Canonical Allele Identifier: CA346931521

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160179A>T , CM000664.2:g.58160179A>T GRCh38
NC_000002.11:g.58387314A>T , CM000664.1:g.58387314A>T GRCh37
NC_000002.10:g.58240818A>T NCBI36
NG_007418.1:g.86201T>A , LRG_501:g.86201T>A
NG_029717.2:g.257439A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1036T>A (FANCL) ENSP00000385021.3:p.Trp346Arg
ENST00000403295.8:c.937T>A (FANCL) ENSP00000386097.3:p.Trp313Arg
ENST00000403676.6:c.*584T>A (FANCL) ENSP00000384046.2:n.*584T>A
ENST00000417361.2:c.*599T>A (FANCL) ENSP00000389448.2:n.*599T>A
ENST00000427708.7:c.1066T>A (FANCL) ENSP00000400969.3:p.Trp356Arg
ENST00000446381.6:c.577T>A (FANCL) ENSP00000390991.2:p.Trp193Arg
ENST00000449070.6:c.844T>A (FANCL) ENSP00000401280.2:p.Trp282Arg
ENST00000470506.2:n.1535T>A (FANCL)
ENST00000696305.1:c.964T>A (FANCL) ENSP00000512543.1:p.Trp322Arg
ENST00000696306.1:c.*911T>A (FANCL) ENSP00000512544.1:n.*911T>A
ENST00000696307.1:c.1006T>A (FANCL) ENSP00000512545.1:p.Trp336Arg
ENST00000696314.1:c.*74T>A (FANCL) ENSP00000512552.1:n.*74T>A
ENST00000696315.1:c.*584T>A (FANCL) ENSP00000512553.1:n.*584T>A
ENST00000696316.1:c.904T>A (FANCL) ENSP00000512554.1:p.Trp302Arg
ENST00000696317.1:c.939T>A (FANCL) ENSP00000512555.1:p.Ser313Arg
ENST00000696318.1:c.*74T>A (FANCL) ENSP00000512556.1:n.*74T>A
ENST00000696319.1:c.979T>A (FANCL) ENSP00000512557.1:p.Trp327Arg
ENST00000696320.1:n.2700T>A (FANCL)
ENST00000696324.1:c.*471T>A (FANCL) ENSP00000512561.1:n.*471T>A
ENST00000696325.1:n.4104T>A (FANCL)
ENST00000696326.1:c.1081T>A (FANCL) ENSP00000512562.1:p.Trp361Arg
ENST00000696338.1:n.1135T>A (FANCL)
ENST00000696339.1:n.2593T>A (FANCL)
ENST00000696340.1:n.3247T>A (FANCL)
ENST00000696341.1:n.1529T>A (FANCL)
ENST00000696342.1:c.*2251T>A (FANCL) ENSP00000512569.1:n.*2251T>A
ENST00000696343.1:n.2880T>A (FANCL)
ENST00000696344.1:c.*735T>A (FANCL) ENSP00000512570.1:n.*735T>A
ENST00000696358.1:n.3694T>A (FANCL)
ENST00000696359.1:n.3371T>A (FANCL)
ENST00000696360.1:n.1806T>A (FANCL)
ENST00000696361.1:c.*1024T>A (FANCL) ENSP00000512579.1:n.*1024T>A
ENST00000696362.1:c.*471T>A (FANCL) ENSP00000512580.1:n.*471T>A
ENST00000696363.1:n.2798T>A (FANCL)
ENST00000696364.1:n.1414T>A (FANCL)
ENST00000696371.1:c.1012T>A (FANCL) ENSP00000512586.1:p.Trp338Arg
ENST00000696372.1:n.2110T>A (FANCL)
ENST00000696373.1:c.*2251T>A (FANCL) ENSP00000512587.1:n.*2251T>A
