Canonical Allele Identifier: CA1253719658
Community Standard Title: NM_018062.4(FANCL):c.839T= (p.Val280=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58162930A= , CM000664.2:g.58162930A= GRCh38
NC_000002.11:g.58390065A= , CM000664.1:g.58390065A= GRCh37
NC_000002.10:g.58243569A= NCBI36
NG_007418.1:g.83450T= , LRG_501:g.83450T=

Transcript Alleles

HGVS Amino-acid Change
NM_018062.4:c.839T= (FANCL) MANE Select NP_060532.2:p.Val280=
ENST00000233741.9:c.839T= (FANCL) MANE Select ENSP00000233741.5:p.Val280=
NM_001114636.1:c.854T= , LRG_501t1:c.854T= (FANCL) NP_001108108.1:p.Val285=
NM_001374615.1:c.884T= (FANCL) NP_001361544.1:p.Val295=
NM_018062.3:c.839T= , LRG_501t2:c.839T= (FANCL) NP_060532.2:p.Val280=
NR_156742.1:n.628T= (FANCL)
NR_164659.1:n.784+504T= (FANCL)
ENST00000233741.8:c.839T= (FANCL) ENSP00000233741.4:p.Val280=
ENST00000402135.7:c.854T= (FANCL) ENSP00000385021.3:p.Val285=
ENST00000402135.8:c.854T= (FANCL) ENSP00000385021.3:p.Val285=
ENST00000403295.7:c.755T= (FANCL) ENSP00000386097.3:p.Val252=
ENST00000403295.8:c.755T= (FANCL) ENSP00000386097.3:p.Val252=
ENST00000403676.5:c.488T= (FANCL) ENSP00000384046.1:p.Val163=
ENST00000403676.6:c.*402T= (FANCL) ENSP00000384046.2:n.*402T=
ENST00000417361.2:c.*417T= (FANCL) ENSP00000389448.2:n.*417T=
ENST00000427708.7:c.884T= (FANCL) ENSP00000400969.3:p.Val295=
ENST00000446381.5:c.395T= (FANCL) ENSP00000390991.1:p.Val132=
ENST00000446381.6:c.395T= (FANCL) ENSP00000390991.2:p.Val132=
ENST00000449070.5:c.662T= (FANCL) ENSP00000401280.1:p.Val221=
ENST00000449070.6:c.662T= (FANCL) ENSP00000401280.2:p.Val221=
ENST00000470506.1:n.668T= (FANCL)
ENST00000470506.2:n.1353T= (FANCL)
ENST00000696305.1:c.782T= (FANCL) ENSP00000512543.1:p.Val261=
ENST00000696306.1:c.*729T= (FANCL) ENSP00000512544.1:n.*729T=
ENST00000696307.1:c.824T= (FANCL) ENSP00000512545.1:p.Val275=
ENST00000696314.1:c.775+504T= (FANCL) ENSP00000512552.1:n.775+504T=
ENST00000696315.1:c.*402T= (FANCL) ENSP00000512553.1:n.*402T=
ENST00000696316.1:c.839T= (FANCL) ENSP00000512554.1:p.Val280=
ENST00000696317.1:c.821+99T= (FANCL) ENSP00000512555.1:n.821+99T=
ENST00000696318.1:c.331+504T= (FANCL) ENSP00000512556.1:n.331+504T=
ENST00000696319.1:c.797T= (FANCL) ENSP00000512557.1:p.Val266=
ENST00000696320.1:n.1291T= (FANCL)
ENST00000696324.1:c.*353+504T= (FANCL) ENSP00000512561.1:n.*353+504T=
ENST00000696325.1:n.3922T= (FANCL)
ENST00000696326.1:c.899T= (FANCL) ENSP00000512562.1:p.Val300=
ENST00000696338.1:n.953T= (FANCL)
ENST00000696339.1:n.2475+504T= (FANCL)
ENST00000696340.1:n.3065T= (FANCL)
ENST00000696341.1:n.1347T= (FANCL)
ENST00000696342.1:c.*842T= (FANCL) ENSP00000512569.1:n.*842T=
ENST00000696343.1:n.2698T= (FANCL)
ENST00000696344.1:c.*553T= (FANCL) ENSP00000512570.1:n.*553T=
ENST00000696345.1:n.1306T= (FANCL)
ENST00000696358.1:n.3512T= (FANCL)
ENST00000696359.1:n.1962T= (FANCL)
ENST00000696360.1:n.1624T= (FANCL)
ENST00000696361.1:c.*842T= (FANCL) ENSP00000512579.1:n.*842T=
ENST00000696362.1:c.*289T= (FANCL) ENSP00000512580.1:n.*289T=
ENST00000696363.1:n.2616T= (FANCL)
ENST00000696364.1:n.1232T= (FANCL)
ENST00000696371.1:c.830T= (FANCL) ENSP00000512586.1:p.Val277=
ENST00000696372.1:n.1928T= (FANCL)
ENST00000696373.1:c.*842T= (FANCL) ENSP00000512587.1:n.*842T=
