Linked Data
ClinVar Variation Id:
257495
dbSNP Id:
rs848291
ExAC:
2:58388696 A / G
gnomAD v2:
2-58388696-A-G
gnomAD v3:
2-58161561-A-G
gnomAD v4:
2-58161561-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58161561A>G , CM000664.2:g.58161561A>G | GRCh38 |
| NC_000002.11:g.58388696A>G , CM000664.1:g.58388696A>G | GRCh37 |
| NC_000002.10:g.58242200A>G | NCBI36 |
| NG_007418.1:g.84819T>C , LRG_501:g.84819T>C | |
| NG_029717.2:g.258821A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.996T>C (FANCL) | ENSP00000385021.3:p.Ser332= | |
| ENST00000403295.8:c.897T>C (FANCL) | ENSP00000386097.3:p.Ser299= | |
| ENST00000403676.6:c.*544T>C (FANCL) | ENSP00000384046.2:n.*544T>C | |
| ENST00000417361.2:c.*559T>C (FANCL) | ENSP00000389448.2:n.*559T>C | |
| ENST00000427708.7:c.1026T>C (FANCL) | ENSP00000400969.3:p.Ser342= | |
| ENST00000446381.6:c.537T>C (FANCL) | ENSP00000390991.2:p.Ser179= | |
| ENST00000449070.6:c.804T>C (FANCL) | ENSP00000401280.2:p.Ser268= | |
| ENST00000470506.2:n.1495T>C (FANCL) | ||
| ENST00000696305.1:c.924T>C (FANCL) | ENSP00000512543.1:p.Ser308= | |
| ENST00000696306.1:c.*871T>C (FANCL) | ENSP00000512544.1:n.*871T>C | |
| ENST00000696307.1:c.966T>C (FANCL) | ENSP00000512545.1:p.Ser322= | |
| ENST00000696314.1:c.*34T>C (FANCL) | ENSP00000512552.1:n.*34T>C | |
| ENST00000696315.1:c.*544T>C (FANCL) | ENSP00000512553.1:n.*544T>C | |
| ENST00000696316.1:c.903+1305T>C (FANCL) | ENSP00000512554.1:n.903+1305T>C | |
| ENST00000696317.1:c.899T>C (FANCL) | ENSP00000512555.1:p.Leu300Pro | |
| ENST00000696318.1:c.*34T>C (FANCL) | ENSP00000512556.1:n.*34T>C | |
| ENST00000696319.1:c.939T>C (FANCL) | ENSP00000512557.1:p.Ser313= | |
| ENST00000696320.1:n.2660T>C (FANCL) | ||
| ENST00000696324.1:c.*431T>C (FANCL) | ENSP00000512561.1:n.*431T>C | |
| ENST00000696325.1:n.4064T>C (FANCL) | ||
| ENST00000696326.1:c.1041T>C (FANCL) | ENSP00000512562.1:p.Ser347= | |
| ENST00000696338.1:n.1095T>C (FANCL) | ||
| ENST00000696339.1:n.2553T>C (FANCL) | ||
| ENST00000696340.1:n.3207T>C (FANCL) | ||
| ENST00000696341.1:n.1489T>C (FANCL) | ||
| ENST00000696342.1:c.*2211T>C (FANCL) | ENSP00000512569.1:n.*2211T>C | |
| ENST00000696343.1:n.2840T>C (FANCL) | ||
| ENST00000696344.1:c.*695T>C (FANCL) | ENSP00000512570.1:n.*695T>C | |
| ENST00000696358.1:n.3654T>C (FANCL) | ||
| ENST00000696359.1:n.3331T>C (FANCL) | ||
| ENST00000696360.1:n.1766T>C (FANCL) | ||
| ENST00000696361.1:c.*984T>C (FANCL) | ENSP00000512579.1:n.*984T>C | |
| ENST00000696362.1:c.*431T>C (FANCL) | ENSP00000512580.1:n.*431T>C | |
| ENST00000696363.1:n.2758T>C (FANCL) | ||
| ENST00000696364.1:n.1374T>C (FANCL) | ||
| ENST00000696371.1:c.972T>C (FANCL) | ENSP00000512586.1:p.Ser324= | |
| ENST00000696372.1:n.2070T>C (FANCL) | ||
