Canonical Allele Identifier: CA48354664

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58162927A>G , CM000664.2:g.58162927A>G GRCh38
NC_000002.11:g.58390062A>G , CM000664.1:g.58390062A>G GRCh37
NC_000002.10:g.58243566A>G NCBI36
NG_007418.1:g.83453T>C , LRG_501:g.83453T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.857T>C (FANCL) ENSP00000385021.3:p.Leu286Ser
ENST00000403295.8:c.758T>C (FANCL) ENSP00000386097.3:p.Leu253Ser
ENST00000403676.6:c.*405T>C (FANCL) ENSP00000384046.2:n.*405T>C
ENST00000417361.2:c.*420T>C (FANCL) ENSP00000389448.2:n.*420T>C
ENST00000427708.7:c.887T>C (FANCL) ENSP00000400969.3:p.Leu296Ser
ENST00000446381.6:c.398T>C (FANCL) ENSP00000390991.2:p.Leu133Ser
ENST00000449070.6:c.665T>C (FANCL) ENSP00000401280.2:p.Leu222Ser
ENST00000470506.2:n.1356T>C (FANCL)
ENST00000696305.1:c.785T>C (FANCL) ENSP00000512543.1:p.Leu262Ser
ENST00000696306.1:c.*732T>C (FANCL) ENSP00000512544.1:n.*732T>C
ENST00000696307.1:c.827T>C (FANCL) ENSP00000512545.1:p.Leu276Ser
ENST00000696314.1:c.775+507T>C (FANCL) ENSP00000512552.1:n.775+507T>C
ENST00000696315.1:c.*405T>C (FANCL) ENSP00000512553.1:n.*405T>C
ENST00000696316.1:c.842T>C (FANCL) ENSP00000512554.1:p.Leu281Ser
ENST00000696317.1:c.821+102T>C (FANCL) ENSP00000512555.1:n.821+102T>C
ENST00000696318.1:c.331+507T>C (FANCL) ENSP00000512556.1:n.331+507T>C
ENST00000696319.1:c.800T>C (FANCL) ENSP00000512557.1:p.Leu267Ser
ENST00000696320.1:n.1294T>C (FANCL)
ENST00000696324.1:c.*353+507T>C (FANCL) ENSP00000512561.1:n.*353+507T>C
ENST00000696325.1:n.3925T>C (FANCL)
ENST00000696326.1:c.902T>C (FANCL) ENSP00000512562.1:p.Leu301Ser
ENST00000696338.1:n.956T>C (FANCL)
ENST00000696339.1:n.2475+507T>C (FANCL)
ENST00000696340.1:n.3068T>C (FANCL)
ENST00000696341.1:n.1350T>C (FANCL)
ENST00000696342.1:c.*845T>C (FANCL) ENSP00000512569.1:n.*845T>C
ENST00000696343.1:n.2701T>C (FANCL)
ENST00000696344.1:c.*556T>C (FANCL) ENSP00000512570.1:n.*556T>C
ENST00000696345.1:n.1309T>C (FANCL)
ENST00000696358.1:n.3515T>C (FANCL)
ENST00000696359.1:n.1965T>C (FANCL)
ENST00000696360.1:n.1627T>C (FANCL)
ENST00000696361.1:c.*845T>C (FANCL) ENSP00000512579.1:n.*845T>C
ENST00000696362.1:c.*292T>C (FANCL) ENSP00000512580.1:n.*292T>C
ENST00000696363.1:n.2619T>C (FANCL)
ENST00000696364.1:n.1235T>C (FANCL)
ENST00000696371.1:c.833T>C (FANCL) ENSP00000512586.1:p.Leu278Ser
ENST00000696372.1:n.1931T>C (FANCL)
ENST00000696373.1:c.*845T>C (FANCL) ENSP00000512587.1:n.*845T>C
ENST00000696374.1:c.*271+102T>C (FANCL) ENSP00000512588.1:n.*271+102T>C
