Linked Data
ClinVar Variation Id:
1378618
ClinVar RCV Id:
RCV001890201
dbSNP Id:
rs748875030
ExAC:
2:58387257 G / C
gnomAD v2:
2-58387257-G-C
gnomAD v4:
2-58160122-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58160122G>C , CM000664.2:g.58160122G>C | GRCh38 |
| NC_000002.11:g.58387257G>C , CM000664.1:g.58387257G>C | GRCh37 |
| NC_000002.10:g.58240761G>C | NCBI36 |
| NG_007418.1:g.86258C>G , LRG_501:g.86258C>G | |
| NG_029717.2:g.257382G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1093C>G (FANCL) | ENSP00000385021.3:p.Pro365Ala | |
| ENST00000403295.8:c.994C>G (FANCL) | ENSP00000386097.3:p.Pro332Ala | |
| ENST00000403676.6:c.*641C>G (FANCL) | ENSP00000384046.2:n.*641C>G | |
| ENST00000417361.2:c.*656C>G (FANCL) | ENSP00000389448.2:n.*656C>G | |
| ENST00000427708.7:c.1123C>G (FANCL) | ENSP00000400969.3:p.Pro375Ala | |
| ENST00000446381.6:c.634C>G (FANCL) | ENSP00000390991.2:p.Pro212Ala | |
| ENST00000449070.6:c.901C>G (FANCL) | ENSP00000401280.2:p.Pro301Ala | |
| ENST00000470506.2:n.1592C>G (FANCL) | ||
| ENST00000696305.1:c.1021C>G (FANCL) | ENSP00000512543.1:p.Pro341Ala | |
| ENST00000696306.1:c.*968C>G (FANCL) | ENSP00000512544.1:n.*968C>G | |
| ENST00000696307.1:c.1063C>G (FANCL) | ENSP00000512545.1:p.Pro355Ala | |
| ENST00000696314.1:c.*131C>G (FANCL) | ENSP00000512552.1:n.*131C>G | |
| ENST00000696315.1:c.*641C>G (FANCL) | ENSP00000512553.1:n.*641C>G | |
| ENST00000696316.1:c.961C>G (FANCL) | ENSP00000512554.1:p.Pro321Ala | |
| ENST00000696317.1:c.*51C>G (FANCL) | ENSP00000512555.1:n.*51C>G | |
| ENST00000696318.1:c.*131C>G (FANCL) | ENSP00000512556.1:n.*131C>G | |
| ENST00000696319.1:c.1036C>G (FANCL) | ENSP00000512557.1:p.Pro346Ala | |
| ENST00000696320.1:n.2757C>G (FANCL) | ||
| ENST00000696324.1:c.*528C>G (FANCL) | ENSP00000512561.1:n.*528C>G | |
| ENST00000696325.1:n.4161C>G (FANCL) | ||
| ENST00000696326.1:c.1138C>G (FANCL) | ENSP00000512562.1:p.Pro380Ala | |
| ENST00000696338.1:n.1192C>G (FANCL) | ||
| ENST00000696339.1:n.2650C>G (FANCL) | ||
| ENST00000696340.1:n.3304C>G (FANCL) | ||
| ENST00000696341.1:n.1586C>G (FANCL) | ||
| ENST00000696342.1:c.*2308C>G (FANCL) | ENSP00000512569.1:n.*2308C>G | |
| ENST00000696343.1:n.2937C>G (FANCL) | ||
| ENST00000696344.1:c.*792C>G (FANCL) | ENSP00000512570.1:n.*792C>G | |
| ENST00000696358.1:n.3751C>G (FANCL) | ||
| ENST00000696359.1:n.3428C>G (FANCL) | ||
| ENST00000696360.1:n.1863C>G (FANCL) | ||
| ENST00000696361.1:c.*1081C>G (FANCL) | ENSP00000512579.1:n.*1081C>G | |
| ENST00000696362.1:c.*528C>G (FANCL) | ENSP00000512580.1:n.*528C>G | |
| ENST00000696363.1:n.2855C>G (FANCL) | ||
| ENST00000696364.1:n.1471C>G (FANCL) | ||
| ENST00000696371.1:c.1069C>G (FANCL) | ENSP00000512586.1:p.Pro357Ala | |
| ENST00000696372.1:n.2167C>G (FANCL) | ||
