Canonical Allele Identifier: CA346936064

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58163517C>T , CM000664.2:g.58163517C>T GRCh38
NC_000002.11:g.58390652C>T , CM000664.1:g.58390652C>T GRCh37
NC_000002.10:g.58244156C>T NCBI36
NG_007418.1:g.82863G>A , LRG_501:g.82863G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.707G>A (FANCL) ENSP00000385021.3:p.Gly236Asp
ENST00000403295.8:c.692-443G>A (FANCL) ENSP00000386097.3:n.692-443G>A
ENST00000403676.6:c.*255G>A (FANCL) ENSP00000384046.2:n.*255G>A
ENST00000417361.2:c.*270G>A (FANCL) ENSP00000389448.2:n.*270G>A
ENST00000427708.7:c.737G>A (FANCL) ENSP00000400969.3:p.Gly246Asp
ENST00000446381.6:c.248G>A (FANCL) ENSP00000390991.2:p.Gly83Asp
ENST00000449070.6:c.515G>A (FANCL) ENSP00000401280.2:p.Gly172Asp
ENST00000470506.2:n.766G>A (FANCL)
ENST00000696305.1:c.635G>A (FANCL) ENSP00000512543.1:p.Gly212Asp
ENST00000696306.1:c.*142G>A (FANCL) ENSP00000512544.1:n.*142G>A
ENST00000696307.1:c.692G>A (FANCL) ENSP00000512545.1:p.Gly231Asp
ENST00000696314.1:c.692G>A (FANCL) ENSP00000512552.1:p.Gly231Asp
ENST00000696315.1:c.*255G>A (FANCL) ENSP00000512553.1:n.*255G>A
ENST00000696316.1:c.692G>A (FANCL) ENSP00000512554.1:p.Gly231Asp
ENST00000696317.1:c.692G>A (FANCL) ENSP00000512555.1:p.Gly231Asp
ENST00000696318.1:c.248G>A (FANCL) ENSP00000512556.1:p.Gly83Asp
ENST00000696319.1:c.650G>A (FANCL) ENSP00000512557.1:p.Gly217Asp
ENST00000696320.1:n.704G>A (FANCL)
ENST00000696324.1:c.*270G>A (FANCL) ENSP00000512561.1:n.*270G>A
ENST00000696325.1:n.3775G>A (FANCL)
ENST00000696326.1:c.752G>A (FANCL) ENSP00000512562.1:p.Gly251Asp
ENST00000696338.1:n.725G>A (FANCL)
ENST00000696339.1:n.2392G>A (FANCL)
ENST00000696340.1:n.2918G>A (FANCL)
ENST00000696341.1:n.760G>A (FANCL)
ENST00000696342.1:c.*255G>A (FANCL) ENSP00000512569.1:n.*255G>A
ENST00000696343.1:n.2551G>A (FANCL)
ENST00000696344.1:c.*406G>A (FANCL) ENSP00000512570.1:n.*406G>A
ENST00000696345.1:n.719G>A (FANCL)
ENST00000696358.1:n.2925G>A (FANCL)
ENST00000696359.1:n.1375G>A (FANCL)
ENST00000696360.1:n.1396G>A (FANCL)
ENST00000696361.1:c.*255G>A (FANCL) ENSP00000512579.1:n.*255G>A
ENST00000696362.1:c.*142G>A (FANCL) ENSP00000512580.1:n.*142G>A
ENST00000696363.1:n.2469G>A (FANCL)
ENST00000696364.1:n.645G>A (FANCL)
ENST00000696371.1:c.683G>A (FANCL) ENSP00000512586.1:p.Gly228Asp
ENST00000696372.1:n.1700G>A (FANCL)
ENST00000696373.1:c.*255G>A (FANCL) ENSP00000512587.1:n.*255G>A
ENST00000696374.1:c.*142G>A (FANCL) ENSP00000512588.1:n.*142G>A
