Canonical Allele Identifier: CA346937346
Community Standard Title: NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
Gene: FANCL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58165799C>A , CM000664.2:g.58165799C>A GRCh38
NC_000002.11:g.58392934C>A , CM000664.1:g.58392934C>A GRCh37
NC_000002.10:g.58246438C>A NCBI36
NG_007418.1:g.80581G>T , LRG_501:g.80581G>T

Transcript Alleles

HGVS Amino-acid Change
NM_018062.4:c.616G>T MANE Select NP_060532.2:p.Glu206Ter
ENST00000233741.9:c.616G>T MANE Select ENSP00000233741.5:p.Glu206Ter
NM_001114636.1:c.631G>T , LRG_501t1:c.631G>T NP_001108108.1:p.Glu211Ter
NM_001374615.1:c.661G>T NP_001361544.1:p.Glu221Ter
NM_018062.3:c.616G>T , LRG_501t2:c.616G>T NP_060532.2:p.Glu206Ter
NR_156742.1:n.405G>T
NR_164659.1:n.625G>T
ENST00000233741.8:c.616G>T ENSP00000233741.4:p.Glu206Ter
ENST00000402135.7:c.631G>T ENSP00000385021.3:p.Glu211Ter
ENST00000402135.8:c.631G>T ENSP00000385021.3:p.Glu211Ter
ENST00000403295.7:c.616G>T ENSP00000386097.3:p.Glu206Ter
ENST00000403295.8:c.616G>T ENSP00000386097.3:p.Glu206Ter
ENST00000403676.5:c.265G>T ENSP00000384046.1:p.Glu89Ter
ENST00000403676.6:c.*179G>T ENSP00000384046.2:n.*179G>T
ENST00000417361.1:c.280G>T ENSP00000389448.1:p.Glu94Ter
ENST00000417361.2:c.*194G>T ENSP00000389448.2:n.*194G>T
ENST00000427708.6:c.659G>T
ENST00000427708.7:c.661G>T ENSP00000400969.3:p.Glu221Ter
ENST00000446381.5:c.172G>T ENSP00000390991.1:p.Glu58Ter
ENST00000446381.6:c.172G>T ENSP00000390991.2:p.Glu58Ter
ENST00000449070.5:c.439G>T ENSP00000401280.1:p.Glu147Ter
ENST00000449070.6:c.439G>T ENSP00000401280.2:p.Glu147Ter
ENST00000470506.1:n.5G>T
ENST00000470506.2:n.690G>T
ENST00000696305.1:c.559G>T ENSP00000512543.1:p.Glu187Ter
ENST00000696306.1:c.*66G>T ENSP00000512544.1:n.*66G>T
ENST00000696307.1:c.616G>T ENSP00000512545.1:p.Glu206Ter
ENST00000696314.1:c.616G>T ENSP00000512552.1:p.Glu206Ter
ENST00000696315.1:c.*179G>T ENSP00000512553.1:n.*179G>T
ENST00000696316.1:c.616G>T ENSP00000512554.1:p.Glu206Ter
ENST00000696317.1:c.616G>T ENSP00000512555.1:p.Glu206Ter
ENST00000696318.1:c.172G>T ENSP00000512556.1:p.Glu58Ter
ENST00000696319.1:c.574G>T ENSP00000512557.1:p.Glu192Ter
ENST00000696320.1:n.628G>T
ENST00000696324.1:c.*194G>T ENSP00000512561.1:n.*194G>T
ENST00000696325.1:n.3699G>T
ENST00000696326.1:c.676G>T ENSP00000512562.1:p.Glu226Ter
ENST00000696338.1:n.649G>T
ENST00000696339.1:n.110G>T
ENST00000696340.1:n.636G>T
ENST00000696341.1:n.684G>T
ENST00000696342.1:c.*179G>T ENSP00000512569.1:n.*179G>T
ENST00000696343.1:n.2475G>T
ENST00000696344.1:c.*330G>T ENSP00000512570.1:n.*330G>T
ENST00000696345.1:n.643G>T
ENST00000696346.1:n.285G>T
ENST00000696358.1:n.643G>T
ENST00000696360.1:n.1320G>T
