Canonical Allele Identifier: CA346935563
Community Standard Title: NM_018062.4(FANCL):c.821+1G>A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58163028C>T , CM000664.2:g.58163028C>T GRCh38
NC_000002.11:g.58390163C>T , CM000664.1:g.58390163C>T GRCh37
NC_000002.10:g.58243667C>T NCBI36
NG_007418.1:g.83352G>A , LRG_501:g.83352G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018062.4:c.821+1G>A (FANCL) MANE Select NP_060532.2:n.821+1G>A
ENST00000233741.9:c.821+1G>A (FANCL) MANE Select ENSP00000233741.5:n.821+1G>A
NM_001114636.1:c.836+1G>A , LRG_501t1:c.836+1G>A (FANCL) NP_001108108.1:n.836+1G>A
NM_001374615.1:c.866+1G>A (FANCL) NP_001361544.1:n.866+1G>A
NM_018062.3:c.821+1G>A , LRG_501t2:c.821+1G>A (FANCL) NP_060532.2:n.821+1G>A
NR_156742.1:n.610+1G>A (FANCL)
NR_164659.1:n.784+406G>A (FANCL)
ENST00000233741.8:c.821+1G>A (FANCL) ENSP00000233741.4:n.821+1G>A
ENST00000402135.7:c.836+1G>A (FANCL) ENSP00000385021.3:n.836+1G>A
ENST00000402135.8:c.836+1G>A (FANCL) ENSP00000385021.3:n.836+1G>A
ENST00000403295.7:c.737+1G>A (FANCL) ENSP00000386097.3:n.737+1G>A
ENST00000403295.8:c.737+1G>A (FANCL) ENSP00000386097.3:n.737+1G>A
ENST00000403676.5:c.470+1G>A (FANCL) ENSP00000384046.1:n.470+1G>A
ENST00000403676.6:c.*384+1G>A (FANCL) ENSP00000384046.2:n.*384+1G>A
ENST00000417361.2:c.*399+1G>A (FANCL) ENSP00000389448.2:n.*399+1G>A
ENST00000427708.7:c.866+1G>A (FANCL) ENSP00000400969.3:n.866+1G>A
ENST00000446381.5:c.377+1G>A (FANCL) ENSP00000390991.1:n.377+1G>A
ENST00000446381.6:c.377+1G>A (FANCL) ENSP00000390991.2:n.377+1G>A
ENST00000449070.5:c.644+1G>A (FANCL) ENSP00000401280.1:n.644+1G>A
ENST00000449070.6:c.644+1G>A (FANCL) ENSP00000401280.2:n.644+1G>A
ENST00000470506.1:n.570G>A (FANCL)
ENST00000470506.2:n.1255G>A (FANCL)
ENST00000696305.1:c.764+1G>A (FANCL) ENSP00000512543.1:n.764+1G>A
ENST00000696306.1:c.*631G>A (FANCL) ENSP00000512544.1:n.*631G>A
ENST00000696307.1:c.821+1G>A (FANCL) ENSP00000512545.1:n.821+1G>A
ENST00000696314.1:c.775+406G>A (FANCL) ENSP00000512552.1:n.775+406G>A
ENST00000696315.1:c.*384+1G>A (FANCL) ENSP00000512553.1:n.*384+1G>A
ENST00000696316.1:c.821+1G>A (FANCL) ENSP00000512554.1:n.821+1G>A
ENST00000696317.1:c.821+1G>A (FANCL) ENSP00000512555.1:n.821+1G>A
ENST00000696318.1:c.331+406G>A (FANCL) ENSP00000512556.1:n.331+406G>A
ENST00000696319.1:c.779+1G>A (FANCL) ENSP00000512557.1:n.779+1G>A
ENST00000696320.1:n.1193G>A (FANCL)
ENST00000696324.1:c.*353+406G>A (FANCL) ENSP00000512561.1:n.*353+406G>A
ENST00000696325.1:n.3904+1G>A (FANCL)
ENST00000696326.1:c.881+1G>A (FANCL) ENSP00000512562.1:n.881+1G>A
