Canonical Allele Identifier: CA346937036

Gene: FANCL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58165779C>T , CM000664.2:g.58165779C>T	GRCh38
NC_000002.11:g.58392914C>T , CM000664.1:g.58392914C>T	GRCh37
NC_000002.10:g.58246418C>T	NCBI36
NG_007418.1:g.80601G>A , LRG_501:g.80601G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018062.4:c.636G>A MANE Select	NP_060532.2:p.Trp212Ter
ENST00000233741.9:c.636G>A MANE Select	ENSP00000233741.5:p.Trp212Ter
NM_001114636.1:c.651G>A , LRG_501t1:c.651G>A	NP_001108108.1:p.Trp217Ter
NM_001374615.1:c.681G>A	NP_001361544.1:p.Trp227Ter
NM_018062.3:c.636G>A , LRG_501t2:c.636G>A	NP_060532.2:p.Trp212Ter
NR_156742.1:n.425G>A
NR_164659.1:n.645G>A
ENST00000233741.8:c.636G>A	ENSP00000233741.4:p.Trp212Ter
ENST00000402135.7:c.651G>A	ENSP00000385021.3:p.Trp217Ter
ENST00000402135.8:c.651G>A	ENSP00000385021.3:p.Trp217Ter
ENST00000403295.7:c.636G>A	ENSP00000386097.3:p.Trp212Ter
ENST00000403295.8:c.636G>A	ENSP00000386097.3:p.Trp212Ter
ENST00000403676.5:c.285G>A	ENSP00000384046.1:p.Trp95Ter
ENST00000403676.6:c.*199G>A	ENSP00000384046.2:n.*199G>A
ENST00000417361.1:c.300G>A	ENSP00000389448.1:p.Trp100Ter
ENST00000417361.2:c.*214G>A	ENSP00000389448.2:n.*214G>A
ENST00000427708.6:c.679G>A
ENST00000427708.7:c.681G>A	ENSP00000400969.3:p.Trp227Ter
ENST00000446381.5:c.192G>A	ENSP00000390991.1:p.Trp64Ter
ENST00000446381.6:c.192G>A	ENSP00000390991.2:p.Trp64Ter
ENST00000449070.5:c.459G>A	ENSP00000401280.1:p.Trp153Ter
ENST00000449070.6:c.459G>A	ENSP00000401280.2:p.Trp153Ter
ENST00000470506.1:n.25G>A
ENST00000470506.2:n.710G>A
ENST00000696305.1:c.579G>A	ENSP00000512543.1:p.Trp193Ter
ENST00000696306.1:c.*86G>A	ENSP00000512544.1:n.*86G>A
ENST00000696307.1:c.636G>A	ENSP00000512545.1:p.Trp212Ter
ENST00000696314.1:c.636G>A	ENSP00000512552.1:p.Trp212Ter
ENST00000696315.1:c.*199G>A	ENSP00000512553.1:n.*199G>A
ENST00000696316.1:c.636G>A	ENSP00000512554.1:p.Trp212Ter
ENST00000696317.1:c.636G>A	ENSP00000512555.1:p.Trp212Ter
ENST00000696318.1:c.192G>A	ENSP00000512556.1:p.Trp64Ter
ENST00000696319.1:c.594G>A	ENSP00000512557.1:p.Trp198Ter
ENST00000696320.1:n.648G>A
ENST00000696324.1:c.*214G>A	ENSP00000512561.1:n.*214G>A
ENST00000696325.1:n.3719G>A
ENST00000696326.1:c.696G>A	ENSP00000512562.1:p.Trp232Ter
ENST00000696338.1:n.669G>A
ENST00000696339.1:n.130G>A
ENST00000696340.1:n.656G>A
ENST00000696341.1:n.704G>A
ENST00000696342.1:c.*199G>A	ENSP00000512569.1:n.*199G>A
ENST00000696343.1:n.2495G>A
ENST00000696344.1:c.*350G>A	ENSP00000512570.1:n.*350G>A
ENST00000696345.1:n.663G>A
ENST00000696346.1:n.305G>A
ENST00000696358.1:n.663G>A
ENST00000696360.1:n.1340G>A
ENST00000696361.1:c.*199G>A	ENSP00000512579.1:n.*199G>A