ENST00000696375.1:n.7775T>C (FANCL)
ENST00000696376.1:n.5401T>C (FANCL)
ENST00000696377.1:n.1169T>C (FANCL)
ENST00000696378.1:c.*860T>C (FANCL) ENSP00000512589.1:n.*860T>C
ENST00000696394.1:n.4344T>C (FANCL)
ENST00000696395.1:n.3056T>C (FANCL)
ENST00000696396.1:n.1996T>C (FANCL)
ENST00000696397.1:n.2967T>C (FANCL)
ENST00000696398.1:c.796T>C (FANCL) ENSP00000512604.1:p.Tyr266His
ENST00000696399.1:n.889T>C (FANCL)
ENST00000696400.1:c.*606T>C (FANCL) ENSP00000512605.1:n.*606T>C
ENST00000696401.1:n.778T>C (FANCL)
ENST00000696402.1:n.573T>C (FANCL)
ENST00000696409.1:c.*359T>C (FANCL) ENSP00000512610.1:n.*359T>C
ENST00000696410.1:c.*384+102T>C (FANCL) ENSP00000512611.1:n.*384+102T>C
ENST00000696411.1:n.547T>C (FANCL)
ENST00000696412.1:n.1341T>C (FANCL)
ENST00000696413.1:n.905+507T>C (FANCL)
ENST00000696414.1:n.1888T>C (FANCL)
ENST00000696415.1:c.836+102T>C (FANCL) ENSP00000512612.1:n.836+102T>C
ENST00000696416.1:n.850T>C (FANCL)
ENST00000696417.1:c.*572T>C (FANCL) ENSP00000512613.1:n.*572T>C
ENST00000696432.1:n.3301T>C (FANCL)
ENST00000696433.1:c.331+507T>C (FANCL) ENSP00000512627.1:n.331+507T>C
ENST00000696434.1:c.680T>C (FANCL) ENSP00000512628.1:p.Leu227Ser
ENST00000696435.1:c.352T>C (FANCL) ENSP00000512629.1:p.Tyr118His
ENST00000696436.1:n.857+102T>C (FANCL)
ENST00000696437.1:n.1259T>C (FANCL)
ENST00000696438.1:c.*675T>C (FANCL) ENSP00000512630.1:n.*675T>C
ENST00000696439.1:n.2891T>C (FANCL)
ENST00000696440.1:n.1939+507T>C (FANCL)
ENST00000696454.1:c.*255-1289T>C (FANCL) ENSP00000512641.1:n.*255-1289T>C
ENST00000696455.1:c.613+507T>C (FANCL) ENSP00000512642.1:n.613+507T>C
ENST00000696456.1:n.413+507T>C (FANCL)
ENST00000696457.1:c.*1613T>C (FANCL) ENSP00000512643.1:n.*1613T>C
ENST00000696458.1:c.764+102T>C (FANCL) ENSP00000512644.1:n.764+102T>C
ENST00000696459.1:c.*338+507T>C (FANCL) ENSP00000512645.1:n.*338+507T>C
ENST00000696460.1:n.1339T>C (FANCL)
ENST00000696467.1:c.*399+102T>C (FANCL) ENSP00000512648.1:n.*399+102T>C
ENST00000696468.1:c.*334T>C (FANCL) ENSP00000512649.1:n.*334T>C
ENST00000696469.1:c.811T>C (FANCL) ENSP00000512650.1:p.Tyr271His
ENST00000696470.1:n.3010T>C (FANCL)
ENST00000696471.1:n.512T>C (FANCL)
ENST00000696472.1:c.790+507T>C (FANCL) ENSP00000512651.1:n.790+507T>C
ENST00000696473.1:c.*525T>C (FANCL) ENSP00000512652.1:n.*525T>C
ENST00000696474.1:n.718T>C (FANCL)
ENST00000696475.1:n.2411+507T>C (FANCL)
ENST00000696492.1:c.*507T>C (FANCL) ENSP00000512662.1:n.*507T>C
