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
ClinVar Variation Id:
336652
ClinVar RCV Id:
RCV000317720
dbSNP Id:
rs866675905
gnomAD v3:
2-58159600-T-C
gnomAD v4:
2-58159600-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58159600T>C , CM000664.2:g.58159600T>C | GRCh38 |
| NC_000002.11:g.58386735T>C , CM000664.1:g.58386735T>C | GRCh37 |
| NC_000002.10:g.58240239T>C | NCBI36 |
| NG_007418.1:g.86780A>G , LRG_501:g.86780A>G | |
| NG_029717.2:g.256860T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.*165A>G (FANCL) | ENSP00000385021.3:n.*165A>G | |
| ENST00000403295.8:c.*165A>G (FANCL) | ENSP00000386097.3:n.*165A>G | |
| ENST00000403676.6:c.*856A>G (FANCL) | ENSP00000384046.2:n.*856A>G | |
| ENST00000417361.2:c.*871A>G (FANCL) | ENSP00000389448.2:n.*871A>G | |
| ENST00000427708.7:c.*165A>G (FANCL) | ENSP00000400969.3:n.*165A>G | |
| ENST00000446381.6:c.*165A>G (FANCL) | ENSP00000390991.2:n.*165A>G | |
| ENST00000449070.6:c.*165A>G (FANCL) | ENSP00000401280.2:n.*165A>G | |
| ENST00000470506.2:n.1807A>G (FANCL) | ||
| ENST00000696305.1:c.*165A>G (FANCL) | ENSP00000512543.1:n.*165A>G | |
| ENST00000696306.1:c.*1183A>G (FANCL) | ENSP00000512544.1:n.*1183A>G | |
| ENST00000696314.1:c.*346A>G (FANCL) | ENSP00000512552.1:n.*346A>G | |
| ENST00000696315.1:c.*1163A>G (FANCL) | ENSP00000512553.1:n.*1163A>G | |
| ENST00000696316.1:c.*165A>G (FANCL) | ENSP00000512554.1:n.*165A>G | |
| ENST00000696317.1:c.*266A>G (FANCL) | ENSP00000512555.1:n.*266A>G | |
| ENST00000696318.1:c.*653A>G (FANCL) | ENSP00000512556.1:n.*653A>G | |
| ENST00000696319.1:c.*165A>G (FANCL) | ENSP00000512557.1:n.*165A>G | |
| ENST00000696320.1:n.2972A>G (FANCL) | ||
| ENST00000696324.1:c.*743A>G (FANCL) | ENSP00000512561.1:n.*743A>G | |
| ENST00000696325.1:n.4376A>G (FANCL) | ||
| ENST00000696326.1:c.*165A>G (FANCL) | ENSP00000512562.1:n.*165A>G | |
| ENST00000696338.1:n.1407A>G (FANCL) | ||
| ENST00000696339.1:n.3172A>G (FANCL) | ||
| ENST00000696340.1:n.3519A>G (FANCL) | ||
| ENST00000696341.1:n.1801A>G (FANCL) | ||
| ENST00000696342.1:c.*2830A>G (FANCL) | ENSP00000512569.1:n.*2830A>G | |
| ENST00000696343.1:n.3459A>G (FANCL) | ||
| ENST00000696344.1:c.*1007A>G (FANCL) | ENSP00000512570.1:n.*1007A>G | |
| ENST00000696358.1:n.3966A>G (FANCL) | ||
| ENST00000696359.1:n.3950A>G (FANCL) | ||
| ENST00000696360.1:n.2078A>G (FANCL) | ||
| ENST00000696361.1:c.*1296A>G (FANCL) | ENSP00000512579.1:n.*1296A>G | |