ENST00000696374.1:c.*271+99T= (FANCL) ENSP00000512588.1:n.*271+99T=
ENST00000696375.1:n.7772T= (FANCL)
ENST00000696376.1:n.5398T= (FANCL)
ENST00000696377.1:n.1166T= (FANCL)
ENST00000696378.1:c.*857T= (FANCL) ENSP00000512589.1:n.*857T=
ENST00000696394.1:n.4341T= (FANCL)
ENST00000696395.1:n.3053T= (FANCL)
ENST00000696396.1:n.1993T= (FANCL)
ENST00000696397.1:n.2964T= (FANCL)
ENST00000696398.1:c.793T= (FANCL) ENSP00000512604.1:p.Cys265=
ENST00000696399.1:n.886T= (FANCL)
ENST00000696400.1:c.*603T= (FANCL) ENSP00000512605.1:n.*603T=
ENST00000696401.1:n.775T= (FANCL)
ENST00000696402.1:n.570T= (FANCL)
ENST00000696409.1:c.*356T= (FANCL) ENSP00000512610.1:n.*356T=
ENST00000696410.1:c.*384+99T= (FANCL) ENSP00000512611.1:n.*384+99T=
ENST00000696411.1:n.544T= (FANCL)
ENST00000696412.1:n.1338T= (FANCL)
ENST00000696413.1:n.905+504T= (FANCL)
ENST00000696414.1:n.1885T= (FANCL)
ENST00000696415.1:c.836+99T= (FANCL) ENSP00000512612.1:n.836+99T=
ENST00000696416.1:n.847T= (FANCL)
ENST00000696417.1:c.*569T= (FANCL) ENSP00000512613.1:n.*569T=
ENST00000696432.1:n.3298T= (FANCL)
ENST00000696433.1:c.331+504T= (FANCL) ENSP00000512627.1:n.331+504T=
ENST00000696434.1:c.677T= (FANCL) ENSP00000512628.1:p.Val226=
ENST00000696435.1:c.349T= (FANCL) ENSP00000512629.1:p.Cys117=
ENST00000696436.1:n.857+99T= (FANCL)
ENST00000696437.1:n.1256T= (FANCL)
ENST00000696438.1:c.*672T= (FANCL) ENSP00000512630.1:n.*672T=
ENST00000696439.1:n.2888T= (FANCL)
ENST00000696440.1:n.1939+504T= (FANCL)
ENST00000696454.1:c.*255-1292T= (FANCL) ENSP00000512641.1:n.*255-1292T=
ENST00000696455.1:c.613+504T= (FANCL) ENSP00000512642.1:n.613+504T=
ENST00000696456.1:n.413+504T= (FANCL)
ENST00000696457.1:c.*1610T= (FANCL) ENSP00000512643.1:n.*1610T=
ENST00000696458.1:c.764+99T= (FANCL) ENSP00000512644.1:n.764+99T=
ENST00000696459.1:c.*338+504T= (FANCL) ENSP00000512645.1:n.*338+504T=
ENST00000696460.1:n.1336T= (FANCL)
ENST00000696467.1:c.*399+99T= (FANCL) ENSP00000512648.1:n.*399+99T=
ENST00000696468.1:c.*331T= (FANCL) ENSP00000512649.1:n.*331T=
ENST00000696469.1:c.808T= (FANCL) ENSP00000512650.1:p.Cys270=
ENST00000696470.1:n.3007T= (FANCL)
ENST00000696471.1:n.509T= (FANCL)
ENST00000696472.1:c.790+504T= (FANCL) ENSP00000512651.1:n.790+504T=
ENST00000696473.1:c.*522T= (FANCL) ENSP00000512652.1:n.*522T=
ENST00000696474.1:n.715T= (FANCL)
ENST00000696475.1:n.2411+504T= (FANCL)
ENST00000696492.1:c.*504T= (FANCL) ENSP00000512662.1:n.*504T=
ENST00000696493.1:c.*687T= (FANCL) ENSP00000512663.1:n.*687T=
ENST00000696494.1:n.935+504T= (FANCL)
ENST00000696495.1:c.*585T= (FANCL) ENSP00000512664.1:n.*585T=
ENST00000696496.1:n.1378T= (FANCL)
ENST00000696497.1:n.4136T= (FANCL)
ENST00000696498.1:n.1662+504T= (FANCL)
ENST00000696499.1:c.*276T= (FANCL) ENSP00000512665.1:n.*276T=
ENST00000696508.1:c.*394T= (FANCL) ENSP00000512674.1:n.*394T=
ENST00000696509.1:c.*716T= (FANCL) ENSP00000512675.1:n.*716T=
ENST00000696510.1:c.311T= (FANCL) ENSP00000512676.1:p.Val104=
ENST00000696527.1:c.775+504T= (FANCL) ENSP00000512690.1:n.775+504T=
ENST00000696528.1:c.718+504T= (FANCL) ENSP00000512691.1:n.718+504T=
ENST00000696529.1:n.702T= (FANCL)
ENST00000696530.1:c.635T= (FANCL) ENSP00000512692.1:p.Val212=
