Canonical Allele Identifier: CA1670541

Gene: FANCL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58165804A>G , CM000664.2:g.58165804A>G	GRCh38
NC_000002.11:g.58392939A>G , CM000664.1:g.58392939A>G	GRCh37
NC_000002.10:g.58246443A>G	NCBI36
NG_007418.1:g.80576T>C , LRG_501:g.80576T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.626T>C	ENSP00000385021.3:p.Met209Thr
ENST00000403295.8:c.611T>C	ENSP00000386097.3:p.Met204Thr
ENST00000403676.6:c.*174T>C	ENSP00000384046.2:n.*174T>C
ENST00000417361.2:c.*189T>C	ENSP00000389448.2:n.*189T>C
ENST00000427708.7:c.656T>C	ENSP00000400969.3:p.Met219Thr
ENST00000446381.6:c.167T>C	ENSP00000390991.2:p.Met56Thr
ENST00000449070.6:c.434T>C	ENSP00000401280.2:p.Met145Thr
ENST00000470506.2:n.685T>C
ENST00000696305.1:c.554T>C	ENSP00000512543.1:p.Met185Thr
ENST00000696306.1:c.*61T>C	ENSP00000512544.1:n.*61T>C
ENST00000696307.1:c.611T>C	ENSP00000512545.1:p.Met204Thr
ENST00000696314.1:c.611T>C	ENSP00000512552.1:p.Met204Thr
ENST00000696315.1:c.*174T>C	ENSP00000512553.1:n.*174T>C
ENST00000696316.1:c.611T>C	ENSP00000512554.1:p.Met204Thr
ENST00000696317.1:c.611T>C	ENSP00000512555.1:p.Met204Thr
ENST00000696318.1:c.167T>C	ENSP00000512556.1:p.Met56Thr
ENST00000696319.1:c.569T>C	ENSP00000512557.1:p.Met190Thr
ENST00000696320.1:n.623T>C
ENST00000696324.1:c.*189T>C	ENSP00000512561.1:n.*189T>C
ENST00000696325.1:n.3694T>C
ENST00000696326.1:c.671T>C	ENSP00000512562.1:p.Met224Thr
ENST00000696338.1:n.644T>C
ENST00000696339.1:n.105T>C
ENST00000696340.1:n.631T>C
ENST00000696341.1:n.679T>C
ENST00000696342.1:c.*174T>C	ENSP00000512569.1:n.*174T>C
ENST00000696343.1:n.2470T>C
ENST00000696344.1:c.*325T>C	ENSP00000512570.1:n.*325T>C
ENST00000696345.1:n.638T>C
ENST00000696346.1:n.280T>C
ENST00000696358.1:n.638T>C
ENST00000696360.1:n.1315T>C
ENST00000696361.1:c.*174T>C	ENSP00000512579.1:n.*174T>C
ENST00000696362.1:c.*61T>C	ENSP00000512580.1:n.*61T>C
ENST00000696363.1:n.2388T>C
ENST00000696364.1:n.564T>C
ENST00000696371.1:c.602T>C	ENSP00000512586.1:p.Met201Thr
ENST00000696373.1:c.*174T>C	ENSP00000512587.1:n.*174T>C
ENST00000696374.1:c.*61T>C	ENSP00000512588.1:n.*61T>C
ENST00000696375.1:n.7104T>C
ENST00000696376.1:n.4730T>C
ENST00000696377.1:n.498T>C
ENST00000696378.1:c.*189T>C	ENSP00000512589.1:n.*189T>C
ENST00000696379.1:c.*174T>C	ENSP00000512590.1:n.*174T>C
ENST00000696380.1:n.391T>C
ENST00000696394.1:n.3673T>C
ENST00000696395.1:n.179T>C
ENST00000696396.1:n.1325T>C
ENST00000696397.1:n.2296T>C
ENST00000696398.1:c.611T>C	ENSP00000512604.1:p.Met204Thr
ENST00000696399.1:n.218T>C
ENST00000696400.1:c.*375T>C	ENSP00000512605.1:n.*375T>C
ENST00000696401.1:n.593T>C