| ENST00000696373.1:c.*2308C>G (FANCL) | ENSP00000512587.1:n.*2308C>G | |
| ENST00000696374.1:c.*446C>G (FANCL) | ENSP00000512588.1:n.*446C>G | |
| ENST00000696375.1:n.8011C>G (FANCL) | ||
| ENST00000696376.1:n.6864C>G (FANCL) | ||
| ENST00000696378.1:c.*1096C>G (FANCL) | ENSP00000512589.1:n.*1096C>G | |
| ENST00000696394.1:n.4580C>G (FANCL) | ||
| ENST00000696395.1:n.4519C>G (FANCL) | ||
| ENST00000696396.1:n.2232C>G (FANCL) | ||
| ENST00000696397.1:n.3203C>G (FANCL) | ||
| ENST00000696398.1:c.*225C>G (FANCL) | ENSP00000512604.1:n.*225C>G | |
| ENST00000696399.1:n.2352C>G (FANCL) | ||
| ENST00000696400.1:c.*842C>G (FANCL) | ENSP00000512605.1:n.*842C>G | |
| ENST00000696409.1:c.*595C>G (FANCL) | ENSP00000512610.1:n.*595C>G | |
| ENST00000696410.1:c.*559C>G (FANCL) | ENSP00000512611.1:n.*559C>G | |
| ENST00000696411.1:n.783C>G (FANCL) | ||
| ENST00000696412.1:n.1577C>G (FANCL) | ||
| ENST00000696413.1:n.1080C>G (FANCL) | ||
| ENST00000696414.1:n.2124C>G (FANCL) | ||
| ENST00000696415.1:c.*51C>G (FANCL) | ENSP00000512612.1:n.*51C>G | |
| ENST00000696416.1:n.1086C>G (FANCL) | ||
| ENST00000696432.1:n.3537C>G (FANCL) | ||
| ENST00000696433.1:c.*131C>G (FANCL) | ENSP00000512627.1:n.*131C>G | |
| ENST00000696434.1:c.916C>G (FANCL) | ENSP00000512628.1:p.Pro306Ala | |
| ENST00000696435.1:c.*225C>G (FANCL) | ENSP00000512629.1:n.*225C>G | |
| ENST00000696436.1:n.1032C>G (FANCL) | ||
| ENST00000696437.1:n.1495C>G (FANCL) | ||
| ENST00000696438.1:c.*911C>G (FANCL) | ENSP00000512630.1:n.*911C>G | |
| ENST00000696439.1:n.3127C>G (FANCL) | ||
| ENST00000696440.1:n.2114C>G (FANCL) | ||
| ENST00000696454.1:c.*429C>G (FANCL) | ENSP00000512641.1:n.*429C>G | |
| ENST00000696455.1:c.*131C>G (FANCL) | ENSP00000512642.1:n.*131C>G | |
| ENST00000696456.1:n.588C>G (FANCL) | ||
| ENST00000696457.1:c.*1849C>G (FANCL) | ENSP00000512643.1:n.*1849C>G | |
| ENST00000696458.1:c.*51C>G (FANCL) | ENSP00000512644.1:n.*51C>G | |
| ENST00000696459.1:c.*513C>G (FANCL) | ENSP00000512645.1:n.*513C>G | |
| ENST00000696460.1:n.1575C>G (FANCL) | ||
| ENST00000696467.1:c.*574C>G (FANCL) | ENSP00000512648.1:n.*574C>G | |
| ENST00000696468.1:c.*570C>G (FANCL) | ENSP00000512649.1:n.*570C>G | |
| ENST00000696469.1:c.*225C>G (FANCL) | ENSP00000512650.1:n.*225C>G | |
| ENST00000696470.1:n.3246C>G (FANCL) | ||
| ENST00000696471.1:n.748C>G (FANCL) | ||
| ENST00000696472.1:c.*131C>G (FANCL) | ENSP00000512651.1:n.*131C>G | |
| ENST00000696473.1:c.*761C>G (FANCL) | ENSP00000512652.1:n.*761C>G | |
| ENST00000696474.1:n.954C>G (FANCL) | ||
| ENST00000696475.1:n.2586C>G (FANCL) | ||
| ENST00000696492.1:c.*743C>G (FANCL) | ENSP00000512662.1:n.*743C>G | |
| ENST00000696493.1:c.*926C>G (FANCL) | ENSP00000512663.1:n.*926C>G | |
| ENST00000696494.1:n.1110C>G (FANCL) | ||
| ENST00000696495.1:c.*824C>G (FANCL) | ENSP00000512664.1:n.*824C>G | |