| ENST00000696373.1:c.*2211T>C (FANCL) | ENSP00000512587.1:n.*2211T>C | |
| ENST00000696374.1:c.*349T>C (FANCL) | ENSP00000512588.1:n.*349T>C | |
| ENST00000696375.1:n.7914T>C (FANCL) | ||
| ENST00000696376.1:n.6767T>C (FANCL) | ||
| ENST00000696378.1:c.*999T>C (FANCL) | ENSP00000512589.1:n.*999T>C | |
| ENST00000696394.1:n.4483T>C (FANCL) | ||
| ENST00000696395.1:n.4422T>C (FANCL) | ||
| ENST00000696396.1:n.2135T>C (FANCL) | ||
| ENST00000696397.1:n.3106T>C (FANCL) | ||
| ENST00000696398.1:c.*128T>C (FANCL) | ENSP00000512604.1:n.*128T>C | |
| ENST00000696399.1:n.2255T>C (FANCL) | ||
| ENST00000696400.1:c.*745T>C (FANCL) | ENSP00000512605.1:n.*745T>C | |
| ENST00000696401.1:n.917T>C (FANCL) | ||
| ENST00000696409.1:c.*498T>C (FANCL) | ENSP00000512610.1:n.*498T>C | |
| ENST00000696410.1:c.*462T>C (FANCL) | ENSP00000512611.1:n.*462T>C | |
| ENST00000696411.1:n.686T>C (FANCL) | ||
| ENST00000696412.1:n.1480T>C (FANCL) | ||
| ENST00000696413.1:n.983T>C (FANCL) | ||
| ENST00000696414.1:n.2027T>C (FANCL) | ||
| ENST00000696415.1:c.914T>C (FANCL) | ENSP00000512612.1:p.Leu305Pro | |
| ENST00000696416.1:n.989T>C (FANCL) | ||
| ENST00000696432.1:n.3440T>C (FANCL) | ||
| ENST00000696433.1:c.*34T>C (FANCL) | ENSP00000512627.1:n.*34T>C | |
| ENST00000696434.1:c.819T>C (FANCL) | ENSP00000512628.1:p.Ser273= | |
| ENST00000696435.1:c.*128T>C (FANCL) | ENSP00000512629.1:n.*128T>C | |
| ENST00000696436.1:n.935T>C (FANCL) | ||
| ENST00000696437.1:n.1398T>C (FANCL) | ||
| ENST00000696438.1:c.*814T>C (FANCL) | ENSP00000512630.1:n.*814T>C | |
| ENST00000696439.1:n.3030T>C (FANCL) | ||
| ENST00000696440.1:n.2017T>C (FANCL) | ||
| ENST00000696454.1:c.*332T>C (FANCL) | ENSP00000512641.1:n.*332T>C | |
| ENST00000696455.1:c.*34T>C (FANCL) | ENSP00000512642.1:n.*34T>C | |
| ENST00000696456.1:n.491T>C (FANCL) | ||
| ENST00000696457.1:c.*1752T>C (FANCL) | ENSP00000512643.1:n.*1752T>C | |
| ENST00000696458.1:c.842T>C (FANCL) | ENSP00000512644.1:p.Leu281Pro | |
| ENST00000696459.1:c.*416T>C (FANCL) | ENSP00000512645.1:n.*416T>C | |
| ENST00000696460.1:n.1478T>C (FANCL) | ||
| ENST00000696467.1:c.*477T>C (FANCL) | ENSP00000512648.1:n.*477T>C | |
| ENST00000696468.1:c.*473T>C (FANCL) | ENSP00000512649.1:n.*473T>C | |
| ENST00000696469.1:c.*128T>C (FANCL) | ENSP00000512650.1:n.*128T>C | |
| ENST00000696470.1:n.3149T>C (FANCL) | ||
| ENST00000696471.1:n.651T>C (FANCL) | ||
| ENST00000696472.1:c.*34T>C (FANCL) | ENSP00000512651.1:n.*34T>C | |
| ENST00000696473.1:c.*664T>C (FANCL) | ENSP00000512652.1:n.*664T>C | |
| ENST00000696474.1:n.857T>C (FANCL) | ||
| ENST00000696475.1:n.2489T>C (FANCL) | ||
| ENST00000696492.1:c.*646T>C (FANCL) | ENSP00000512662.1:n.*646T>C | |
| ENST00000696493.1:c.*829T>C (FANCL) | ENSP00000512663.1:n.*829T>C | |
