Canonical Allele Identifier: CA346937048

Gene: FANCL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58165780C>T , CM000664.2:g.58165780C>T	GRCh38
NC_000002.11:g.58392915C>T , CM000664.1:g.58392915C>T	GRCh37
NC_000002.10:g.58246419C>T	NCBI36
NG_007418.1:g.80600G>A , LRG_501:g.80600G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018062.4:c.635G>A MANE Select	NP_060532.2:p.Trp212Ter
ENST00000233741.9:c.635G>A MANE Select	ENSP00000233741.5:p.Trp212Ter
NM_001114636.1:c.650G>A , LRG_501t1:c.650G>A	NP_001108108.1:p.Trp217Ter
NM_001374615.1:c.680G>A	NP_001361544.1:p.Trp227Ter
NM_018062.3:c.635G>A , LRG_501t2:c.635G>A	NP_060532.2:p.Trp212Ter
NR_156742.1:n.424G>A
NR_164659.1:n.644G>A
ENST00000233741.8:c.635G>A	ENSP00000233741.4:p.Trp212Ter
ENST00000402135.7:c.650G>A	ENSP00000385021.3:p.Trp217Ter
ENST00000402135.8:c.650G>A	ENSP00000385021.3:p.Trp217Ter
ENST00000403295.7:c.635G>A	ENSP00000386097.3:p.Trp212Ter
ENST00000403295.8:c.635G>A	ENSP00000386097.3:p.Trp212Ter
ENST00000403676.5:c.284G>A	ENSP00000384046.1:p.Trp95Ter
ENST00000403676.6:c.*198G>A	ENSP00000384046.2:n.*198G>A
ENST00000417361.1:c.299G>A	ENSP00000389448.1:p.Trp100Ter
ENST00000417361.2:c.*213G>A	ENSP00000389448.2:n.*213G>A
ENST00000427708.6:c.678G>A
ENST00000427708.7:c.680G>A	ENSP00000400969.3:p.Trp227Ter
ENST00000446381.5:c.191G>A	ENSP00000390991.1:p.Trp64Ter
ENST00000446381.6:c.191G>A	ENSP00000390991.2:p.Trp64Ter
ENST00000449070.5:c.458G>A	ENSP00000401280.1:p.Trp153Ter
ENST00000449070.6:c.458G>A	ENSP00000401280.2:p.Trp153Ter
ENST00000470506.1:n.24G>A
ENST00000470506.2:n.709G>A
ENST00000696305.1:c.578G>A	ENSP00000512543.1:p.Trp193Ter
ENST00000696306.1:c.*85G>A	ENSP00000512544.1:n.*85G>A
ENST00000696307.1:c.635G>A	ENSP00000512545.1:p.Trp212Ter
ENST00000696314.1:c.635G>A	ENSP00000512552.1:p.Trp212Ter
ENST00000696315.1:c.*198G>A	ENSP00000512553.1:n.*198G>A
ENST00000696316.1:c.635G>A	ENSP00000512554.1:p.Trp212Ter
ENST00000696317.1:c.635G>A	ENSP00000512555.1:p.Trp212Ter
ENST00000696318.1:c.191G>A	ENSP00000512556.1:p.Trp64Ter
ENST00000696319.1:c.593G>A	ENSP00000512557.1:p.Trp198Ter
ENST00000696320.1:n.647G>A
ENST00000696324.1:c.*213G>A	ENSP00000512561.1:n.*213G>A
ENST00000696325.1:n.3718G>A
ENST00000696326.1:c.695G>A	ENSP00000512562.1:p.Trp232Ter
ENST00000696338.1:n.668G>A
ENST00000696339.1:n.129G>A
ENST00000696340.1:n.655G>A
ENST00000696341.1:n.703G>A
ENST00000696342.1:c.*198G>A	ENSP00000512569.1:n.*198G>A
ENST00000696343.1:n.2494G>A
ENST00000696344.1:c.*349G>A	ENSP00000512570.1:n.*349G>A
ENST00000696345.1:n.662G>A
ENST00000696346.1:n.304G>A
ENST00000696358.1:n.662G>A
ENST00000696360.1:n.1339G>A
ENST00000696361.1:c.*198G>A	ENSP00000512579.1:n.*198G>A
