP_011531241.1:p.Gln370Lys | |
| XM_011532940.1:c.1093C>A (FANCL) | XP_011531242.1:p.Gln365Lys | |
| XM_011532941.1:c.1108C>A (FANCL) | XP_011531243.1:p.Gln370Lys | |
| XM_011532942.1:c.1063C>A (FANCL) | XP_011531244.1:p.Gln355Lys | |
| XM_011532943.1:c.1309C>A (FANCL) | XP_011531245.1:p.Gln437Lys | |
| XM_011532944.1:c.757C>A (FANCL) | XP_011531246.1:p.Gln253Lys | |
| XM_011532945.1:c.712C>A (FANCL) | XP_011531247.1:p.Gln238Lys | |
| XR_939692.1:n.1047C>A (FANCL) | ||
| NR_156742.1:n.837C>A (FANCL) | ||
| XM_005264395.4:c.1048C>A (FANCL) | XP_005264452.1:p.Gln350Lys | |
| XM_005264540.4:c.*459G>T (VRK2) | XP_005264597.1:n.*459G>T | |
| XM_006712090.4:c.*836G>T (VRK2) | XP_006712153.1:n.*836G>T | |
| XM_006712092.4:c.*459G>T (VRK2) | XP_006712155.1:n.*459G>T | |
| XM_006712093.4:c.*459G>T (VRK2) | XP_006712156.1:n.*459G>T | |
| XM_011532939.3:c.1108C>A (FANCL) | XP_011531241.1:p.Gln370Lys | |
| XM_011532940.3:c.1093C>A (FANCL) | XP_011531242.1:p.Gln365Lys | |
| XM_011532941.2:c.1108C>A (FANCL) | XP_011531243.1:p.Gln370Lys | |
| XM_011532942.3:c.1063C>A (FANCL) | XP_011531244.1:p.Gln355Lys | |
| XM_011532944.2:c.757C>A (FANCL) | XP_011531246.1:p.Gln253Lys | |
| XM_011532945.2:c.712C>A (FANCL) | XP_011531247.1:p.Gln238Lys | |
| XM_011533092.3:c.*459G>T (VRK2) | XP_011531394.1:n.*459G>T | |
| XM_017004414.2:c.1093C>A (FANCL) | XP_016859903.1:p.Gln365Lys | |
| XM_017004416.1:c.697C>A (FANCL) | XP_016859905.1:p.Gln233Lys | |
| XM_017004858.2:c.*836G>T (VRK2) | XP_016860347.1:n.*836G>T | |
| XM_017004859.2:c.*459G>T (VRK2) | XP_016860348.1:n.*459G>T | |
| XM_017004860.2:c.*459G>T (VRK2) | XP_016860349.1:n.*459G>T | |
| XM_017004861.2:c.*459G>T (VRK2) | XP_016860350.1:n.*459G>T | |
| XM_017004862.2:c.*459G>T (VRK2) | XP_016860351.1:n.*459G>T | |
| XM_017004863.2:c.*459G>T (VRK2) | XP_016860352.1:n.*459G>T | |
| XM_017004864.2:c.*836G>T (VRK2) | XP_016860353.1:n.*836G>T | |
| XM_017004865.1:c.*844G>T (VRK2) | XP_016860354.1:n.*844G>T | |
| XM_017004866.1:c.*844G>T (VRK2) | XP_016860355.1:n.*844G>T | |
| XR_001738802.2:n.994C>A (FANCL) | ||
| XR_001738803.2:n.979C>A (FANCL) | ||
| XR_002959309.1:n.1690C>A (FANCL) | ||
| XR_939692.2:n.1039C>A (FANCL) | ||
| NM_001374615.1:c.1093C>A (FANCL) | NP_001361544.1:p.Gln365Lys | |
| NM_018062.4:c.1048C>A (FANCL) MANE Select | NP_060532.2:p.Gln350Lys | |
| NR_164659.1:n.929C>A (FANCL) |