ENST00000696361.1:c.*179G>T ENSP00000512579.1:n.*179G>T
ENST00000696362.1:c.*66G>T ENSP00000512580.1:n.*66G>T
ENST00000696363.1:n.2393G>T
ENST00000696364.1:n.569G>T
ENST00000696371.1:c.607G>T ENSP00000512586.1:p.Glu203Ter
ENST00000696373.1:c.*179G>T ENSP00000512587.1:n.*179G>T
ENST00000696374.1:c.*66G>T ENSP00000512588.1:n.*66G>T
ENST00000696375.1:n.7109G>T
ENST00000696376.1:n.4735G>T
ENST00000696377.1:n.503G>T
ENST00000696378.1:c.*194G>T ENSP00000512589.1:n.*194G>T
ENST00000696379.1:c.*179G>T ENSP00000512590.1:n.*179G>T
ENST00000696380.1:n.396G>T
ENST00000696394.1:n.3678G>T
ENST00000696395.1:n.184G>T
ENST00000696396.1:n.1330G>T
ENST00000696397.1:n.2301G>T
ENST00000696398.1:c.616G>T ENSP00000512604.1:p.Glu206Ter
ENST00000696399.1:n.223G>T
ENST00000696400.1:c.*380G>T ENSP00000512605.1:n.*380G>T
ENST00000696401.1:n.598G>T
ENST00000696409.1:c.*179G>T ENSP00000512610.1:n.*179G>T
ENST00000696410.1:c.*179G>T ENSP00000512611.1:n.*179G>T
ENST00000696411.1:n.240G>T
ENST00000696412.1:n.1115G>T
ENST00000696413.1:n.746G>T
ENST00000696414.1:n.1222G>T
ENST00000696415.1:c.631G>T ENSP00000512612.1:p.Glu211Ter
ENST00000696416.1:n.184G>T
ENST00000696417.1:c.*346G>T ENSP00000512613.1:n.*346G>T
ENST00000696432.1:n.3075G>T
ENST00000696433.1:c.172G>T ENSP00000512627.1:p.Glu58Ter
ENST00000696434.1:c.454G>T ENSP00000512628.1:p.Glu152Ter
ENST00000696435.1:c.172G>T ENSP00000512629.1:p.Glu58Ter
ENST00000696436.1:n.652G>T
ENST00000696437.1:n.1033G>T
ENST00000696438.1:c.*449G>T ENSP00000512630.1:n.*449G>T
ENST00000696439.1:n.2665G>T
ENST00000696440.1:n.1780G>T
ENST00000696454.1:c.*179G>T ENSP00000512641.1:n.*179G>T
ENST00000696455.1:c.454G>T ENSP00000512642.1:p.Glu152Ter
ENST00000696457.1:c.172G>T ENSP00000512643.1:p.Glu58Ter
ENST00000696458.1:c.559G>T ENSP00000512644.1:p.Glu187Ter
ENST00000696459.1:c.*179G>T ENSP00000512645.1:n.*179G>T
ENST00000696460.1:n.673G>T
ENST00000696467.1:c.*194G>T ENSP00000512648.1:n.*194G>T
ENST00000696468.1:c.*108G>T ENSP00000512649.1:n.*108G>T
ENST00000696469.1:c.631G>T ENSP00000512650.1:p.Glu211Ter
ENST00000696470.1:n.138G>T
ENST00000696471.1:n.286G>T
ENST00000696472.1:c.631G>T ENSP00000512651.1:p.Glu211Ter
ENST00000696473.1:c.*299G>T ENSP00000512652.1:n.*299G>T
ENST00000696474.1:n.538G>T
ENST00000696475.1:n.2252G>T
ENST00000696492.1:c.*281G>T ENSP00000512662.1:n.*281G>T
ENST00000696493.1:c.*464G>T ENSP00000512663.1:n.*464G>T
ENST00000696494.1:n.776G>T
ENST00000696495.1:c.*362G>T ENSP00000512664.1:n.*362G>T
ENST00000696496.1:n.715G>T
ENST00000696497.1:n.3913G>T
ENST00000696498.1:n.1503G>T
ENST00000696499.1:c.*53G>T ENSP00000512665.1:n.*53G>T
ENST00000696508.1:c.*179G>T ENSP00000512674.1:n.*179G>T
ENST00000696509.1:c.*53G>T ENSP00000512675.1:n.*53G>T