ENST00000696409.1:c.*174T>C	ENSP00000512610.1:n.*174T>C
ENST00000696410.1:c.*174T>C	ENSP00000512611.1:n.*174T>C
ENST00000696411.1:n.235T>C
ENST00000696412.1:n.1110T>C
ENST00000696413.1:n.741T>C
ENST00000696414.1:n.1217T>C
ENST00000696415.1:c.626T>C	ENSP00000512612.1:p.Met209Thr
ENST00000696416.1:n.179T>C
ENST00000696417.1:c.*341T>C	ENSP00000512613.1:n.*341T>C
ENST00000696432.1:n.3070T>C
ENST00000696433.1:c.167T>C	ENSP00000512627.1:p.Met56Thr
ENST00000696434.1:c.449T>C	ENSP00000512628.1:p.Met150Thr
ENST00000696435.1:c.167T>C	ENSP00000512629.1:p.Met56Thr
ENST00000696436.1:n.647T>C
ENST00000696437.1:n.1028T>C
ENST00000696438.1:c.*444T>C	ENSP00000512630.1:n.*444T>C
ENST00000696439.1:n.2660T>C
ENST00000696440.1:n.1775T>C
ENST00000696454.1:c.*174T>C	ENSP00000512641.1:n.*174T>C
ENST00000696455.1:c.449T>C	ENSP00000512642.1:p.Met150Thr
ENST00000696457.1:c.167T>C	ENSP00000512643.1:p.Met56Thr
ENST00000696458.1:c.554T>C	ENSP00000512644.1:p.Met185Thr
ENST00000696459.1:c.*174T>C	ENSP00000512645.1:n.*174T>C
ENST00000696460.1:n.668T>C
ENST00000696467.1:c.*189T>C	ENSP00000512648.1:n.*189T>C
ENST00000696468.1:c.*103T>C	ENSP00000512649.1:n.*103T>C
ENST00000696469.1:c.626T>C	ENSP00000512650.1:p.Met209Thr
ENST00000696470.1:n.133T>C
ENST00000696471.1:n.281T>C
ENST00000696472.1:c.626T>C	ENSP00000512651.1:p.Met209Thr
ENST00000696473.1:c.*294T>C	ENSP00000512652.1:n.*294T>C
ENST00000696474.1:n.533T>C
ENST00000696475.1:n.2247T>C
ENST00000696492.1:c.*276T>C	ENSP00000512662.1:n.*276T>C
ENST00000696493.1:c.*459T>C	ENSP00000512663.1:n.*459T>C
ENST00000696494.1:n.771T>C
ENST00000696495.1:c.*357T>C	ENSP00000512664.1:n.*357T>C
ENST00000696496.1:n.710T>C
ENST00000696497.1:n.3908T>C
ENST00000696498.1:n.1498T>C
ENST00000696499.1:c.*48T>C	ENSP00000512665.1:n.*48T>C
ENST00000696508.1:c.*174T>C	ENSP00000512674.1:n.*174T>C
ENST00000696509.1:c.*48T>C	ENSP00000512675.1:n.*48T>C
ENST00000696510.1:c.167T>C	ENSP00000512676.1:p.Met56Thr
ENST00000696527.1:c.611T>C	ENSP00000512690.1:p.Met204Thr
ENST00000696528.1:c.554T>C	ENSP00000512691.1:p.Met185Thr
ENST00000696529.1:n.474T>C
ENST00000696530.1:c.407T>C	ENSP00000512692.1:p.Met136Thr
ENST00000696531.1:c.*189T>C	ENSP00000512693.1:n.*189T>C
ENST00000696532.1:n.1758T>C
ENST00000696542.1:n.109T>C
ENST00000696543.1:c.434T>C	ENSP00000512703.1:p.Met145Thr
ENST00000696544.1:c.491T>C	ENSP00000512704.1:p.Met164Thr
ENST00000696545.1:c.*325T>C	ENSP00000512705.1:n.*325T>C
ENST00000696546.1:c.*390T>C	ENSP00000512706.1:n.*390T>C
ENST00000696547.1:c.599T>C	ENSP00000512707.1:p.Met200Thr
ENST00000696548.1:c.*375T>C	ENSP00000512708.1:n.*375T>C
ENST00000696564.1:c.656T>C	ENSP00000512722.1:p.Met219Thr
ENST00000696565.1:c.671T>C	ENSP00000512723.1:p.Met224Thr