ENST00000696374.1:c.*389T>A (FANCL) ENSP00000512588.1:n.*389T>A
ENST00000696375.1:n.7954T>A (FANCL)
ENST00000696376.1:n.6807T>A (FANCL)
ENST00000696378.1:c.*1039T>A (FANCL) ENSP00000512589.1:n.*1039T>A
ENST00000696394.1:n.4523T>A (FANCL)
ENST00000696395.1:n.4462T>A (FANCL)
ENST00000696396.1:n.2175T>A (FANCL)
ENST00000696397.1:n.3146T>A (FANCL)
ENST00000696398.1:c.*168T>A (FANCL) ENSP00000512604.1:n.*168T>A
ENST00000696399.1:n.2295T>A (FANCL)
ENST00000696400.1:c.*785T>A (FANCL) ENSP00000512605.1:n.*785T>A
ENST00000696409.1:c.*538T>A (FANCL) ENSP00000512610.1:n.*538T>A
ENST00000696410.1:c.*502T>A (FANCL) ENSP00000512611.1:n.*502T>A
ENST00000696411.1:n.726T>A (FANCL)
ENST00000696412.1:n.1520T>A (FANCL)
ENST00000696413.1:n.1023T>A (FANCL)
ENST00000696414.1:n.2067T>A (FANCL)
ENST00000696415.1:c.954T>A (FANCL) ENSP00000512612.1:p.Ser318Arg
ENST00000696416.1:n.1029T>A (FANCL)
ENST00000696432.1:n.3480T>A (FANCL)
ENST00000696433.1:c.*74T>A (FANCL) ENSP00000512627.1:n.*74T>A
ENST00000696434.1:c.859T>A (FANCL) ENSP00000512628.1:p.Trp287Arg
ENST00000696435.1:c.*168T>A (FANCL) ENSP00000512629.1:n.*168T>A
ENST00000696436.1:n.975T>A (FANCL)
ENST00000696437.1:n.1438T>A (FANCL)
ENST00000696438.1:c.*854T>A (FANCL) ENSP00000512630.1:n.*854T>A
ENST00000696439.1:n.3070T>A (FANCL)
ENST00000696440.1:n.2057T>A (FANCL)
ENST00000696454.1:c.*372T>A (FANCL) ENSP00000512641.1:n.*372T>A
ENST00000696455.1:c.*74T>A (FANCL) ENSP00000512642.1:n.*74T>A
ENST00000696456.1:n.531T>A (FANCL)
ENST00000696457.1:c.*1792T>A (FANCL) ENSP00000512643.1:n.*1792T>A
ENST00000696458.1:c.882T>A (FANCL) ENSP00000512644.1:p.Ser294Arg
ENST00000696459.1:c.*456T>A (FANCL) ENSP00000512645.1:n.*456T>A
ENST00000696460.1:n.1518T>A (FANCL)
ENST00000696467.1:c.*517T>A (FANCL) ENSP00000512648.1:n.*517T>A
ENST00000696468.1:c.*513T>A (FANCL) ENSP00000512649.1:n.*513T>A
ENST00000696469.1:c.*168T>A (FANCL) ENSP00000512650.1:n.*168T>A
ENST00000696470.1:n.3189T>A (FANCL)
ENST00000696471.1:n.691T>A (FANCL)
ENST00000696472.1:c.*74T>A (FANCL) ENSP00000512651.1:n.*74T>A
ENST00000696473.1:c.*704T>A (FANCL) ENSP00000512652.1:n.*704T>A
ENST00000696474.1:n.897T>A (FANCL)
ENST00000696475.1:n.2529T>A (FANCL)
ENST00000696492.1:c.*686T>A (FANCL) ENSP00000512662.1:n.*686T>A
ENST00000696493.1:c.*869T>A (FANCL) ENSP00000512663.1:n.*869T>A
ENST00000696494.1:n.1053T>A (FANCL)
ENST00000696495.1:c.*767T>A (FANCL) ENSP00000512664.1:n.*767T>A
ENST00000696496.1:n.1560T>A (FANCL)
