Canonical Allele Identifier: CA1670531
Gene: FANCL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58165754G>A , CM000664.2:g.58165754G>A GRCh38
NC_000002.11:g.58392889G>A , CM000664.1:g.58392889G>A GRCh37
NC_000002.10:g.58246393G>A NCBI36
NG_007418.1:g.80626C>T , LRG_501:g.80626C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.676C>T ENSP00000385021.3:p.Arg226Trp
ENST00000403295.8:c.661C>T ENSP00000386097.3:p.Arg221Trp
ENST00000403676.6:c.*224C>T ENSP00000384046.2:n.*224C>T
ENST00000417361.2:c.*239C>T ENSP00000389448.2:n.*239C>T
ENST00000427708.7:c.706C>T ENSP00000400969.3:p.Arg236Trp
ENST00000446381.6:c.217C>T ENSP00000390991.2:p.Arg73Trp
ENST00000449070.6:c.484C>T ENSP00000401280.2:p.Arg162Trp
ENST00000470506.2:n.735C>T
ENST00000696305.1:c.604C>T ENSP00000512543.1:p.Arg202Trp
ENST00000696306.1:c.*111C>T ENSP00000512544.1:n.*111C>T
ENST00000696307.1:c.661C>T ENSP00000512545.1:p.Arg221Trp
ENST00000696314.1:c.661C>T ENSP00000512552.1:p.Arg221Trp
ENST00000696315.1:c.*224C>T ENSP00000512553.1:n.*224C>T
ENST00000696316.1:c.661C>T ENSP00000512554.1:p.Arg221Trp
ENST00000696317.1:c.661C>T ENSP00000512555.1:p.Arg221Trp
ENST00000696318.1:c.217C>T ENSP00000512556.1:p.Arg73Trp
ENST00000696319.1:c.619C>T ENSP00000512557.1:p.Arg207Trp
ENST00000696320.1:n.673C>T
ENST00000696324.1:c.*239C>T ENSP00000512561.1:n.*239C>T
ENST00000696325.1:n.3744C>T
ENST00000696326.1:c.721C>T ENSP00000512562.1:p.Arg241Trp
ENST00000696338.1:n.694C>T
ENST00000696339.1:n.155C>T
ENST00000696340.1:n.681C>T
ENST00000696341.1:n.729C>T
ENST00000696342.1:c.*224C>T ENSP00000512569.1:n.*224C>T
ENST00000696343.1:n.2520C>T
ENST00000696344.1:c.*375C>T ENSP00000512570.1:n.*375C>T
ENST00000696345.1:n.688C>T
ENST00000696346.1:n.330C>T
ENST00000696358.1:n.688C>T
ENST00000696360.1:n.1365C>T
ENST00000696361.1:c.*224C>T ENSP00000512579.1:n.*224C>T
ENST00000696362.1:c.*111C>T ENSP00000512580.1:n.*111C>T
ENST00000696363.1:n.2438C>T
ENST00000696364.1:n.614C>T
ENST00000696371.1:c.652C>T ENSP00000512586.1:p.Arg218Trp
ENST00000696373.1:c.*224C>T ENSP00000512587.1:n.*224C>T
ENST00000696374.1:c.*111C>T ENSP00000512588.1:n.*111C>T
ENST00000696375.1:n.7154C>T
ENST00000696376.1:n.4780C>T
ENST00000696377.1:n.548C>T
ENST00000696378.1:c.*239C>T ENSP00000512589.1:n.*239C>T
ENST00000696379.1:c.*224C>T ENSP00000512590.1:n.*224C>T
ENST00000696380.1:n.441C>T
ENST00000696394.1:n.3723C>T
ENST00000696395.1:n.229C>T
ENST00000696396.1:n.1375C>T
ENST00000696397.1:n.2346C>T
ENST00000696398.1:c.661C>T ENSP00000512604.1:p.Arg221Trp
ENST00000696399.1:n.268C>T
ENST00000696400.1:c.*425C>T ENSP00000512605.1:n.*425C>T
ENST00000696401.1:n.643C>T
ENST00000696402.1:n.33C>T