| ENST00000696362.1:c.*743A>G (FANCL) | ENSP00000512580.1:n.*743A>G | |
| ENST00000696363.1:n.3070A>G (FANCL) | ||
| ENST00000696364.1:n.1686A>G (FANCL) | ||
| ENST00000696371.1:c.*165A>G (FANCL) | ENSP00000512586.1:n.*165A>G | |
| ENST00000696372.1:n.2382A>G (FANCL) | ||
| ENST00000696373.1:c.*2523A>G (FANCL) | ENSP00000512587.1:n.*2523A>G | |
| ENST00000696374.1:c.*661A>G (FANCL) | ENSP00000512588.1:n.*661A>G | |
| ENST00000696375.1:n.8226A>G (FANCL) | ||
| ENST00000696376.1:n.7079A>G (FANCL) | ||
| ENST00000696378.1:c.*1311A>G (FANCL) | ENSP00000512589.1:n.*1311A>G | |
| ENST00000696394.1:n.4795A>G (FANCL) | ||
| ENST00000696395.1:n.4734A>G (FANCL) | ||
| ENST00000696396.1:n.2447A>G (FANCL) | ||
| ENST00000696397.1:n.3725A>G (FANCL) | ||
| ENST00000696398.1:c.*440A>G (FANCL) | ENSP00000512604.1:n.*440A>G | |
| ENST00000696399.1:n.2567A>G (FANCL) | ||
| ENST00000696400.1:c.*1057A>G (FANCL) | ENSP00000512605.1:n.*1057A>G | |
| ENST00000696409.1:c.*810A>G (FANCL) | ENSP00000512610.1:n.*810A>G | |
| ENST00000696410.1:c.*774A>G (FANCL) | ENSP00000512611.1:n.*774A>G | |
| ENST00000696411.1:n.998A>G (FANCL) | ||
| ENST00000696412.1:n.1792A>G (FANCL) | ||
| ENST00000696413.1:n.1602A>G (FANCL) | ||
| ENST00000696414.1:n.2339A>G (FANCL) | ||
| ENST00000696415.1:c.*266A>G (FANCL) | ENSP00000512612.1:n.*266A>G | |
| ENST00000696416.1:n.1608A>G (FANCL) | ||
| ENST00000696432.1:n.3752A>G (FANCL) | ||
| ENST00000696433.1:c.*346A>G (FANCL) | ENSP00000512627.1:n.*346A>G | |
| ENST00000696434.1:c.*165A>G (FANCL) | ENSP00000512628.1:n.*165A>G | |
| ENST00000696435.1:c.*440A>G (FANCL) | ENSP00000512629.1:n.*440A>G | |
| ENST00000696436.1:n.1247A>G (FANCL) | ||
| ENST00000696437.1:n.2017A>G (FANCL) | ||
| ENST00000696438.1:c.*1126A>G (FANCL) | ENSP00000512630.1:n.*1126A>G | |
| ENST00000696439.1:n.3342A>G (FANCL) | ||
| ENST00000696454.1:c.*644A>G (FANCL) | ENSP00000512641.1:n.*644A>G | |
| ENST00000696455.1:c.*346A>G (FANCL) | ENSP00000512642.1:n.*346A>G | |
| ENST00000696456.1:n.803A>G (FANCL) | ||
| ENST00000696457.1:c.*2064A>G (FANCL) | ENSP00000512643.1:n.*2064A>G | |
| ENST00000696458.1:c.*266A>G (FANCL) | ENSP00000512644.1:n.*266A>G | |
| ENST00000696459.1:c.*728A>G (FANCL) | ENSP00000512645.1:n.*728A>G | |
| ENST00000696467.1:c.*789A>G (FANCL) | ENSP00000512648.1:n.*789A>G | |
| ENST00000696468.1:c.*785A>G (FANCL) | ENSP00000512649.1:n.*785A>G | |
| ENST00000696469.1:c.*440A>G (FANCL) | ENSP00000512650.1:n.*440A>G | |
| ENST00000696470.1:n.3461A>G (FANCL) | ||