ENST00000696497.1:n.4318T>A (FANCL)
ENST00000696498.1:n.1780T>A (FANCL)
ENST00000696499.1:c.*458T>A (FANCL) ENSP00000512665.1:n.*458T>A
ENST00000696508.1:c.*576T>A (FANCL) ENSP00000512674.1:n.*576T>A
ENST00000696509.1:c.*898T>A (FANCL) ENSP00000512675.1:n.*898T>A
ENST00000696510.1:c.493T>A (FANCL) ENSP00000512676.1:p.Trp165Arg
ENST00000696527.1:c.*74T>A (FANCL) ENSP00000512690.1:n.*74T>A
ENST00000696528.1:c.*74T>A (FANCL) ENSP00000512691.1:n.*74T>A
ENST00000696529.1:n.884T>A (FANCL)
ENST00000696530.1:c.817T>A (FANCL) ENSP00000512692.1:p.Trp273Arg
ENST00000696531.1:c.*553T>A (FANCL) ENSP00000512693.1:n.*553T>A
ENST00000696532.1:n.2168T>A (FANCL)
ENST00000696542.1:n.959T>A (FANCL)
ENST00000696543.1:c.*74T>A (FANCL) ENSP00000512703.1:n.*74T>A
ENST00000696544.1:c.*74T>A (FANCL) ENSP00000512704.1:n.*74T>A
ENST00000696545.1:c.*689T>A (FANCL) ENSP00000512705.1:n.*689T>A
ENST00000696546.1:c.*800T>A (FANCL) ENSP00000512706.1:n.*800T>A
ENST00000696547.1:c.1009T>A (FANCL) ENSP00000512707.1:p.Trp337Arg
ENST00000696548.1:c.*1225T>A (FANCL) ENSP00000512708.1:n.*1225T>A
ENST00000696564.1:c.*74T>A (FANCL) ENSP00000512722.1:n.*74T>A
ENST00000696565.1:c.*74T>A (FANCL) ENSP00000512723.1:n.*74T>A
ENST00000696566.1:n.3609T>A (FANCL)
ENST00000696567.1:c.916T>A (FANCL) ENSP00000512724.1:p.Trp306Arg
ENST00000696568.1:n.447T>A (FANCL)
ENST00000696569.1:n.1130T>A (FANCL)
ENST00000696570.1:c.*343T>A (FANCL) ENSP00000512725.1:n.*343T>A
ENST00000696619.1:n.2577T>A (FANCL)
ENST00000696620.1:c.613T>A (FANCL) ENSP00000512759.1:p.Trp205Arg
ENST00000696621.1:c.*168T>A (FANCL) ENSP00000512760.1:n.*168T>A
ENST00000696622.1:n.2752T>A (FANCL)
ENST00000696623.1:n.987T>A (FANCL)
ENST00000696624.1:c.952T>A (FANCL) ENSP00000512761.1:p.Trp318Arg
ENST00000696625.1:c.*471T>A (FANCL) ENSP00000512762.1:n.*471T>A
ENST00000696634.1:c.734T>A (FANCL) ENSP00000512770.1:n.734T>A
ENST00000696635.1:c.997T>A (FANCL) ENSP00000512771.1:p.Trp333Arg
ENST00000696636.1:n.3473T>A (FANCL)
ENST00000696637.1:n.8094T>A (FANCL)
ENST00000696638.1:n.1036T>A (FANCL)
ENST00000696639.1:n.3099T>A (FANCL)
ENST00000233741.9:c.1021T>A (FANCL) MANE Select ENSP00000233741.5:p.Trp341Arg
ENST00000233741.8:c.1021T>A (FANCL) ENSP00000233741.4:p.Trp341Arg
ENST00000402135.7:c.1036T>A (FANCL) ENSP00000385021.3:p.Trp346Arg
ENST00000403295.7:c.937T>A (FANCL) ENSP00000386097.3:p.Trp313Arg
ENST00000403676.5:c.670T>A (FANCL) ENSP00000384046.1:p.Trp224Arg