ENST00000696375.1:n.7185G>A (FANCL)
ENST00000696376.1:n.4811G>A (FANCL)
ENST00000696377.1:n.579G>A (FANCL)
ENST00000696378.1:c.*270G>A (FANCL) ENSP00000512589.1:n.*270G>A
ENST00000696394.1:n.3754G>A (FANCL)
ENST00000696395.1:n.2466G>A (FANCL)
ENST00000696396.1:n.1406G>A (FANCL)
ENST00000696397.1:n.2377G>A (FANCL)
ENST00000696398.1:c.692G>A (FANCL) ENSP00000512604.1:p.Gly231Asp
ENST00000696399.1:n.299G>A (FANCL)
ENST00000696400.1:c.*456G>A (FANCL) ENSP00000512605.1:n.*456G>A
ENST00000696401.1:n.674G>A (FANCL)
ENST00000696402.1:n.64G>A (FANCL)
ENST00000696409.1:c.*255G>A (FANCL) ENSP00000512610.1:n.*255G>A
ENST00000696410.1:c.*255G>A (FANCL) ENSP00000512611.1:n.*255G>A
ENST00000696411.1:n.316G>A (FANCL)
ENST00000696412.1:n.1191G>A (FANCL)
ENST00000696413.1:n.822G>A (FANCL)
ENST00000696414.1:n.1298G>A (FANCL)
ENST00000696415.1:c.707G>A (FANCL) ENSP00000512612.1:p.Gly236Asp
ENST00000696416.1:n.260G>A (FANCL)
ENST00000696417.1:c.*422G>A (FANCL) ENSP00000512613.1:n.*422G>A
ENST00000696432.1:n.3151G>A (FANCL)
ENST00000696433.1:c.248G>A (FANCL) ENSP00000512627.1:p.Gly83Asp
ENST00000696434.1:c.530G>A (FANCL) ENSP00000512628.1:p.Gly177Asp
ENST00000696435.1:c.248G>A (FANCL) ENSP00000512629.1:p.Gly83Asp
ENST00000696436.1:n.728G>A (FANCL)
ENST00000696437.1:n.1109G>A (FANCL)
ENST00000696438.1:c.*525G>A (FANCL) ENSP00000512630.1:n.*525G>A
ENST00000696439.1:n.2741G>A (FANCL)
ENST00000696440.1:n.1856G>A (FANCL)
ENST00000696454.1:c.*255-1879G>A (FANCL) ENSP00000512641.1:n.*255-1879G>A
ENST00000696455.1:c.530G>A (FANCL) ENSP00000512642.1:p.Gly177Asp
ENST00000696456.1:n.330G>A (FANCL)
ENST00000696457.1:c.*1463G>A (FANCL) ENSP00000512643.1:n.*1463G>A
ENST00000696458.1:c.635G>A (FANCL) ENSP00000512644.1:p.Gly212Asp
ENST00000696459.1:c.*255G>A (FANCL) ENSP00000512645.1:n.*255G>A
ENST00000696460.1:n.749G>A (FANCL)
ENST00000696467.1:c.*270G>A (FANCL) ENSP00000512648.1:n.*270G>A
ENST00000696468.1:c.*184G>A (FANCL) ENSP00000512649.1:n.*184G>A
ENST00000696469.1:c.707G>A (FANCL) ENSP00000512650.1:p.Gly236Asp
ENST00000696470.1:n.2420G>A (FANCL)
ENST00000696471.1:n.362G>A (FANCL)
ENST00000696472.1:c.707G>A (FANCL) ENSP00000512651.1:p.Gly236Asp
ENST00000696473.1:c.*375G>A (FANCL) ENSP00000512652.1:n.*375G>A
ENST00000696474.1:n.614G>A (FANCL)
ENST00000696475.1:n.2328G>A (FANCL)
ENST00000696492.1:c.*357G>A (FANCL) ENSP00000512662.1:n.*357G>A
ENST00000696493.1:c.*540G>A (FANCL) ENSP00000512663.1:n.*540G>A
ENST00000696494.1:n.852G>A (FANCL)