| ENST00000696471.1:n.963A>G (FANCL) | ||
| ENST00000696472.1:c.*346A>G (FANCL) | ENSP00000512651.1:n.*346A>G | |
| ENST00000696473.1:c.*976A>G (FANCL) | ENSP00000512652.1:n.*976A>G | |
| ENST00000696474.1:n.1169A>G (FANCL) | ||
| ENST00000696475.1:n.2801A>G (FANCL) | ||
| ENST00000696492.1:c.*958A>G (FANCL) | ENSP00000512662.1:n.*958A>G | |
| ENST00000696493.1:c.*1141A>G (FANCL) | ENSP00000512663.1:n.*1141A>G | |
| ENST00000696494.1:n.1325A>G (FANCL) | ||
| ENST00000696495.1:c.*1039A>G (FANCL) | ENSP00000512664.1:n.*1039A>G | |
| ENST00000696496.1:n.1832A>G (FANCL) | ||
| ENST00000696497.1:n.4590A>G (FANCL) | ||
| ENST00000696498.1:n.2052A>G (FANCL) | ||
| ENST00000696499.1:c.*730A>G (FANCL) | ENSP00000512665.1:n.*730A>G | |
| ENST00000696508.1:c.*848A>G (FANCL) | ENSP00000512674.1:n.*848A>G | |
| ENST00000696509.1:c.*1170A>G (FANCL) | ENSP00000512675.1:n.*1170A>G | |
| ENST00000696510.1:c.*165A>G (FANCL) | ENSP00000512676.1:n.*165A>G | |
| ENST00000696527.1:c.*653A>G (FANCL) | ENSP00000512690.1:n.*653A>G | |
| ENST00000696528.1:c.*346A>G (FANCL) | ENSP00000512691.1:n.*346A>G | |
| ENST00000696529.1:n.1156A>G (FANCL) | ||
| ENST00000696532.1:n.2440A>G (FANCL) | ||
| ENST00000696542.1:n.1231A>G (FANCL) | ||
| ENST00000696543.1:c.*346A>G (FANCL) | ENSP00000512703.1:n.*346A>G | |
| ENST00000696544.1:c.*346A>G (FANCL) | ENSP00000512704.1:n.*346A>G | |
| ENST00000696545.1:c.*961A>G (FANCL) | ENSP00000512705.1:n.*961A>G | |
| ENST00000696546.1:c.*1072A>G (FANCL) | ENSP00000512706.1:n.*1072A>G | |
| ENST00000696547.1:c.*165A>G (FANCL) | ENSP00000512707.1:n.*165A>G | |
| ENST00000696548.1:c.*1497A>G (FANCL) | ENSP00000512708.1:n.*1497A>G | |
| ENST00000696564.1:c.*346A>G (FANCL) | ENSP00000512722.1:n.*346A>G | |
| ENST00000696565.1:c.*346A>G (FANCL) | ENSP00000512723.1:n.*346A>G | |
| ENST00000696566.1:n.3881A>G (FANCL) | ||
| ENST00000696567.1:c.*165A>G (FANCL) | ENSP00000512724.1:n.*165A>G | |
| ENST00000696568.1:n.719A>G (FANCL) | ||
| ENST00000696569.1:n.1402A>G (FANCL) | ||
| ENST00000696619.1:n.2849A>G (FANCL) | ||
| ENST00000696620.1:c.*165A>G (FANCL) | ENSP00000512759.1:n.*165A>G | |
| ENST00000696621.1:c.*440A>G (FANCL) | ENSP00000512760.1:n.*440A>G | |
| ENST00000696622.1:n.3024A>G (FANCL) | ||
| ENST00000696623.1:n.1259A>G (FANCL) | ||
| ENST00000696624.1:c.*165A>G (FANCL) | ENSP00000512761.1:n.*165A>G | |
| ENST00000696625.1:c.*743A>G (FANCL) | ENSP00000512762.1:n.*743A>G | |