ENST00000449070.5:c.844T>A (FANCL) ENSP00000401280.1:p.Trp282Arg
NM_001114636.1:c.1036T>A , LRG_501t1:c.1036T>A (FANCL) NP_001108108.1:p.Trp346Arg
NM_018062.3:c.1021T>A , LRG_501t2:c.1021T>A (FANCL) NP_060532.2:p.Trp341Arg
XM_005264395.2:c.1021T>A (FANCL) XP_005264452.1:p.Trp341Arg
XM_005264397.3:c.670T>A (FANCL) XP_005264454.1:p.Trp224Arg
XM_011532939.1:c.1081T>A (FANCL) XP_011531241.1:p.Trp361Arg
XM_011532940.1:c.1066T>A (FANCL) XP_011531242.1:p.Trp356Arg
XM_011532941.1:c.1081T>A (FANCL) XP_011531243.1:p.Trp361Arg
XM_011532942.1:c.1036T>A (FANCL) XP_011531244.1:p.Trp346Arg
XM_011532943.1:c.1282T>A (FANCL) XP_011531245.1:p.Trp428Arg
XM_011532944.1:c.730T>A (FANCL) XP_011531246.1:p.Trp244Arg
XM_011532945.1:c.685T>A (FANCL) XP_011531247.1:p.Trp229Arg
XR_939692.1:n.1020T>A (FANCL)
NR_156742.1:n.810T>A (FANCL)
XM_005264395.4:c.1021T>A (FANCL) XP_005264452.1:p.Trp341Arg
XM_005264540.4:c.*486A>T (VRK2) XP_005264597.1:n.*486A>T
XM_006712090.4:c.*863A>T (VRK2) XP_006712153.1:n.*863A>T
XM_006712092.4:c.*486A>T (VRK2) XP_006712155.1:n.*486A>T
XM_006712093.4:c.*486A>T (VRK2) XP_006712156.1:n.*486A>T
XM_011532939.3:c.1081T>A (FANCL) XP_011531241.1:p.Trp361Arg
XM_011532940.3:c.1066T>A (FANCL) XP_011531242.1:p.Trp356Arg
XM_011532941.2:c.1081T>A (FANCL) XP_011531243.1:p.Trp361Arg
XM_011532942.3:c.1036T>A (FANCL) XP_011531244.1:p.Trp346Arg
XM_011532944.2:c.730T>A (FANCL) XP_011531246.1:p.Trp244Arg
XM_011532945.2:c.685T>A (FANCL) XP_011531247.1:p.Trp229Arg
XM_011533092.3:c.*486A>T (VRK2) XP_011531394.1:n.*486A>T
XM_017004414.2:c.1066T>A (FANCL) XP_016859903.1:p.Trp356Arg
XM_017004416.1:c.670T>A (FANCL) XP_016859905.1:p.Trp224Arg
XM_017004858.2:c.*863A>T (VRK2) XP_016860347.1:n.*863A>T
XM_017004859.2:c.*486A>T (VRK2) XP_016860348.1:n.*486A>T
XM_017004860.2:c.*486A>T (VRK2) XP_016860349.1:n.*486A>T
XM_017004861.2:c.*486A>T (VRK2) XP_016860350.1:n.*486A>T
XM_017004862.2:c.*486A>T (VRK2) XP_016860351.1:n.*486A>T
XM_017004863.2:c.*486A>T (VRK2) XP_016860352.1:n.*486A>T
XM_017004864.2:c.*863A>T (VRK2) XP_016860353.1:n.*863A>T
XM_017004865.1:c.*871A>T (VRK2) XP_016860354.1:n.*871A>T
XM_017004866.1:c.*871A>T (VRK2) XP_016860355.1:n.*871A>T
XR_001738802.2:n.967T>A (FANCL)
XR_001738803.2:n.952T>A (FANCL)
XR_002959309.1:n.1663T>A (FANCL)
XR_939692.2:n.1012T>A (FANCL)
NM_001374615.1:c.1066T>A (FANCL) NP_001361544.1:p.Trp356Arg
NM_018062.4:c.1021T>A (FANCL) MANE Select NP_060532.2:p.Trp341Arg
NR_164659.1:n.902T>A (FANCL)