ENST00000696495.1:c.*438G>A (FANCL) ENSP00000512664.1:n.*438G>A
ENST00000696496.1:n.791G>A (FANCL)
ENST00000696497.1:n.3989G>A (FANCL)
ENST00000696498.1:n.1579G>A (FANCL)
ENST00000696499.1:c.*129G>A (FANCL) ENSP00000512665.1:n.*129G>A
ENST00000696508.1:c.*255G>A (FANCL) ENSP00000512674.1:n.*255G>A
ENST00000696509.1:c.*129G>A (FANCL) ENSP00000512675.1:n.*129G>A
ENST00000696510.1:c.248-443G>A (FANCL) ENSP00000512676.1:n.248-443G>A
ENST00000696527.1:c.692G>A (FANCL) ENSP00000512690.1:p.Gly231Asp
ENST00000696528.1:c.635G>A (FANCL) ENSP00000512691.1:p.Gly212Asp
ENST00000696529.1:n.555G>A (FANCL)
ENST00000696530.1:c.488G>A (FANCL) ENSP00000512692.1:p.Gly163Asp
ENST00000696531.1:c.*270G>A (FANCL) ENSP00000512693.1:n.*270G>A
ENST00000696532.1:n.1839G>A (FANCL)
ENST00000696542.1:n.190G>A (FANCL)
ENST00000696543.1:c.515G>A (FANCL) ENSP00000512703.1:p.Gly172Asp
ENST00000696544.1:c.572G>A (FANCL) ENSP00000512704.1:p.Gly191Asp
ENST00000696545.1:c.*406G>A (FANCL) ENSP00000512705.1:n.*406G>A
ENST00000696546.1:c.*471G>A (FANCL) ENSP00000512706.1:n.*471G>A
ENST00000696547.1:c.680G>A (FANCL) ENSP00000512707.1:p.Gly227Asp
ENST00000696548.1:c.*456G>A (FANCL) ENSP00000512708.1:n.*456G>A
ENST00000696564.1:c.737G>A (FANCL) ENSP00000512722.1:p.Gly246Asp
ENST00000696565.1:c.752G>A (FANCL) ENSP00000512723.1:p.Gly251Asp
ENST00000696566.1:n.2840G>A (FANCL)
ENST00000696567.1:c.692G>A (FANCL) ENSP00000512724.1:p.Gly231Asp
ENST00000696569.1:n.720G>A (FANCL)
ENST00000696570.1:c.*142G>A (FANCL) ENSP00000512725.1:n.*142G>A
ENST00000696619.1:n.1808G>A (FANCL)
ENST00000696620.1:c.368-443G>A (FANCL) ENSP00000512759.1:n.368-443G>A
ENST00000696621.1:c.692-570G>A (FANCL) ENSP00000512760.1:n.692-570G>A
ENST00000696622.1:n.756G>A (FANCL)
ENST00000696623.1:n.577G>A (FANCL)
ENST00000696624.1:c.707-443G>A (FANCL) ENSP00000512761.1:n.707-443G>A
ENST00000696625.1:c.*142G>A (FANCL) ENSP00000512762.1:n.*142G>A
ENST00000696634.1:c.429-24G>A (FANCL) ENSP00000512770.1:n.429-24G>A
ENST00000696635.1:c.692-24G>A (FANCL) ENSP00000512771.1:n.692-24G>A
ENST00000696636.1:n.1477G>A (FANCL)
ENST00000696637.1:n.7325G>A (FANCL)
ENST00000696638.1:n.707G>A (FANCL)
ENST00000696639.1:n.2330G>A (FANCL)
ENST00000233741.9:c.692G>A (FANCL) MANE Select ENSP00000233741.5:p.Gly231Asp
ENST00000233741.8:c.692G>A (FANCL) ENSP00000233741.4:p.Gly231Asp
ENST00000402135.7:c.707G>A (FANCL) ENSP00000385021.3:p.Gly236Asp
ENST00000403295.7:c.692-443G>A (FANCL) ENSP00000386097.3:n.692-443G>A