ENST00000696362.1:c.*86G>A	ENSP00000512580.1:n.*86G>A
ENST00000696363.1:n.2413G>A
ENST00000696364.1:n.589G>A
ENST00000696371.1:c.627G>A	ENSP00000512586.1:p.Trp209Ter
ENST00000696373.1:c.*199G>A	ENSP00000512587.1:n.*199G>A
ENST00000696374.1:c.*86G>A	ENSP00000512588.1:n.*86G>A
ENST00000696375.1:n.7129G>A
ENST00000696376.1:n.4755G>A
ENST00000696377.1:n.523G>A
ENST00000696378.1:c.*214G>A	ENSP00000512589.1:n.*214G>A
ENST00000696379.1:c.*199G>A	ENSP00000512590.1:n.*199G>A
ENST00000696380.1:n.416G>A
ENST00000696394.1:n.3698G>A
ENST00000696395.1:n.204G>A
ENST00000696396.1:n.1350G>A
ENST00000696397.1:n.2321G>A
ENST00000696398.1:c.636G>A	ENSP00000512604.1:p.Trp212Ter
ENST00000696399.1:n.243G>A
ENST00000696400.1:c.*400G>A	ENSP00000512605.1:n.*400G>A
ENST00000696401.1:n.618G>A
ENST00000696402.1:n.8G>A
ENST00000696409.1:c.*199G>A	ENSP00000512610.1:n.*199G>A
ENST00000696410.1:c.*199G>A	ENSP00000512611.1:n.*199G>A
ENST00000696411.1:n.260G>A
ENST00000696412.1:n.1135G>A
ENST00000696413.1:n.766G>A
ENST00000696414.1:n.1242G>A
ENST00000696415.1:c.651G>A	ENSP00000512612.1:p.Trp217Ter
ENST00000696416.1:n.204G>A
ENST00000696417.1:c.*366G>A	ENSP00000512613.1:n.*366G>A
ENST00000696432.1:n.3095G>A
ENST00000696433.1:c.192G>A	ENSP00000512627.1:p.Trp64Ter
ENST00000696434.1:c.474G>A	ENSP00000512628.1:p.Trp158Ter
ENST00000696435.1:c.192G>A	ENSP00000512629.1:p.Trp64Ter
ENST00000696436.1:n.672G>A
ENST00000696437.1:n.1053G>A
ENST00000696438.1:c.*469G>A	ENSP00000512630.1:n.*469G>A
ENST00000696439.1:n.2685G>A
ENST00000696440.1:n.1800G>A
ENST00000696454.1:c.*199G>A	ENSP00000512641.1:n.*199G>A
ENST00000696455.1:c.474G>A	ENSP00000512642.1:p.Trp158Ter
ENST00000696457.1:c.192G>A	ENSP00000512643.1:p.Trp64Ter
ENST00000696458.1:c.579G>A	ENSP00000512644.1:p.Trp193Ter
ENST00000696459.1:c.*199G>A	ENSP00000512645.1:n.*199G>A
ENST00000696460.1:n.693G>A
ENST00000696467.1:c.*214G>A	ENSP00000512648.1:n.*214G>A
ENST00000696468.1:c.*128G>A	ENSP00000512649.1:n.*128G>A
ENST00000696469.1:c.651G>A	ENSP00000512650.1:p.Trp217Ter
ENST00000696470.1:n.158G>A
ENST00000696471.1:n.306G>A
ENST00000696472.1:c.651G>A	ENSP00000512651.1:p.Trp217Ter
ENST00000696473.1:c.*319G>A	ENSP00000512652.1:n.*319G>A
ENST00000696474.1:n.558G>A
ENST00000696475.1:n.2272G>A
ENST00000696492.1:c.*301G>A	ENSP00000512662.1:n.*301G>A
ENST00000696493.1:c.*484G>A	ENSP00000512663.1:n.*484G>A
ENST00000696494.1:n.796G>A
ENST00000696495.1:c.*382G>A	ENSP00000512664.1:n.*382G>A
ENST00000696496.1:n.735G>A
ENST00000696497.1:n.3933G>A
ENST00000696498.1:n.1523G>A
ENST00000696499.1:c.*73G>A	ENSP00000512665.1:n.*73G>A
ENST00000696508.1:c.*199G>A	ENSP00000512674.1:n.*199G>A
ENST00000696509.1:c.*73G>A	ENSP00000512675.1:n.*73G>A