ENST00000696531.1:c.*371T= (FANCL) ENSP00000512693.1:n.*371T=
ENST00000696532.1:n.1986T= (FANCL)
ENST00000696542.1:n.777T= (FANCL)
ENST00000696543.1:c.598+504T= (FANCL) ENSP00000512703.1:n.598+504T=
ENST00000696544.1:c.655+504T= (FANCL) ENSP00000512704.1:n.655+504T=
ENST00000696545.1:c.*507T= (FANCL) ENSP00000512705.1:n.*507T=
ENST00000696546.1:c.*618T= (FANCL) ENSP00000512706.1:n.*618T=
ENST00000696547.1:c.827T= (FANCL) ENSP00000512707.1:p.Val276=
ENST00000696548.1:c.*1043T= (FANCL) ENSP00000512708.1:n.*1043T=
ENST00000696564.1:c.820+504T= (FANCL) ENSP00000512722.1:n.820+504T=
ENST00000696565.1:c.835+504T= (FANCL) ENSP00000512723.1:n.835+504T=
ENST00000696566.1:n.3427T= (FANCL)
ENST00000696567.1:c.776-42T= (FANCL) ENSP00000512724.1:n.776-42T=
ENST00000696569.1:n.948T= (FANCL)
ENST00000696570.1:c.*225+504T= (FANCL) ENSP00000512725.1:n.*225+504T=
ENST00000696619.1:n.2395T= (FANCL)
ENST00000696620.1:c.431T= (FANCL) ENSP00000512759.1:p.Val144=
ENST00000696621.1:c.709T= (FANCL) ENSP00000512760.1:p.Cys237=
ENST00000696622.1:n.1343T= (FANCL)
ENST00000696623.1:n.805T= (FANCL)
ENST00000696624.1:c.770T= (FANCL) ENSP00000512761.1:p.Val257=
ENST00000696625.1:c.*289T= (FANCL) ENSP00000512762.1:n.*289T=
ENST00000696634.1:c.552T= (FANCL) ENSP00000512770.1:n.552T=
ENST00000696635.1:c.815T= (FANCL) ENSP00000512771.1:p.Val272=
ENST00000696636.1:n.2064T= (FANCL)
ENST00000696637.1:n.7912T= (FANCL)
ENST00000696638.1:n.854T= (FANCL)
ENST00000696639.1:n.2917T= (FANCL)
XM_005264395.2:c.839T= (FANCL) XP_005264452.1:p.Val280=
XM_005264395.4:c.839T= (FANCL) XP_005264452.1:p.Val280=
XM_005264397.3:c.488T= (FANCL) XP_005264454.1:p.Val163=
XM_006712092.4:c.*3237A= (VRK2) XP_006712155.1:n.*3237A=
XM_006712093.4:c.*3237A= (VRK2) XP_006712156.1:n.*3237A=
XM_011532939.1:c.899T= (FANCL) XP_011531241.1:p.Val300=
XM_011532939.3:c.899T= (FANCL) XP_011531241.1:p.Val300=
XM_011532940.1:c.884T= (FANCL) XP_011531242.1:p.Val295=
XM_011532940.3:c.884T= (FANCL) XP_011531242.1:p.Val295=
XM_011532941.1:c.899T= (FANCL) XP_011531243.1:p.Val300=
XM_011532941.2:c.899T= (FANCL) XP_011531243.1:p.Val300=
XM_011532942.1:c.854T= (FANCL) XP_011531244.1:p.Val285=
XM_011532942.3:c.854T= (FANCL) XP_011531244.1:p.Val285=
XM_011532943.1:c.1100T= (FANCL) XP_011531245.1:p.Val367=
XM_011532944.1:c.548T= (FANCL) XP_011531246.1:p.Val183=
XM_011532944.2:c.548T= (FANCL) XP_011531246.1:p.Val183=
XM_011532945.1:c.503T= (FANCL) XP_011531247.1:p.Val168=
XM_011532945.2:c.503T= (FANCL) XP_011531247.1:p.Val168=
XM_017004414.2:c.884T= (FANCL) XP_016859903.1:p.Val295=
XM_017004416.1:c.488T= (FANCL) XP_016859905.1:p.Val163=
XM_017004859.2:c.*3237A= (VRK2) XP_016860348.1:n.*3237A=
XM_017004860.2:c.*3237A= (VRK2) XP_016860349.1:n.*3237A=
XM_017004861.2:c.*3237A= (VRK2) XP_016860350.1:n.*3237A=
XM_017004862.2:c.*3237A= (VRK2) XP_016860351.1:n.*3237A=
XM_017004863.2:c.*3237A= (VRK2) XP_016860352.1:n.*3237A=
XM_017004864.2:c.*3614A= (VRK2) XP_016860353.1:n.*3614A=
XM_017004865.1:c.*3622A= (VRK2) XP_016860354.1:n.*3622A=
XM_017004866.1:c.*3622A= (VRK2) XP_016860355.1:n.*3622A=
XR_001738802.2:n.849+504T= (FANCL)
XR_001738803.2:n.834+504T= (FANCL)
XR_002959309.1:n.1481T= (FANCL)
XR_939692.1:n.902+504T= (FANCL)
XR_939692.2:n.894+504T= (FANCL)