ENST00000696493.1:c.*690T>C (FANCL) ENSP00000512663.1:n.*690T>C
ENST00000696494.1:n.935+507T>C (FANCL)
ENST00000696495.1:c.*588T>C (FANCL) ENSP00000512664.1:n.*588T>C
ENST00000696496.1:n.1381T>C (FANCL)
ENST00000696497.1:n.4139T>C (FANCL)
ENST00000696498.1:n.1662+507T>C (FANCL)
ENST00000696499.1:c.*279T>C (FANCL) ENSP00000512665.1:n.*279T>C
ENST00000696508.1:c.*397T>C (FANCL) ENSP00000512674.1:n.*397T>C
ENST00000696509.1:c.*719T>C (FANCL) ENSP00000512675.1:n.*719T>C
ENST00000696510.1:c.314T>C (FANCL) ENSP00000512676.1:p.Leu105Ser
ENST00000696527.1:c.775+507T>C (FANCL) ENSP00000512690.1:n.775+507T>C
ENST00000696528.1:c.718+507T>C (FANCL) ENSP00000512691.1:n.718+507T>C
ENST00000696529.1:n.705T>C (FANCL)
ENST00000696530.1:c.638T>C (FANCL) ENSP00000512692.1:p.Leu213Ser
ENST00000696531.1:c.*374T>C (FANCL) ENSP00000512693.1:n.*374T>C
ENST00000696532.1:n.1989T>C (FANCL)
ENST00000696542.1:n.780T>C (FANCL)
ENST00000696543.1:c.598+507T>C (FANCL) ENSP00000512703.1:n.598+507T>C
ENST00000696544.1:c.655+507T>C (FANCL) ENSP00000512704.1:n.655+507T>C
ENST00000696545.1:c.*510T>C (FANCL) ENSP00000512705.1:n.*510T>C
ENST00000696546.1:c.*621T>C (FANCL) ENSP00000512706.1:n.*621T>C
ENST00000696547.1:c.830T>C (FANCL) ENSP00000512707.1:p.Leu277Ser
ENST00000696548.1:c.*1046T>C (FANCL) ENSP00000512708.1:n.*1046T>C
ENST00000696564.1:c.820+507T>C (FANCL) ENSP00000512722.1:n.820+507T>C
ENST00000696565.1:c.835+507T>C (FANCL) ENSP00000512723.1:n.835+507T>C
ENST00000696566.1:n.3430T>C (FANCL)
ENST00000696567.1:c.776-39T>C (FANCL) ENSP00000512724.1:n.776-39T>C
ENST00000696569.1:n.951T>C (FANCL)
ENST00000696570.1:c.*225+507T>C (FANCL) ENSP00000512725.1:n.*225+507T>C
ENST00000696619.1:n.2398T>C (FANCL)
ENST00000696620.1:c.434T>C (FANCL) ENSP00000512759.1:p.Leu145Ser
ENST00000696621.1:c.712T>C (FANCL) ENSP00000512760.1:p.Tyr238His
ENST00000696622.1:n.1346T>C (FANCL)
ENST00000696623.1:n.808T>C (FANCL)
ENST00000696624.1:c.773T>C (FANCL) ENSP00000512761.1:p.Leu258Ser
ENST00000696625.1:c.*292T>C (FANCL) ENSP00000512762.1:n.*292T>C
ENST00000696634.1:c.555T>C (FANCL) ENSP00000512770.1:n.555T>C
ENST00000696635.1:c.818T>C (FANCL) ENSP00000512771.1:p.Leu273Ser
ENST00000696636.1:n.2067T>C (FANCL)
ENST00000696637.1:n.7915T>C (FANCL)
ENST00000696638.1:n.857T>C (FANCL)
ENST00000696639.1:n.2920T>C (FANCL)
ENST00000233741.9:c.842T>C (FANCL) MANE Select ENSP00000233741.5:p.Leu281Ser
ENST00000233741.8:c.842T>C (FANCL) ENSP00000233741.4:p.Leu281Ser
ENST00000402135.7:c.857T>C (FANCL) ENSP00000385021.3:p.Leu286Ser