ENST00000696566.1:n.553T>C
ENST00000696567.1:c.611T>C	ENSP00000512724.1:p.Met204Thr
ENST00000696569.1:n.639T>C
ENST00000696570.1:c.*61T>C	ENSP00000512725.1:n.*61T>C
ENST00000696594.1:c.611T>C	ENSP00000512739.1:p.Met204Thr
ENST00000696595.1:c.554T>C	ENSP00000512740.1:p.Met185Thr
ENST00000696619.1:n.1727T>C
ENST00000696620.1:c.287T>C	ENSP00000512759.1:p.Met96Thr
ENST00000696621.1:c.611T>C	ENSP00000512760.1:p.Met204Thr
ENST00000696622.1:n.675T>C
ENST00000696623.1:n.496T>C
ENST00000696624.1:c.626T>C	ENSP00000512761.1:p.Met209Thr
ENST00000696625.1:c.*61T>C	ENSP00000512762.1:n.*61T>C
ENST00000696634.1:c.348T>C	ENSP00000512770.1:n.348T>C
ENST00000696635.1:c.611T>C	ENSP00000512771.1:p.Met204Thr
ENST00000696636.1:n.1396T>C
ENST00000696637.1:n.5038T>C
ENST00000696638.1:n.626T>C
ENST00000696639.1:n.43T>C
ENST00000233741.9:c.611T>C MANE Select	ENSP00000233741.5:p.Met204Thr
ENST00000233741.8:c.611T>C	ENSP00000233741.4:p.Met204Thr
ENST00000402135.7:c.626T>C	ENSP00000385021.3:p.Met209Thr
ENST00000403295.7:c.611T>C	ENSP00000386097.3:p.Met204Thr
ENST00000403676.5:c.260T>C	ENSP00000384046.1:p.Met87Thr
ENST00000417361.1:c.275T>C	ENSP00000389448.1:p.Met92Thr
ENST00000427708.6:c.654T>C
ENST00000446381.5:c.167T>C	ENSP00000390991.1:p.Met56Thr
ENST00000449070.5:c.434T>C	ENSP00000401280.1:p.Met145Thr
NM_001114636.1:c.626T>C , LRG_501t1:c.626T>C	NP_001108108.1:p.Met209Thr
NM_018062.3:c.611T>C , LRG_501t2:c.611T>C	NP_060532.2:p.Met204Thr
XM_005264395.2:c.611T>C	XP_005264452.1:p.Met204Thr
XM_005264397.3:c.260T>C	XP_005264454.1:p.Met87Thr
XM_011532939.1:c.671T>C	XP_011531241.1:p.Met224Thr
XM_011532940.1:c.656T>C	XP_011531242.1:p.Met219Thr
XM_011532941.1:c.671T>C	XP_011531243.1:p.Met224Thr
XM_011532942.1:c.626T>C	XP_011531244.1:p.Met209Thr
XM_011532943.1:c.872T>C	XP_011531245.1:p.Met291Thr
XM_011532944.1:c.320T>C	XP_011531246.1:p.Met107Thr
XM_011532945.1:c.275T>C	XP_011531247.1:p.Met92Thr
XR_939692.1:n.738T>C
NR_156742.1:n.400T>C
XM_005264395.4:c.611T>C	XP_005264452.1:p.Met204Thr
XM_011532939.3:c.671T>C	XP_011531241.1:p.Met224Thr
XM_011532940.3:c.656T>C	XP_011531242.1:p.Met219Thr
XM_011532941.2:c.671T>C	XP_011531243.1:p.Met224Thr
XM_011532942.3:c.626T>C	XP_011531244.1:p.Met209Thr
XM_011532944.2:c.320T>C	XP_011531246.1:p.Met107Thr
XM_011532945.2:c.275T>C	XP_011531247.1:p.Met92Thr
XM_017004414.2:c.656T>C	XP_016859903.1:p.Met219Thr
XM_017004416.1:c.260T>C	XP_016859905.1:p.Met87Thr
XR_001738802.2:n.685T>C
XR_001738803.2:n.670T>C
XR_002959309.1:n.813T>C
XR_939692.2:n.730T>C
NM_001374615.1:c.656T>C	NP_001361544.1:p.Met219Thr
NM_018062.4:c.611T>C MANE Select	NP_060532.2:p.Met204Thr
NR_164659.1:n.620T>C