ENST00000696362.1:c.*85G>A	ENSP00000512580.1:n.*85G>A
ENST00000696363.1:n.2412G>A
ENST00000696364.1:n.588G>A
ENST00000696371.1:c.626G>A	ENSP00000512586.1:p.Trp209Ter
ENST00000696373.1:c.*198G>A	ENSP00000512587.1:n.*198G>A
ENST00000696374.1:c.*85G>A	ENSP00000512588.1:n.*85G>A
ENST00000696375.1:n.7128G>A
ENST00000696376.1:n.4754G>A
ENST00000696377.1:n.522G>A
ENST00000696378.1:c.*213G>A	ENSP00000512589.1:n.*213G>A
ENST00000696379.1:c.*198G>A	ENSP00000512590.1:n.*198G>A
ENST00000696380.1:n.415G>A
ENST00000696394.1:n.3697G>A
ENST00000696395.1:n.203G>A
ENST00000696396.1:n.1349G>A
ENST00000696397.1:n.2320G>A
ENST00000696398.1:c.635G>A	ENSP00000512604.1:p.Trp212Ter
ENST00000696399.1:n.242G>A
ENST00000696400.1:c.*399G>A	ENSP00000512605.1:n.*399G>A
ENST00000696401.1:n.617G>A
ENST00000696402.1:n.7G>A
ENST00000696409.1:c.*198G>A	ENSP00000512610.1:n.*198G>A
ENST00000696410.1:c.*198G>A	ENSP00000512611.1:n.*198G>A
ENST00000696411.1:n.259G>A
ENST00000696412.1:n.1134G>A
ENST00000696413.1:n.765G>A
ENST00000696414.1:n.1241G>A
ENST00000696415.1:c.650G>A	ENSP00000512612.1:p.Trp217Ter
ENST00000696416.1:n.203G>A
ENST00000696417.1:c.*365G>A	ENSP00000512613.1:n.*365G>A
ENST00000696432.1:n.3094G>A
ENST00000696433.1:c.191G>A	ENSP00000512627.1:p.Trp64Ter
ENST00000696434.1:c.473G>A	ENSP00000512628.1:p.Trp158Ter
ENST00000696435.1:c.191G>A	ENSP00000512629.1:p.Trp64Ter
ENST00000696436.1:n.671G>A
ENST00000696437.1:n.1052G>A
ENST00000696438.1:c.*468G>A	ENSP00000512630.1:n.*468G>A
ENST00000696439.1:n.2684G>A
ENST00000696440.1:n.1799G>A
ENST00000696454.1:c.*198G>A	ENSP00000512641.1:n.*198G>A
ENST00000696455.1:c.473G>A	ENSP00000512642.1:p.Trp158Ter
ENST00000696457.1:c.191G>A	ENSP00000512643.1:p.Trp64Ter
ENST00000696458.1:c.578G>A	ENSP00000512644.1:p.Trp193Ter
ENST00000696459.1:c.*198G>A	ENSP00000512645.1:n.*198G>A
ENST00000696460.1:n.692G>A
ENST00000696467.1:c.*213G>A	ENSP00000512648.1:n.*213G>A
ENST00000696468.1:c.*127G>A	ENSP00000512649.1:n.*127G>A
ENST00000696469.1:c.650G>A	ENSP00000512650.1:p.Trp217Ter
ENST00000696470.1:n.157G>A
ENST00000696471.1:n.305G>A
ENST00000696472.1:c.650G>A	ENSP00000512651.1:p.Trp217Ter
ENST00000696473.1:c.*318G>A	ENSP00000512652.1:n.*318G>A
ENST00000696474.1:n.557G>A
ENST00000696475.1:n.2271G>A
ENST00000696492.1:c.*300G>A	ENSP00000512662.1:n.*300G>A
ENST00000696493.1:c.*483G>A	ENSP00000512663.1:n.*483G>A
ENST00000696494.1:n.795G>A
ENST00000696495.1:c.*381G>A	ENSP00000512664.1:n.*381G>A
ENST00000696496.1:n.734G>A
ENST00000696497.1:n.3932G>A
ENST00000696498.1:n.1522G>A
ENST00000696499.1:c.*72G>A	ENSP00000512665.1:n.*72G>A
ENST00000696508.1:c.*198G>A	ENSP00000512674.1:n.*198G>A
ENST00000696509.1:c.*72G>A	ENSP00000512675.1:n.*72G>A