ENST00000696409.1:c.*224C>T ENSP00000512610.1:n.*224C>T
ENST00000696410.1:c.*224C>T ENSP00000512611.1:n.*224C>T
ENST00000696411.1:n.285C>T
ENST00000696412.1:n.1160C>T
ENST00000696413.1:n.791C>T
ENST00000696414.1:n.1267C>T
ENST00000696415.1:c.676C>T ENSP00000512612.1:p.Arg226Trp
ENST00000696416.1:n.229C>T
ENST00000696417.1:c.*391C>T ENSP00000512613.1:n.*391C>T
ENST00000696432.1:n.3120C>T
ENST00000696433.1:c.217C>T ENSP00000512627.1:p.Arg73Trp
ENST00000696434.1:c.499C>T ENSP00000512628.1:p.Arg167Trp
ENST00000696435.1:c.217C>T ENSP00000512629.1:p.Arg73Trp
ENST00000696436.1:n.697C>T
ENST00000696437.1:n.1078C>T
ENST00000696438.1:c.*494C>T ENSP00000512630.1:n.*494C>T
ENST00000696439.1:n.2710C>T
ENST00000696440.1:n.1825C>T
ENST00000696454.1:c.*224C>T ENSP00000512641.1:n.*224C>T
ENST00000696455.1:c.499C>T ENSP00000512642.1:p.Arg167Trp
ENST00000696457.1:c.217C>T ENSP00000512643.1:p.Arg73Trp
ENST00000696458.1:c.604C>T ENSP00000512644.1:p.Arg202Trp
ENST00000696459.1:c.*224C>T ENSP00000512645.1:n.*224C>T
ENST00000696460.1:n.718C>T
ENST00000696467.1:c.*239C>T ENSP00000512648.1:n.*239C>T
ENST00000696468.1:c.*153C>T ENSP00000512649.1:n.*153C>T
ENST00000696469.1:c.676C>T ENSP00000512650.1:p.Arg226Trp
ENST00000696470.1:n.183C>T
ENST00000696471.1:n.331C>T
ENST00000696472.1:c.676C>T ENSP00000512651.1:p.Arg226Trp
ENST00000696473.1:c.*344C>T ENSP00000512652.1:n.*344C>T
ENST00000696474.1:n.583C>T
ENST00000696475.1:n.2297C>T
ENST00000696492.1:c.*326C>T ENSP00000512662.1:n.*326C>T
ENST00000696493.1:c.*509C>T ENSP00000512663.1:n.*509C>T
ENST00000696494.1:n.821C>T
ENST00000696495.1:c.*407C>T ENSP00000512664.1:n.*407C>T
ENST00000696496.1:n.760C>T
ENST00000696497.1:n.3958C>T
ENST00000696498.1:n.1548C>T
ENST00000696499.1:c.*98C>T ENSP00000512665.1:n.*98C>T
ENST00000696508.1:c.*224C>T ENSP00000512674.1:n.*224C>T
ENST00000696509.1:c.*98C>T ENSP00000512675.1:n.*98C>T
ENST00000696510.1:c.217C>T ENSP00000512676.1:p.Arg73Trp
ENST00000696527.1:c.661C>T ENSP00000512690.1:p.Arg221Trp
ENST00000696528.1:c.604C>T ENSP00000512691.1:p.Arg202Trp
ENST00000696529.1:n.524C>T
ENST00000696530.1:c.457C>T ENSP00000512692.1:p.Arg153Trp
ENST00000696531.1:c.*239C>T ENSP00000512693.1:n.*239C>T
ENST00000696532.1:n.1808C>T
ENST00000696542.1:n.159C>T
ENST00000696543.1:c.484C>T ENSP00000512703.1:p.Arg162Trp
ENST00000696544.1:c.541C>T ENSP00000512704.1:p.Arg181Trp
ENST00000696545.1:c.*375C>T ENSP00000512705.1:n.*375C>T
ENST00000696546.1:c.*440C>T ENSP00000512706.1:n.*440C>T
ENST00000696547.1:c.649C>T ENSP00000512707.1:p.Arg217Trp
ENST00000696548.1:c.*425C>T ENSP00000512708.1:n.*425C>T
ENST00000696564.1:c.706C>T ENSP00000512722.1:p.Arg236Trp
ENST00000696565.1:c.721C>T ENSP00000512723.1:p.Arg241Trp