ENST00000696338.1:n.855G>A (FANCL)
ENST00000696339.1:n.2475+406G>A (FANCL)
ENST00000696340.1:n.3047+1G>A (FANCL)
ENST00000696341.1:n.1249G>A (FANCL)
ENST00000696342.1:c.*744G>A (FANCL) ENSP00000512569.1:n.*744G>A
ENST00000696343.1:n.2680+1G>A (FANCL)
ENST00000696344.1:c.*535+1G>A (FANCL) ENSP00000512570.1:n.*535+1G>A
ENST00000696345.1:n.1208G>A (FANCL)
ENST00000696358.1:n.3414G>A (FANCL)
ENST00000696359.1:n.1864G>A (FANCL)
ENST00000696360.1:n.1526G>A (FANCL)
ENST00000696361.1:c.*744G>A (FANCL) ENSP00000512579.1:n.*744G>A
ENST00000696362.1:c.*271+1G>A (FANCL) ENSP00000512580.1:n.*271+1G>A
ENST00000696363.1:n.2598+1G>A (FANCL)
ENST00000696364.1:n.1134G>A (FANCL)
ENST00000696371.1:c.812+1G>A (FANCL) ENSP00000512586.1:n.812+1G>A
ENST00000696372.1:n.1830G>A (FANCL)
ENST00000696373.1:c.*744G>A (FANCL) ENSP00000512587.1:n.*744G>A
ENST00000696374.1:c.*271+1G>A (FANCL) ENSP00000512588.1:n.*271+1G>A
ENST00000696375.1:n.7674G>A (FANCL)
ENST00000696376.1:n.5300G>A (FANCL)
ENST00000696377.1:n.1068G>A (FANCL)
ENST00000696378.1:c.*759G>A (FANCL) ENSP00000512589.1:n.*759G>A
ENST00000696394.1:n.4243G>A (FANCL)
ENST00000696395.1:n.2955G>A (FANCL)
ENST00000696396.1:n.1895G>A (FANCL)
ENST00000696397.1:n.2866G>A (FANCL)
ENST00000696398.1:c.776-81G>A (FANCL) ENSP00000512604.1:n.776-81G>A
ENST00000696399.1:n.788G>A (FANCL)
ENST00000696400.1:c.*585+1G>A (FANCL) ENSP00000512605.1:n.*585+1G>A
ENST00000696401.1:n.758-81G>A (FANCL)
ENST00000696402.1:n.552+1G>A (FANCL)
ENST00000696409.1:c.*339-81G>A (FANCL) ENSP00000512610.1:n.*339-81G>A
ENST00000696410.1:c.*384+1G>A (FANCL) ENSP00000512611.1:n.*384+1G>A
ENST00000696411.1:n.446G>A (FANCL)
ENST00000696412.1:n.1320+1G>A (FANCL)
ENST00000696413.1:n.905+406G>A (FANCL)
ENST00000696414.1:n.1787G>A (FANCL)
ENST00000696415.1:c.836+1G>A (FANCL) ENSP00000512612.1:n.836+1G>A
ENST00000696416.1:n.749G>A (FANCL)
ENST00000696417.1:c.*551+1G>A (FANCL) ENSP00000512613.1:n.*551+1G>A
ENST00000696432.1:n.3280+1G>A (FANCL)
ENST00000696433.1:c.331+406G>A (FANCL) ENSP00000512627.1:n.331+406G>A
ENST00000696434.1:c.659+1G>A (FANCL) ENSP00000512628.1:n.659+1G>A
ENST00000696435.1:c.332-81G>A (FANCL) ENSP00000512629.1:n.332-81G>A
ENST00000696436.1:n.857+1G>A (FANCL)
ENST00000696437.1:n.1238+1G>A (FANCL)
ENST00000696438.1:c.*654+1G>A (FANCL) ENSP00000512630.1:n.*654+1G>A
ENST00000696439.1:n.2870+1G>A (FANCL)
ENST00000696440.1:n.1939+406G>A (FANCL)
ENST00000696454.1:c.*255-1390G>A (FANCL) ENSP00000512641.1:n.*255-1390G>A
ENST00000696455.1:c.613+406G>A (FANCL) ENSP00000512642.1:n.613+406G>A