ENST00000696510.1:c.191G>A	ENSP00000512676.1:p.Trp64Ter
ENST00000696527.1:c.635G>A	ENSP00000512690.1:p.Trp212Ter
ENST00000696528.1:c.578G>A	ENSP00000512691.1:p.Trp193Ter
ENST00000696529.1:n.498G>A
ENST00000696530.1:c.431G>A	ENSP00000512692.1:p.Trp144Ter
ENST00000696531.1:c.*213G>A	ENSP00000512693.1:n.*213G>A
ENST00000696532.1:n.1782G>A
ENST00000696542.1:n.133G>A
ENST00000696543.1:c.458G>A	ENSP00000512703.1:p.Trp153Ter
ENST00000696544.1:c.515G>A	ENSP00000512704.1:p.Trp172Ter
ENST00000696545.1:c.*349G>A	ENSP00000512705.1:n.*349G>A
ENST00000696546.1:c.*414G>A	ENSP00000512706.1:n.*414G>A
ENST00000696547.1:c.623G>A	ENSP00000512707.1:p.Trp208Ter
ENST00000696548.1:c.*399G>A	ENSP00000512708.1:n.*399G>A
ENST00000696564.1:c.680G>A	ENSP00000512722.1:p.Trp227Ter
ENST00000696565.1:c.695G>A	ENSP00000512723.1:p.Trp232Ter
ENST00000696566.1:n.577G>A
ENST00000696567.1:c.635G>A	ENSP00000512724.1:p.Trp212Ter
ENST00000696569.1:n.663G>A
ENST00000696570.1:c.*85G>A	ENSP00000512725.1:n.*85G>A
ENST00000696594.1:c.635G>A	ENSP00000512739.1:p.Trp212Ter
ENST00000696595.1:c.578G>A	ENSP00000512740.1:p.Trp193Ter
ENST00000696619.1:n.1751G>A
ENST00000696620.1:c.311G>A	ENSP00000512759.1:p.Trp104Ter
ENST00000696621.1:c.635G>A	ENSP00000512760.1:p.Trp212Ter
ENST00000696622.1:n.699G>A
ENST00000696623.1:n.520G>A
ENST00000696624.1:c.650G>A	ENSP00000512761.1:p.Trp217Ter
ENST00000696625.1:c.*85G>A	ENSP00000512762.1:n.*85G>A
ENST00000696634.1:c.372G>A	ENSP00000512770.1:n.372G>A
ENST00000696635.1:c.635G>A	ENSP00000512771.1:p.Trp212Ter
ENST00000696636.1:n.1420G>A
ENST00000696637.1:n.5062G>A
ENST00000696638.1:n.650G>A
ENST00000696639.1:n.67G>A
XM_005264395.2:c.635G>A	XP_005264452.1:p.Trp212Ter
XM_005264395.4:c.635G>A	XP_005264452.1:p.Trp212Ter
XM_005264397.3:c.284G>A	XP_005264454.1:p.Trp95Ter
XM_011532939.1:c.695G>A	XP_011531241.1:p.Trp232Ter
XM_011532939.3:c.695G>A	XP_011531241.1:p.Trp232Ter
XM_011532940.1:c.680G>A	XP_011531242.1:p.Trp227Ter
XM_011532940.3:c.680G>A	XP_011531242.1:p.Trp227Ter
XM_011532941.1:c.695G>A	XP_011531243.1:p.Trp232Ter
XM_011532941.2:c.695G>A	XP_011531243.1:p.Trp232Ter
XM_011532942.1:c.650G>A	XP_011531244.1:p.Trp217Ter
XM_011532942.3:c.650G>A	XP_011531244.1:p.Trp217Ter
XM_011532943.1:c.896G>A	XP_011531245.1:p.Trp299Ter
XM_011532944.1:c.344G>A	XP_011531246.1:p.Trp115Ter
XM_011532944.2:c.344G>A	XP_011531246.1:p.Trp115Ter
XM_011532945.1:c.299G>A	XP_011531247.1:p.Trp100Ter
XM_011532945.2:c.299G>A	XP_011531247.1:p.Trp100Ter
XM_017004414.2:c.680G>A	XP_016859903.1:p.Trp227Ter
XM_017004416.1:c.284G>A	XP_016859905.1:p.Trp95Ter
XR_001738802.2:n.709G>A
XR_001738803.2:n.694G>A
XR_002959309.1:n.837G>A
XR_939692.1:n.762G>A
XR_939692.2:n.754G>A