ENST00000696566.1:n.603C>T
ENST00000696567.1:c.661C>T ENSP00000512724.1:p.Arg221Trp
ENST00000696569.1:n.689C>T
ENST00000696570.1:c.*111C>T ENSP00000512725.1:n.*111C>T
ENST00000696594.1:c.661C>T ENSP00000512739.1:p.Arg221Trp
ENST00000696595.1:c.604C>T ENSP00000512740.1:p.Arg202Trp
ENST00000696619.1:n.1777C>T
ENST00000696620.1:c.337C>T ENSP00000512759.1:p.Arg113Trp
ENST00000696621.1:c.661C>T ENSP00000512760.1:p.Arg221Trp
ENST00000696622.1:n.725C>T
ENST00000696623.1:n.546C>T
ENST00000696624.1:c.676C>T ENSP00000512761.1:p.Arg226Trp
ENST00000696625.1:c.*111C>T ENSP00000512762.1:n.*111C>T
ENST00000696634.1:c.398C>T ENSP00000512770.1:n.398C>T
ENST00000696635.1:c.661C>T ENSP00000512771.1:p.Arg221Trp
ENST00000696636.1:n.1446C>T
ENST00000696637.1:n.5088C>T
ENST00000696638.1:n.676C>T
ENST00000696639.1:n.93C>T
ENST00000233741.9:c.661C>T MANE Select ENSP00000233741.5:p.Arg221Trp
ENST00000233741.8:c.661C>T ENSP00000233741.4:p.Arg221Trp
ENST00000402135.7:c.676C>T ENSP00000385021.3:p.Arg226Trp
ENST00000403295.7:c.661C>T ENSP00000386097.3:p.Arg221Trp
ENST00000403676.5:c.310C>T ENSP00000384046.1:p.Arg104Trp
ENST00000417361.1:c.325C>T ENSP00000389448.1:p.Arg109Trp
ENST00000427708.6:c.704C>T
ENST00000446381.5:c.217C>T ENSP00000390991.1:p.Arg73Trp
ENST00000449070.5:c.484C>T ENSP00000401280.1:p.Arg162Trp
ENST00000470506.1:n.50C>T
NM_001114636.1:c.676C>T , LRG_501t1:c.676C>T NP_001108108.1:p.Arg226Trp
NM_018062.3:c.661C>T , LRG_501t2:c.661C>T NP_060532.2:p.Arg221Trp
XM_005264395.2:c.661C>T XP_005264452.1:p.Arg221Trp
XM_005264397.3:c.310C>T XP_005264454.1:p.Arg104Trp
XM_011532939.1:c.721C>T XP_011531241.1:p.Arg241Trp
XM_011532940.1:c.706C>T XP_011531242.1:p.Arg236Trp
XM_011532941.1:c.721C>T XP_011531243.1:p.Arg241Trp
XM_011532942.1:c.676C>T XP_011531244.1:p.Arg226Trp
XM_011532943.1:c.922C>T XP_011531245.1:p.Arg308Trp
XM_011532944.1:c.370C>T XP_011531246.1:p.Arg124Trp
XM_011532945.1:c.325C>T XP_011531247.1:p.Arg109Trp
XR_939692.1:n.788C>T
NR_156742.1:n.450C>T
XM_005264395.4:c.661C>T XP_005264452.1:p.Arg221Trp
XM_011532939.3:c.721C>T XP_011531241.1:p.Arg241Trp
XM_011532940.3:c.706C>T XP_011531242.1:p.Arg236Trp
XM_011532941.2:c.721C>T XP_011531243.1:p.Arg241Trp
XM_011532942.3:c.676C>T XP_011531244.1:p.Arg226Trp
XM_011532944.2:c.370C>T XP_011531246.1:p.Arg124Trp
XM_011532945.2:c.325C>T XP_011531247.1:p.Arg109Trp
XM_017004414.2:c.706C>T XP_016859903.1:p.Arg236Trp
XM_017004416.1:c.310C>T XP_016859905.1:p.Arg104Trp
XR_001738802.2:n.735C>T
XR_001738803.2:n.720C>T
XR_002959309.1:n.863C>T
XR_939692.2:n.780C>T
NM_001374615.1:c.706C>T NP_001361544.1:p.Arg236Trp
NM_018062.4:c.661C>T MANE Select NP_060532.2:p.Arg221Trp
NR_164659.1:n.670C>T