| ENST00000696634.1:c.1006A>G (FANCL) | ENSP00000512770.1:n.1006A>G | |
| ENST00000696635.1:c.*165A>G (FANCL) | ENSP00000512771.1:n.*165A>G | |
| ENST00000696636.1:n.4052A>G (FANCL) | ||
| ENST00000696637.1:n.8366A>G (FANCL) | ||
| ENST00000696638.1:n.1308A>G (FANCL) | ||
| ENST00000696639.1:n.3678A>G (FANCL) | ||
| ENST00000233741.9:c.*165A>G (FANCL) MANE Select | ENSP00000233741.5:n.*165A>G | |
| ENST00000340157.9:c.1434T>C (VRK2) MANE Select | ENSP00000342381.4:p.Thr478= | |
| ENST00000648897.1:c.*284T>C (VRK2) | ENSP00000497378.1:n.*284T>C | |
| ENST00000233741.8:c.*165A>G (FANCL) | ENSP00000233741.4:n.*165A>G | |
| ENST00000340157.8:c.1434T>C (VRK2) | ENSP00000342381.4:p.Thr478= | |
| ENST00000402135.7:c.*165A>G (FANCL) | ENSP00000385021.3:n.*165A>G | |
| ENST00000403295.7:c.*165A>G (FANCL) | ENSP00000386097.3:n.*165A>G | |
| ENST00000412104.6:c.1080T>C (VRK2) | ENSP00000404156.3:p.Thr360= | |
| ENST00000417641.6:c.*292T>C (VRK2) | ENSP00000402375.2:n.*292T>C | |
| ENST00000432057.2:c.*1391T>C (VRK2) | ENSP00000400006.1:n.*1391T>C | |
| ENST00000435505.6:c.1434T>C (VRK2) | ENSP00000408002.2:p.Thr478= | |
| ENST00000440705.6:c.1365T>C (VRK2) | ENSP00000398323.2:p.Thr455= | |
| NM_001114636.1:c.*165A>G , LRG_501t1:c.*165A>G (FANCL) | NP_001108108.1:n.*165A>G | |
| NM_001130480.2:c.1434T>C (VRK2) | NP_001123952.1:p.Thr478= | |
| NM_001130481.2:c.1434T>C (VRK2) | NP_001123953.1:p.Thr478= | |
| NM_001130482.2:c.1365T>C (VRK2) | NP_001123954.1:p.Thr455= | |
| NM_001130483.2:c.*292T>C (VRK2) | NP_001123955.1:n.*292T>C | |
| NM_001288836.1:c.1080T>C (VRK2) | NP_001275765.1:p.Thr360= | |
| NM_001288837.1:c.1434T>C (VRK2) | NP_001275766.1:p.Thr478= | |
| NM_001288838.1:c.*292T>C (VRK2) | NP_001275767.1:n.*292T>C | |
| NM_001288839.1:c.1080T>C (VRK2) | NP_001275768.1:p.Thr360= | |
| NM_006296.6:c.1434T>C (VRK2) | NP_006287.2:p.Thr478= | |
| NM_018062.3:c.*165A>G , LRG_501t2:c.*165A>G (FANCL) | NP_060532.2:n.*165A>G | |
| XM_005264397.3:c.*165A>G (FANCL) | XP_005264454.1:n.*165A>G | |
| XM_005264540.3:c.1434T>C (VRK2) | XP_005264597.1:p.Thr478= | |
| XM_005264541.2:c.1080T>C (VRK2) | XP_005264598.1:p.Thr360= | |
| XM_006712090.2:c.*284T>C (VRK2) | XP_006712153.1:n.*284T>C | |
| XM_006712091.2:c.*292T>C (VRK2) | XP_006712154.1:n.*292T>C | |
| XM_006712092.2:c.1080T>C (VRK2) | XP_006712155.1:p.Thr360= | |
| XM_006712093.2:c.1080T>C (VRK2) | XP_006712156.1:p.Thr360= | |
| XM_011532941.1:c.*165A>G (FANCL) | XP_011531243.1:n.*165A>G | |