ENST00000696456.1:n.413+406G>A (FANCL)
ENST00000696457.1:c.*1592+1G>A (FANCL) ENSP00000512643.1:n.*1592+1G>A
ENST00000696458.1:c.764+1G>A (FANCL) ENSP00000512644.1:n.764+1G>A
ENST00000696459.1:c.*338+406G>A (FANCL) ENSP00000512645.1:n.*338+406G>A
ENST00000696460.1:n.1238G>A (FANCL)
ENST00000696467.1:c.*399+1G>A (FANCL) ENSP00000512648.1:n.*399+1G>A
ENST00000696468.1:c.*313+1G>A (FANCL) ENSP00000512649.1:n.*313+1G>A
ENST00000696469.1:c.791-81G>A (FANCL) ENSP00000512650.1:n.791-81G>A
ENST00000696470.1:n.2909G>A (FANCL)
ENST00000696471.1:n.491+1G>A (FANCL)
ENST00000696472.1:c.790+406G>A (FANCL) ENSP00000512651.1:n.790+406G>A
ENST00000696473.1:c.*504+1G>A (FANCL) ENSP00000512652.1:n.*504+1G>A
ENST00000696474.1:n.698-81G>A (FANCL)
ENST00000696475.1:n.2411+406G>A (FANCL)
ENST00000696492.1:c.*486+1G>A (FANCL) ENSP00000512662.1:n.*486+1G>A
ENST00000696493.1:c.*669+1G>A (FANCL) ENSP00000512663.1:n.*669+1G>A
ENST00000696494.1:n.935+406G>A (FANCL)
ENST00000696495.1:c.*567+1G>A (FANCL) ENSP00000512664.1:n.*567+1G>A
ENST00000696496.1:n.1280G>A (FANCL)
ENST00000696497.1:n.4118+1G>A (FANCL)
ENST00000696498.1:n.1662+406G>A (FANCL)
ENST00000696499.1:c.*258+1G>A (FANCL) ENSP00000512665.1:n.*258+1G>A
ENST00000696508.1:c.*384+1G>A (FANCL) ENSP00000512674.1:n.*384+1G>A
ENST00000696509.1:c.*618G>A (FANCL) ENSP00000512675.1:n.*618G>A
ENST00000696510.1:c.293+1G>A (FANCL) ENSP00000512676.1:n.293+1G>A
ENST00000696527.1:c.775+406G>A (FANCL) ENSP00000512690.1:n.775+406G>A
ENST00000696528.1:c.718+406G>A (FANCL) ENSP00000512691.1:n.718+406G>A
ENST00000696529.1:n.684+1G>A (FANCL)
ENST00000696530.1:c.617+1G>A (FANCL) ENSP00000512692.1:n.617+1G>A
ENST00000696531.1:c.*354-81G>A (FANCL) ENSP00000512693.1:n.*354-81G>A
ENST00000696532.1:n.1968+1G>A (FANCL)
ENST00000696542.1:n.679G>A (FANCL)
ENST00000696543.1:c.598+406G>A (FANCL) ENSP00000512703.1:n.598+406G>A
ENST00000696544.1:c.655+406G>A (FANCL) ENSP00000512704.1:n.655+406G>A
ENST00000696545.1:c.*490-81G>A (FANCL) ENSP00000512705.1:n.*490-81G>A
ENST00000696546.1:c.*600+1G>A (FANCL) ENSP00000512706.1:n.*600+1G>A
ENST00000696547.1:c.809+1G>A (FANCL) ENSP00000512707.1:n.809+1G>A
ENST00000696548.1:c.*945G>A (FANCL) ENSP00000512708.1:n.*945G>A
ENST00000696564.1:c.820+406G>A (FANCL) ENSP00000512722.1:n.820+406G>A
ENST00000696565.1:c.835+406G>A (FANCL) ENSP00000512723.1:n.835+406G>A
ENST00000696566.1:n.3329G>A (FANCL)
ENST00000696567.1:c.776-140G>A (FANCL) ENSP00000512724.1:n.776-140G>A
ENST00000696569.1:n.850G>A (FANCL)