| ENST00000696494.1:n.1013T>C (FANCL) | ||
| ENST00000696495.1:c.*727T>C (FANCL) | ENSP00000512664.1:n.*727T>C | |
| ENST00000696496.1:n.1520T>C (FANCL) | ||
| ENST00000696497.1:n.4278T>C (FANCL) | ||
| ENST00000696498.1:n.1740T>C (FANCL) | ||
| ENST00000696499.1:c.*418T>C (FANCL) | ENSP00000512665.1:n.*418T>C | |
| ENST00000696508.1:c.*536T>C (FANCL) | ENSP00000512674.1:n.*536T>C | |
| ENST00000696509.1:c.*858T>C (FANCL) | ENSP00000512675.1:n.*858T>C | |
| ENST00000696510.1:c.453T>C (FANCL) | ENSP00000512676.1:p.Ser151= | |
| ENST00000696527.1:c.*34T>C (FANCL) | ENSP00000512690.1:n.*34T>C | |
| ENST00000696528.1:c.*34T>C (FANCL) | ENSP00000512691.1:n.*34T>C | |
| ENST00000696529.1:n.844T>C (FANCL) | ||
| ENST00000696530.1:c.777T>C (FANCL) | ENSP00000512692.1:p.Ser259= | |
| ENST00000696531.1:c.*513T>C (FANCL) | ENSP00000512693.1:n.*513T>C | |
| ENST00000696532.1:n.2128T>C (FANCL) | ||
| ENST00000696542.1:n.919T>C (FANCL) | ||
| ENST00000696543.1:c.*34T>C (FANCL) | ENSP00000512703.1:n.*34T>C | |
| ENST00000696544.1:c.*34T>C (FANCL) | ENSP00000512704.1:n.*34T>C | |
| ENST00000696545.1:c.*649T>C (FANCL) | ENSP00000512705.1:n.*649T>C | |
| ENST00000696546.1:c.*760T>C (FANCL) | ENSP00000512706.1:n.*760T>C | |
| ENST00000696547.1:c.969T>C (FANCL) | ENSP00000512707.1:p.Ser323= | |
| ENST00000696548.1:c.*1185T>C (FANCL) | ENSP00000512708.1:n.*1185T>C | |
| ENST00000696564.1:c.*34T>C (FANCL) | ENSP00000512722.1:n.*34T>C | |
| ENST00000696565.1:c.*34T>C (FANCL) | ENSP00000512723.1:n.*34T>C | |
| ENST00000696566.1:n.3569T>C (FANCL) | ||
| ENST00000696567.1:c.876T>C (FANCL) | ENSP00000512724.1:p.Ser292= | |
| ENST00000696569.1:n.1090T>C (FANCL) | ||
| ENST00000696570.1:c.*303T>C (FANCL) | ENSP00000512725.1:n.*303T>C | |
| ENST00000696619.1:n.2537T>C (FANCL) | ||
| ENST00000696620.1:c.573T>C (FANCL) | ENSP00000512759.1:p.Ser191= | |
| ENST00000696621.1:c.*128T>C (FANCL) | ENSP00000512760.1:n.*128T>C | |
| ENST00000696622.1:n.2712T>C (FANCL) | ||
| ENST00000696623.1:n.947T>C (FANCL) | ||
| ENST00000696624.1:c.912T>C (FANCL) | ENSP00000512761.1:p.Ser304= | |
| ENST00000696625.1:c.*431T>C (FANCL) | ENSP00000512762.1:n.*431T>C | |
| ENST00000696634.1:c.694T>C (FANCL) | ENSP00000512770.1:n.694T>C | |
| ENST00000696635.1:c.957T>C (FANCL) | ENSP00000512771.1:p.Ser319= | |
| ENST00000696636.1:n.3433T>C (FANCL) | ||
| ENST00000696637.1:n.8054T>C (FANCL) | ||
| ENST00000696638.1:n.996T>C (FANCL) | ||
| ENST00000696639.1:n.3059T>C (FANCL) | ||
| ENST00000233741.9:c.981T>C (FANCL) MANE Select | ENSP00000233741.5:p.Ser327= | |
| ENST00000233741.8:c.981T>C (FANCL) | ENSP00000233741.4:p.Ser327= | |
| ENST00000402135.7:c.996T>C (FANCL) | ENSP00000385021.3:p.Ser332= | |