| ENST00000696496.1:n.1617C>G (FANCL) | ||
| ENST00000696497.1:n.4375C>G (FANCL) | ||
| ENST00000696498.1:n.1837C>G (FANCL) | ||
| ENST00000696499.1:c.*515C>G (FANCL) | ENSP00000512665.1:n.*515C>G | |
| ENST00000696508.1:c.*633C>G (FANCL) | ENSP00000512674.1:n.*633C>G | |
| ENST00000696509.1:c.*955C>G (FANCL) | ENSP00000512675.1:n.*955C>G | |
| ENST00000696510.1:c.550C>G (FANCL) | ENSP00000512676.1:p.Pro184Ala | |
| ENST00000696527.1:c.*131C>G (FANCL) | ENSP00000512690.1:n.*131C>G | |
| ENST00000696528.1:c.*131C>G (FANCL) | ENSP00000512691.1:n.*131C>G | |
| ENST00000696529.1:n.941C>G (FANCL) | ||
| ENST00000696530.1:c.874C>G (FANCL) | ENSP00000512692.1:p.Pro292Ala | |
| ENST00000696531.1:c.*610C>G (FANCL) | ENSP00000512693.1:n.*610C>G | |
| ENST00000696532.1:n.2225C>G (FANCL) | ||
| ENST00000696542.1:n.1016C>G (FANCL) | ||
| ENST00000696543.1:c.*131C>G (FANCL) | ENSP00000512703.1:n.*131C>G | |
| ENST00000696544.1:c.*131C>G (FANCL) | ENSP00000512704.1:n.*131C>G | |
| ENST00000696545.1:c.*746C>G (FANCL) | ENSP00000512705.1:n.*746C>G | |
| ENST00000696546.1:c.*857C>G (FANCL) | ENSP00000512706.1:n.*857C>G | |
| ENST00000696547.1:c.1066C>G (FANCL) | ENSP00000512707.1:p.Pro356Ala | |
| ENST00000696548.1:c.*1282C>G (FANCL) | ENSP00000512708.1:n.*1282C>G | |
| ENST00000696564.1:c.*131C>G (FANCL) | ENSP00000512722.1:n.*131C>G | |
| ENST00000696565.1:c.*131C>G (FANCL) | ENSP00000512723.1:n.*131C>G | |
| ENST00000696566.1:n.3666C>G (FANCL) | ||
| ENST00000696567.1:c.973C>G (FANCL) | ENSP00000512724.1:p.Pro325Ala | |
| ENST00000696568.1:n.504C>G (FANCL) | ||
| ENST00000696569.1:n.1187C>G (FANCL) | ||
| ENST00000696570.1:c.*400C>G (FANCL) | ENSP00000512725.1:n.*400C>G | |
| ENST00000696619.1:n.2634C>G (FANCL) | ||
| ENST00000696620.1:c.670C>G (FANCL) | ENSP00000512759.1:p.Pro224Ala | |
| ENST00000696621.1:c.*225C>G (FANCL) | ENSP00000512760.1:n.*225C>G | |
| ENST00000696622.1:n.2809C>G (FANCL) | ||
| ENST00000696623.1:n.1044C>G (FANCL) | ||
| ENST00000696624.1:c.1009C>G (FANCL) | ENSP00000512761.1:p.Pro337Ala | |
| ENST00000696625.1:c.*528C>G (FANCL) | ENSP00000512762.1:n.*528C>G | |
| ENST00000696634.1:c.791C>G (FANCL) | ENSP00000512770.1:n.791C>G | |
| ENST00000696635.1:c.1054C>G (FANCL) | ENSP00000512771.1:p.Pro352Ala | |
| ENST00000696636.1:n.3530C>G (FANCL) | ||
| ENST00000696637.1:n.8151C>G (FANCL) | ||
| ENST00000696638.1:n.1093C>G (FANCL) | ||
| ENST00000696639.1:n.3156C>G (FANCL) | ||
| ENST00000233741.9:c.1078C>G (FANCL) MANE Select | ENSP00000233741.5:p.Pro360Ala | |
| ENST00000233741.8:c.1078C>G (FANCL) | ENSP00000233741.4:p.Pro360Ala | |
| ENST00000402135.7:c.1093C>G (FANCL) | ENSP00000385021.3:p.Pro365Ala | |
| ENST00000403295.7:c.994C>G (FANCL) | ENSP00000386097.3:p.Pro332Ala | |
| ENST00000403676.5:c.727C>G (FANCL) | ENSP00000384046.1:p.Pro243Ala | |