ENST00000403676.5:c.341G>A (FANCL) ENSP00000384046.1:p.Gly114Asp
ENST00000417361.1:c.356G>A (FANCL) ENSP00000389448.1:p.Gly119Asp
ENST00000427708.6:c.735G>A (FANCL)
ENST00000446381.5:c.248G>A (FANCL) ENSP00000390991.1:p.Gly83Asp
ENST00000449070.5:c.515G>A (FANCL) ENSP00000401280.1:p.Gly172Asp
ENST00000470506.1:n.81G>A (FANCL)
NM_001114636.1:c.707G>A , LRG_501t1:c.707G>A (FANCL) NP_001108108.1:p.Gly236Asp
NM_018062.3:c.692G>A , LRG_501t2:c.692G>A (FANCL) NP_060532.2:p.Gly231Asp
XM_005264395.2:c.692G>A (FANCL) XP_005264452.1:p.Gly231Asp
XM_005264397.3:c.341G>A (FANCL) XP_005264454.1:p.Gly114Asp
XM_011532939.1:c.752G>A (FANCL) XP_011531241.1:p.Gly251Asp
XM_011532940.1:c.737G>A (FANCL) XP_011531242.1:p.Gly246Asp
XM_011532941.1:c.752G>A (FANCL) XP_011531243.1:p.Gly251Asp
XM_011532942.1:c.707G>A (FANCL) XP_011531244.1:p.Gly236Asp
XM_011532943.1:c.953G>A (FANCL) XP_011531245.1:p.Gly318Asp
XM_011532944.1:c.401G>A (FANCL) XP_011531246.1:p.Gly134Asp
XM_011532945.1:c.356G>A (FANCL) XP_011531247.1:p.Gly119Asp
XR_939692.1:n.819G>A (FANCL)
NR_156742.1:n.481G>A (FANCL)
XM_005264395.4:c.692G>A (FANCL) XP_005264452.1:p.Gly231Asp
XM_006712092.4:c.*3824C>T (VRK2) XP_006712155.1:n.*3824C>T
XM_006712093.4:c.*3824C>T (VRK2) XP_006712156.1:n.*3824C>T
XM_011532939.3:c.752G>A (FANCL) XP_011531241.1:p.Gly251Asp
XM_011532940.3:c.737G>A (FANCL) XP_011531242.1:p.Gly246Asp
XM_011532941.2:c.752G>A (FANCL) XP_011531243.1:p.Gly251Asp
XM_011532942.3:c.707G>A (FANCL) XP_011531244.1:p.Gly236Asp
XM_011532944.2:c.401G>A (FANCL) XP_011531246.1:p.Gly134Asp
XM_011532945.2:c.356G>A (FANCL) XP_011531247.1:p.Gly119Asp
XM_017004414.2:c.737G>A (FANCL) XP_016859903.1:p.Gly246Asp
XM_017004416.1:c.341G>A (FANCL) XP_016859905.1:p.Gly114Asp
XM_017004859.2:c.*3824C>T (VRK2) XP_016860348.1:n.*3824C>T
XM_017004860.2:c.*3824C>T (VRK2) XP_016860349.1:n.*3824C>T
XM_017004861.2:c.*3824C>T (VRK2) XP_016860350.1:n.*3824C>T
XM_017004862.2:c.*3824C>T (VRK2) XP_016860351.1:n.*3824C>T
XM_017004863.2:c.*3824C>T (VRK2) XP_016860352.1:n.*3824C>T
XM_017004864.2:c.*4201C>T (VRK2) XP_016860353.1:n.*4201C>T
XM_017004865.1:c.*4209C>T (VRK2) XP_016860354.1:n.*4209C>T
XM_017004866.1:c.*4209C>T (VRK2) XP_016860355.1:n.*4209C>T
XR_001738802.2:n.766G>A (FANCL)
XR_001738803.2:n.751G>A (FANCL)
XR_002959309.1:n.894G>A (FANCL)
XR_939692.2:n.811G>A (FANCL)
NM_001374615.1:c.737G>A (FANCL) NP_001361544.1:p.Gly246Asp
NM_018062.4:c.692G>A (FANCL) MANE Select NP_060532.2:p.Gly231Asp
NR_164659.1:n.701G>A (FANCL)