| XM_011533092.1:c.1434T>C (VRK2) | XP_011531394.1:p.Thr478= | |
| XM_011533093.1:c.1080T>C (VRK2) | XP_011531395.1:p.Thr360= | |
| XM_011533094.1:c.1080T>C (VRK2) | XP_011531396.1:p.Thr360= | |
| XR_939692.1:n.1292A>G (FANCL) | ||
| NR_156742.1:n.1082A>G (FANCL) | ||
| XM_005264395.4:c.*448A>G (FANCL) | XP_005264452.1:n.*448A>G | |
| XM_005264540.4:c.1434T>C (VRK2) | XP_005264597.1:p.Thr478= | |
| XM_006712090.4:c.*284T>C (VRK2) | XP_006712153.1:n.*284T>C | |
| XM_006712091.4:c.*292T>C (VRK2) | XP_006712154.1:n.*292T>C | |
| XM_006712092.4:c.1080T>C (VRK2) | XP_006712155.1:p.Thr360= | |
| XM_006712093.4:c.1080T>C (VRK2) | XP_006712156.1:p.Thr360= | |
| XM_011532939.3:c.*448A>G (FANCL) | XP_011531241.1:n.*448A>G | |
| XM_011532940.3:c.*448A>G (FANCL) | XP_011531242.1:n.*448A>G | |
| XM_011532941.2:c.*165A>G (FANCL) | XP_011531243.1:n.*165A>G | |
| XM_011532942.3:c.*448A>G (FANCL) | XP_011531244.1:n.*448A>G | |
| XM_011532944.2:c.*448A>G (FANCL) | XP_011531246.1:n.*448A>G | |
| XM_011532945.2:c.*448A>G (FANCL) | XP_011531247.1:n.*448A>G | |
| XM_011533092.3:c.1434T>C (VRK2) | XP_011531394.1:p.Thr478= | |
| XM_017004414.2:c.*165A>G (FANCL) | XP_016859903.1:n.*165A>G | |
| XM_017004416.1:c.*448A>G (FANCL) | XP_016859905.1:n.*448A>G | |
| XM_017004858.2:c.*284T>C (VRK2) | XP_016860347.1:n.*284T>C | |
| XM_017004859.2:c.1080T>C (VRK2) | XP_016860348.1:p.Thr360= | |
| XM_017004860.2:c.1080T>C (VRK2) | XP_016860349.1:p.Thr360= | |
| XM_017004861.2:c.1080T>C (VRK2) | XP_016860350.1:p.Thr360= | |
| XM_017004862.2:c.1080T>C (VRK2) | XP_016860351.1:p.Thr360= | |
| XM_017004863.2:c.1080T>C (VRK2) | XP_016860352.1:p.Thr360= | |
| XM_017004864.2:c.*284T>C (VRK2) | XP_016860353.1:n.*284T>C | |
| XM_017004865.1:c.*292T>C (VRK2) | XP_016860354.1:n.*292T>C | |
| XM_017004866.1:c.*292T>C (VRK2) | XP_016860355.1:n.*292T>C | |
| XR_001738802.2:n.1239A>G (FANCL) | ||
| XR_001738803.2:n.1224A>G (FANCL) | ||
| XR_002959309.1:n.1935A>G (FANCL) | ||
| XR_939692.2:n.1284A>G (FANCL) | ||
| NM_001374615.1:c.*165A>G (FANCL) | NP_001361544.1:n.*165A>G | |
| NM_018062.4:c.*165A>G (FANCL) MANE Select | NP_060532.2:n.*165A>G | |
| NR_164659.1:n.1174A>G (FANCL) | ||
| NM_001288837.2:c.1434T>C (VRK2) | NP_001275766.1:p.Thr478= | |
| NM_001288838.2:c.*292T>C (VRK2) | NP_001275767.1:n.*292T>C | |
| NM_001288839.2:c.1080T>C (VRK2) | NP_001275768.1:p.Thr360= | |
| NM_006296.7:c.1434T>C (VRK2) MANE Select | NP_006287.2:p.Thr478= |