| ENST00000449070.5:c.901C>G (FANCL) | ENSP00000401280.1:p.Pro301Ala | |
| NM_001114636.1:c.1093C>G , LRG_501t1:c.1093C>G (FANCL) | NP_001108108.1:p.Pro365Ala | |
| NM_018062.3:c.1078C>G , LRG_501t2:c.1078C>G (FANCL) | NP_060532.2:p.Pro360Ala | |
| XM_005264395.2:c.1078C>G (FANCL) | XP_005264452.1:p.Pro360Ala | |
| XM_005264397.3:c.727C>G (FANCL) | XP_005264454.1:p.Pro243Ala | |
| XM_011532939.1:c.1138C>G (FANCL) | XP_011531241.1:p.Pro380Ala | |
| XM_011532940.1:c.1123C>G (FANCL) | XP_011531242.1:p.Pro375Ala | |
| XM_011532941.1:c.1138C>G (FANCL) | XP_011531243.1:p.Pro380Ala | |
| XM_011532942.1:c.1093C>G (FANCL) | XP_011531244.1:p.Pro365Ala | |
| XM_011532943.1:c.1339C>G (FANCL) | XP_011531245.1:p.Pro447Ala | |
| XM_011532944.1:c.787C>G (FANCL) | XP_011531246.1:p.Pro263Ala | |
| XM_011532945.1:c.742C>G (FANCL) | XP_011531247.1:p.Pro248Ala | |
| XR_939692.1:n.1077C>G (FANCL) | ||
| NR_156742.1:n.867C>G (FANCL) | ||
| XM_005264395.4:c.1078C>G (FANCL) | XP_005264452.1:p.Pro360Ala | |
| XM_005264540.4:c.*429G>C (VRK2) | XP_005264597.1:n.*429G>C | |
| XM_006712090.4:c.*806G>C (VRK2) | XP_006712153.1:n.*806G>C | |
| XM_006712092.4:c.*429G>C (VRK2) | XP_006712155.1:n.*429G>C | |
| XM_006712093.4:c.*429G>C (VRK2) | XP_006712156.1:n.*429G>C | |
| XM_011532939.3:c.1138C>G (FANCL) | XP_011531241.1:p.Pro380Ala | |
| XM_011532940.3:c.1123C>G (FANCL) | XP_011531242.1:p.Pro375Ala | |
| XM_011532941.2:c.1138C>G (FANCL) | XP_011531243.1:p.Pro380Ala | |
| XM_011532942.3:c.1093C>G (FANCL) | XP_011531244.1:p.Pro365Ala | |
| XM_011532944.2:c.787C>G (FANCL) | XP_011531246.1:p.Pro263Ala | |
| XM_011532945.2:c.742C>G (FANCL) | XP_011531247.1:p.Pro248Ala | |
| XM_011533092.3:c.*429G>C (VRK2) | XP_011531394.1:n.*429G>C | |
| XM_017004414.2:c.1123C>G (FANCL) | XP_016859903.1:p.Pro375Ala | |
| XM_017004416.1:c.727C>G (FANCL) | XP_016859905.1:p.Pro243Ala | |
| XM_017004858.2:c.*806G>C (VRK2) | XP_016860347.1:n.*806G>C | |
| XM_017004859.2:c.*429G>C (VRK2) | XP_016860348.1:n.*429G>C | |
| XM_017004860.2:c.*429G>C (VRK2) | XP_016860349.1:n.*429G>C | |
| XM_017004861.2:c.*429G>C (VRK2) | XP_016860350.1:n.*429G>C | |
| XM_017004862.2:c.*429G>C (VRK2) | XP_016860351.1:n.*429G>C | |
| XM_017004863.2:c.*429G>C (VRK2) | XP_016860352.1:n.*429G>C | |
| XM_017004864.2:c.*806G>C (VRK2) | XP_016860353.1:n.*806G>C | |
| XM_017004865.1:c.*814G>C (VRK2) | XP_016860354.1:n.*814G>C | |
| XM_017004866.1:c.*814G>C (VRK2) | XP_016860355.1:n.*814G>C | |
| XR_001738802.2:n.1024C>G (FANCL) | ||
| XR_001738803.2:n.1009C>G (FANCL) | ||
| XR_002959309.1:n.1720C>G (FANCL) | ||
| XR_939692.2:n.1069C>G (FANCL) | ||
| NM_001374615.1:c.1123C>G (FANCL) | NP_001361544.1:p.Pro375Ala | |
| NM_018062.4:c.1078C>G (FANCL) MANE Select | NP_060532.2:p.Pro360Ala | |
| NR_164659.1:n.959C>G (FANCL) |