ENST00000696570.1:c.*225+406G>A (FANCL) ENSP00000512725.1:n.*225+406G>A
ENST00000696619.1:n.2297G>A (FANCL)
ENST00000696620.1:c.413+1G>A (FANCL) ENSP00000512759.1:n.413+1G>A
ENST00000696621.1:c.692-81G>A (FANCL) ENSP00000512760.1:n.692-81G>A
ENST00000696622.1:n.1245G>A (FANCL)
ENST00000696623.1:n.707G>A (FANCL)
ENST00000696624.1:c.752+1G>A (FANCL) ENSP00000512761.1:n.752+1G>A
ENST00000696625.1:c.*271+1G>A (FANCL) ENSP00000512762.1:n.*271+1G>A
ENST00000696634.1:c.534+1G>A (FANCL) ENSP00000512770.1:n.534+1G>A
ENST00000696635.1:c.797+1G>A (FANCL) ENSP00000512771.1:n.797+1G>A
ENST00000696636.1:n.1966G>A (FANCL)
ENST00000696637.1:n.7814G>A (FANCL)
ENST00000696638.1:n.836+1G>A (FANCL)
ENST00000696639.1:n.2819G>A (FANCL)
XM_005264395.2:c.821+1G>A (FANCL) XP_005264452.1:n.821+1G>A
XM_005264395.4:c.821+1G>A (FANCL) XP_005264452.1:n.821+1G>A
XM_005264397.3:c.470+1G>A (FANCL) XP_005264454.1:n.470+1G>A
XM_006712092.4:c.*3335C>T (VRK2) XP_006712155.1:n.*3335C>T
XM_006712093.4:c.*3335C>T (VRK2) XP_006712156.1:n.*3335C>T
XM_011532939.1:c.881+1G>A (FANCL) XP_011531241.1:n.881+1G>A
XM_011532939.3:c.881+1G>A (FANCL) XP_011531241.1:n.881+1G>A
XM_011532940.1:c.866+1G>A (FANCL) XP_011531242.1:n.866+1G>A
XM_011532940.3:c.866+1G>A (FANCL) XP_011531242.1:n.866+1G>A
XM_011532941.1:c.881+1G>A (FANCL) XP_011531243.1:n.881+1G>A
XM_011532941.2:c.881+1G>A (FANCL) XP_011531243.1:n.881+1G>A
XM_011532942.1:c.836+1G>A (FANCL) XP_011531244.1:n.836+1G>A
XM_011532942.3:c.836+1G>A (FANCL) XP_011531244.1:n.836+1G>A
XM_011532943.1:c.1082+1G>A (FANCL) XP_011531245.1:n.1082+1G>A
XM_011532944.1:c.530+1G>A (FANCL) XP_011531246.1:n.530+1G>A
XM_011532944.2:c.530+1G>A (FANCL) XP_011531246.1:n.530+1G>A
XM_011532945.1:c.485+1G>A (FANCL) XP_011531247.1:n.485+1G>A
XM_011532945.2:c.485+1G>A (FANCL) XP_011531247.1:n.485+1G>A
XM_017004414.2:c.866+1G>A (FANCL) XP_016859903.1:n.866+1G>A
XM_017004416.1:c.470+1G>A (FANCL) XP_016859905.1:n.470+1G>A
XM_017004859.2:c.*3335C>T (VRK2) XP_016860348.1:n.*3335C>T
XM_017004860.2:c.*3335C>T (VRK2) XP_016860349.1:n.*3335C>T
XM_017004861.2:c.*3335C>T (VRK2) XP_016860350.1:n.*3335C>T
XM_017004862.2:c.*3335C>T (VRK2) XP_016860351.1:n.*3335C>T
XM_017004863.2:c.*3335C>T (VRK2) XP_016860352.1:n.*3335C>T
XM_017004864.2:c.*3712C>T (VRK2) XP_016860353.1:n.*3712C>T
XM_017004865.1:c.*3720C>T (VRK2) XP_016860354.1:n.*3720C>T
XM_017004866.1:c.*3720C>T (VRK2) XP_016860355.1:n.*3720C>T
XR_001738802.2:n.849+406G>A (FANCL)
XR_001738803.2:n.834+406G>A (FANCL)
XR_002959309.1:n.1383G>A (FANCL)
XR_939692.1:n.902+406G>A (FANCL)
XR_939692.2:n.894+406G>A (FANCL)