ENST00000696510.1:c.192G>A	ENSP00000512676.1:p.Trp64Ter
ENST00000696527.1:c.636G>A	ENSP00000512690.1:p.Trp212Ter
ENST00000696528.1:c.579G>A	ENSP00000512691.1:p.Trp193Ter
ENST00000696529.1:n.499G>A
ENST00000696530.1:c.432G>A	ENSP00000512692.1:p.Trp144Ter
ENST00000696531.1:c.*214G>A	ENSP00000512693.1:n.*214G>A
ENST00000696532.1:n.1783G>A
ENST00000696542.1:n.134G>A
ENST00000696543.1:c.459G>A	ENSP00000512703.1:p.Trp153Ter
ENST00000696544.1:c.516G>A	ENSP00000512704.1:p.Trp172Ter
ENST00000696545.1:c.*350G>A	ENSP00000512705.1:n.*350G>A
ENST00000696546.1:c.*415G>A	ENSP00000512706.1:n.*415G>A
ENST00000696547.1:c.624G>A	ENSP00000512707.1:p.Trp208Ter
ENST00000696548.1:c.*400G>A	ENSP00000512708.1:n.*400G>A
ENST00000696564.1:c.681G>A	ENSP00000512722.1:p.Trp227Ter
ENST00000696565.1:c.696G>A	ENSP00000512723.1:p.Trp232Ter
ENST00000696566.1:n.578G>A
ENST00000696567.1:c.636G>A	ENSP00000512724.1:p.Trp212Ter
ENST00000696569.1:n.664G>A
ENST00000696570.1:c.*86G>A	ENSP00000512725.1:n.*86G>A
ENST00000696594.1:c.636G>A	ENSP00000512739.1:p.Trp212Ter
ENST00000696595.1:c.579G>A	ENSP00000512740.1:p.Trp193Ter
ENST00000696619.1:n.1752G>A
ENST00000696620.1:c.312G>A	ENSP00000512759.1:p.Trp104Ter
ENST00000696621.1:c.636G>A	ENSP00000512760.1:p.Trp212Ter
ENST00000696622.1:n.700G>A
ENST00000696623.1:n.521G>A
ENST00000696624.1:c.651G>A	ENSP00000512761.1:p.Trp217Ter
ENST00000696625.1:c.*86G>A	ENSP00000512762.1:n.*86G>A
ENST00000696634.1:c.373G>A	ENSP00000512770.1:n.373G>A
ENST00000696635.1:c.636G>A	ENSP00000512771.1:p.Trp212Ter
ENST00000696636.1:n.1421G>A
ENST00000696637.1:n.5063G>A
ENST00000696638.1:n.651G>A
ENST00000696639.1:n.68G>A
XM_005264395.2:c.636G>A	XP_005264452.1:p.Trp212Ter
XM_005264395.4:c.636G>A	XP_005264452.1:p.Trp212Ter
XM_005264397.3:c.285G>A	XP_005264454.1:p.Trp95Ter
XM_011532939.1:c.696G>A	XP_011531241.1:p.Trp232Ter
XM_011532939.3:c.696G>A	XP_011531241.1:p.Trp232Ter
XM_011532940.1:c.681G>A	XP_011531242.1:p.Trp227Ter
XM_011532940.3:c.681G>A	XP_011531242.1:p.Trp227Ter
XM_011532941.1:c.696G>A	XP_011531243.1:p.Trp232Ter
XM_011532941.2:c.696G>A	XP_011531243.1:p.Trp232Ter
XM_011532942.1:c.651G>A	XP_011531244.1:p.Trp217Ter
XM_011532942.3:c.651G>A	XP_011531244.1:p.Trp217Ter
XM_011532943.1:c.897G>A	XP_011531245.1:p.Trp299Ter
XM_011532944.1:c.345G>A	XP_011531246.1:p.Trp115Ter
XM_011532944.2:c.345G>A	XP_011531246.1:p.Trp115Ter
XM_011532945.1:c.300G>A	XP_011531247.1:p.Trp100Ter
XM_011532945.2:c.300G>A	XP_011531247.1:p.Trp100Ter
XM_017004414.2:c.681G>A	XP_016859903.1:p.Trp227Ter
XM_017004416.1:c.285G>A	XP_016859905.1:p.Trp95Ter
XR_001738802.2:n.710G>A
XR_001738803.2:n.695G>A
XR_002959309.1:n.838G>A
XR_939692.1:n.763G>A
XR_939692.2:n.755G>A