ENST00000403295.7:c.758T>C (FANCL) ENSP00000386097.3:p.Leu253Ser
ENST00000403676.5:c.491T>C (FANCL) ENSP00000384046.1:p.Leu164Ser
ENST00000446381.5:c.398T>C (FANCL) ENSP00000390991.1:p.Leu133Ser
ENST00000449070.5:c.665T>C (FANCL) ENSP00000401280.1:p.Leu222Ser
ENST00000470506.1:n.671T>C (FANCL)
NM_001114636.1:c.857T>C , LRG_501t1:c.857T>C (FANCL) NP_001108108.1:p.Leu286Ser
NM_018062.3:c.842T>C , LRG_501t2:c.842T>C (FANCL) NP_060532.2:p.Leu281Ser
XM_005264395.2:c.842T>C (FANCL) XP_005264452.1:p.Leu281Ser
XM_005264397.3:c.491T>C (FANCL) XP_005264454.1:p.Leu164Ser
XM_011532939.1:c.902T>C (FANCL) XP_011531241.1:p.Leu301Ser
XM_011532940.1:c.887T>C (FANCL) XP_011531242.1:p.Leu296Ser
XM_011532941.1:c.902T>C (FANCL) XP_011531243.1:p.Leu301Ser
XM_011532942.1:c.857T>C (FANCL) XP_011531244.1:p.Leu286Ser
XM_011532943.1:c.1103T>C (FANCL) XP_011531245.1:p.Leu368Ser
XM_011532944.1:c.551T>C (FANCL) XP_011531246.1:p.Leu184Ser
XM_011532945.1:c.506T>C (FANCL) XP_011531247.1:p.Leu169Ser
XR_939692.1:n.902+507T>C (FANCL)
NR_156742.1:n.631T>C (FANCL)
XM_005264395.4:c.842T>C (FANCL) XP_005264452.1:p.Leu281Ser
XM_006712092.4:c.*3234A>G (VRK2) XP_006712155.1:n.*3234A>G
XM_006712093.4:c.*3234A>G (VRK2) XP_006712156.1:n.*3234A>G
XM_011532939.3:c.902T>C (FANCL) XP_011531241.1:p.Leu301Ser
XM_011532940.3:c.887T>C (FANCL) XP_011531242.1:p.Leu296Ser
XM_011532941.2:c.902T>C (FANCL) XP_011531243.1:p.Leu301Ser
XM_011532942.3:c.857T>C (FANCL) XP_011531244.1:p.Leu286Ser
XM_011532944.2:c.551T>C (FANCL) XP_011531246.1:p.Leu184Ser
XM_011532945.2:c.506T>C (FANCL) XP_011531247.1:p.Leu169Ser
XM_017004414.2:c.887T>C (FANCL) XP_016859903.1:p.Leu296Ser
XM_017004416.1:c.491T>C (FANCL) XP_016859905.1:p.Leu164Ser
XM_017004859.2:c.*3234A>G (VRK2) XP_016860348.1:n.*3234A>G
XM_017004860.2:c.*3234A>G (VRK2) XP_016860349.1:n.*3234A>G
XM_017004861.2:c.*3234A>G (VRK2) XP_016860350.1:n.*3234A>G
XM_017004862.2:c.*3234A>G (VRK2) XP_016860351.1:n.*3234A>G
XM_017004863.2:c.*3234A>G (VRK2) XP_016860352.1:n.*3234A>G
XM_017004864.2:c.*3611A>G (VRK2) XP_016860353.1:n.*3611A>G
XM_017004865.1:c.*3619A>G (VRK2) XP_016860354.1:n.*3619A>G
XM_017004866.1:c.*3619A>G (VRK2) XP_016860355.1:n.*3619A>G
XR_001738802.2:n.849+507T>C (FANCL)
XR_001738803.2:n.834+507T>C (FANCL)
XR_002959309.1:n.1484T>C (FANCL)
XR_939692.2:n.894+507T>C (FANCL)
NM_001374615.1:c.887T>C (FANCL) NP_001361544.1:p.Leu296Ser
NM_018062.4:c.842T>C (FANCL) MANE Select NP_060532.2:p.Leu281Ser
NR_164659.1:n.784+507T>C (FANCL)