| ENST00000403295.7:c.897T>C (FANCL) | ENSP00000386097.3:p.Ser299= | |
| ENST00000403676.5:c.630T>C (FANCL) | ENSP00000384046.1:p.Ser210= | |
| ENST00000449070.5:c.804T>C (FANCL) | ENSP00000401280.1:p.Ser268= | |
| NM_001114636.1:c.996T>C , LRG_501t1:c.996T>C (FANCL) | NP_001108108.1:p.Ser332= | |
| NM_018062.3:c.981T>C , LRG_501t2:c.981T>C (FANCL) | NP_060532.2:p.Ser327= | |
| XM_005264395.2:c.981T>C (FANCL) | XP_005264452.1:p.Ser327= | |
| XM_005264397.3:c.630T>C (FANCL) | XP_005264454.1:p.Ser210= | |
| XM_011532939.1:c.1041T>C (FANCL) | XP_011531241.1:p.Ser347= | |
| XM_011532940.1:c.1026T>C (FANCL) | XP_011531242.1:p.Ser342= | |
| XM_011532941.1:c.1041T>C (FANCL) | XP_011531243.1:p.Ser347= | |
| XM_011532942.1:c.996T>C (FANCL) | XP_011531244.1:p.Ser332= | |
| XM_011532943.1:c.1242T>C (FANCL) | XP_011531245.1:p.Ser414= | |
| XM_011532944.1:c.690T>C (FANCL) | XP_011531246.1:p.Ser230= | |
| XM_011532945.1:c.645T>C (FANCL) | XP_011531247.1:p.Ser215= | |
| XR_939692.1:n.980T>C (FANCL) | ||
| NR_156742.1:n.770T>C (FANCL) | ||
| XM_005264395.4:c.981T>C (FANCL) | XP_005264452.1:p.Ser327= | |
| XM_005264540.4:c.*1868A>G (VRK2) | XP_005264597.1:n.*1868A>G | |
| XM_006712092.4:c.*1868A>G (VRK2) | XP_006712155.1:n.*1868A>G | |
| XM_006712093.4:c.*1868A>G (VRK2) | XP_006712156.1:n.*1868A>G | |
| XM_011532939.3:c.1041T>C (FANCL) | XP_011531241.1:p.Ser347= | |
| XM_011532940.3:c.1026T>C (FANCL) | XP_011531242.1:p.Ser342= | |
| XM_011532941.2:c.1041T>C (FANCL) | XP_011531243.1:p.Ser347= | |
| XM_011532942.3:c.996T>C (FANCL) | XP_011531244.1:p.Ser332= | |
| XM_011532944.2:c.690T>C (FANCL) | XP_011531246.1:p.Ser230= | |
| XM_011532945.2:c.645T>C (FANCL) | XP_011531247.1:p.Ser215= | |
| XM_011533092.3:c.*1868A>G (VRK2) | XP_011531394.1:n.*1868A>G | |
| XM_017004414.2:c.1026T>C (FANCL) | XP_016859903.1:p.Ser342= | |
| XM_017004416.1:c.630T>C (FANCL) | XP_016859905.1:p.Ser210= | |
| XM_017004859.2:c.*1868A>G (VRK2) | XP_016860348.1:n.*1868A>G | |
| XM_017004860.2:c.*1868A>G (VRK2) | XP_016860349.1:n.*1868A>G | |
| XM_017004861.2:c.*1868A>G (VRK2) | XP_016860350.1:n.*1868A>G | |
| XM_017004862.2:c.*1868A>G (VRK2) | XP_016860351.1:n.*1868A>G | |
| XM_017004863.2:c.*1868A>G (VRK2) | XP_016860352.1:n.*1868A>G | |
| XM_017004864.2:c.*2245A>G (VRK2) | XP_016860353.1:n.*2245A>G | |
| XM_017004865.1:c.*2253A>G (VRK2) | XP_016860354.1:n.*2253A>G | |
| XM_017004866.1:c.*2253A>G (VRK2) | XP_016860355.1:n.*2253A>G | |
| XR_001738802.2:n.927T>C (FANCL) | ||
| XR_001738803.2:n.912T>C (FANCL) | ||
| XR_002959309.1:n.1623T>C (FANCL) | ||
| XR_939692.2:n.972T>C (FANCL) | ||
| NM_001374615.1:c.1026T>C (FANCL) | NP_001361544.1:p.Ser342= | |
| NM_018062.4:c.981T>C (FANCL) MANE Select | NP_060532.2:p.Ser327= | |
| NR_164659.1:n.862T>C (FANCL) |