ENST00000696510.1:c.172G>T ENSP00000512676.1:p.Glu58Ter
ENST00000696527.1:c.616G>T ENSP00000512690.1:p.Glu206Ter
ENST00000696528.1:c.559G>T ENSP00000512691.1:p.Glu187Ter
ENST00000696529.1:n.479G>T
ENST00000696530.1:c.412G>T ENSP00000512692.1:p.Glu138Ter
ENST00000696531.1:c.*194G>T ENSP00000512693.1:n.*194G>T
ENST00000696532.1:n.1763G>T
ENST00000696542.1:n.114G>T
ENST00000696543.1:c.439G>T ENSP00000512703.1:p.Glu147Ter
ENST00000696544.1:c.496G>T ENSP00000512704.1:p.Glu166Ter
ENST00000696545.1:c.*330G>T ENSP00000512705.1:n.*330G>T
ENST00000696546.1:c.*395G>T ENSP00000512706.1:n.*395G>T
ENST00000696547.1:c.604G>T ENSP00000512707.1:p.Glu202Ter
ENST00000696548.1:c.*380G>T ENSP00000512708.1:n.*380G>T
ENST00000696564.1:c.661G>T ENSP00000512722.1:p.Glu221Ter
ENST00000696565.1:c.676G>T ENSP00000512723.1:p.Glu226Ter
ENST00000696566.1:n.558G>T
ENST00000696567.1:c.616G>T ENSP00000512724.1:p.Glu206Ter
ENST00000696569.1:n.644G>T
ENST00000696570.1:c.*66G>T ENSP00000512725.1:n.*66G>T
ENST00000696594.1:c.616G>T ENSP00000512739.1:p.Glu206Ter
ENST00000696595.1:c.559G>T ENSP00000512740.1:p.Glu187Ter
ENST00000696619.1:n.1732G>T
ENST00000696620.1:c.292G>T ENSP00000512759.1:p.Glu98Ter
ENST00000696621.1:c.616G>T ENSP00000512760.1:p.Glu206Ter
ENST00000696622.1:n.680G>T
ENST00000696623.1:n.501G>T
ENST00000696624.1:c.631G>T ENSP00000512761.1:p.Glu211Ter
ENST00000696625.1:c.*66G>T ENSP00000512762.1:n.*66G>T
ENST00000696634.1:c.353G>T ENSP00000512770.1:n.353G>T
ENST00000696635.1:c.616G>T ENSP00000512771.1:p.Glu206Ter
ENST00000696636.1:n.1401G>T
ENST00000696637.1:n.5043G>T
ENST00000696638.1:n.631G>T
ENST00000696639.1:n.48G>T
XM_005264395.2:c.616G>T XP_005264452.1:p.Glu206Ter
XM_005264395.4:c.616G>T XP_005264452.1:p.Glu206Ter
XM_005264397.3:c.265G>T XP_005264454.1:p.Glu89Ter
XM_011532939.1:c.676G>T XP_011531241.1:p.Glu226Ter
XM_011532939.3:c.676G>T XP_011531241.1:p.Glu226Ter
XM_011532940.1:c.661G>T XP_011531242.1:p.Glu221Ter
XM_011532940.3:c.661G>T XP_011531242.1:p.Glu221Ter
XM_011532941.1:c.676G>T XP_011531243.1:p.Glu226Ter
XM_011532941.2:c.676G>T XP_011531243.1:p.Glu226Ter
XM_011532942.1:c.631G>T XP_011531244.1:p.Glu211Ter
XM_011532942.3:c.631G>T XP_011531244.1:p.Glu211Ter
XM_011532943.1:c.877G>T XP_011531245.1:p.Glu293Ter
XM_011532944.1:c.325G>T XP_011531246.1:p.Glu109Ter
XM_011532944.2:c.325G>T XP_011531246.1:p.Glu109Ter
XM_011532945.1:c.280G>T XP_011531247.1:p.Glu94Ter
XM_011532945.2:c.280G>T XP_011531247.1:p.Glu94Ter
XM_017004414.2:c.661G>T XP_016859903.1:p.Glu221Ter
XM_017004416.1:c.265G>T XP_016859905.1:p.Glu89Ter
XR_001738802.2:n.690G>T
XR_001738803.2:n.675G>T
XR_002959309.1:n.818G>T
XR_939692.1:n.743G>T
XR_939692.2:n.735G>T