Canonical Allele Identifier: CA346930951

Linked Data

gnomAD v4: 2-58160119-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160119A>G , CM000664.2:g.58160119A>G GRCh38
NC_000002.11:g.58387254A>G , CM000664.1:g.58387254A>G GRCh37
NC_000002.10:g.58240758A>G NCBI36
NG_007418.1:g.86261T>C , LRG_501:g.86261T>C
NG_029717.2:g.257379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1096T>C (FANCL) ENSP00000385021.3:p.Tyr366His
ENST00000403295.8:c.997T>C (FANCL) ENSP00000386097.3:p.Tyr333His
ENST00000403676.6:c.*644T>C (FANCL) ENSP00000384046.2:n.*644T>C
ENST00000417361.2:c.*659T>C (FANCL) ENSP00000389448.2:n.*659T>C
ENST00000427708.7:c.1126T>C (FANCL) ENSP00000400969.3:p.Tyr376His
ENST00000446381.6:c.637T>C (FANCL) ENSP00000390991.2:p.Tyr213His
ENST00000449070.6:c.904T>C (FANCL) ENSP00000401280.2:p.Tyr302His
ENST00000470506.2:n.1595T>C (FANCL)
ENST00000696305.1:c.1024T>C (FANCL) ENSP00000512543.1:p.Tyr342His
ENST00000696306.1:c.*971T>C (FANCL) ENSP00000512544.1:n.*971T>C
ENST00000696307.1:c.1066T>C (FANCL) ENSP00000512545.1:p.Tyr356His
ENST00000696314.1:c.*134T>C (FANCL) ENSP00000512552.1:n.*134T>C
ENST00000696315.1:c.*644T>C (FANCL) ENSP00000512553.1:n.*644T>C
ENST00000696316.1:c.964T>C (FANCL) ENSP00000512554.1:p.Tyr322His
ENST00000696317.1:c.*54T>C (FANCL) ENSP00000512555.1:n.*54T>C
ENST00000696318.1:c.*134T>C (FANCL) ENSP00000512556.1:n.*134T>C
ENST00000696319.1:c.1039T>C (FANCL) ENSP00000512557.1:p.Tyr347His
ENST00000696320.1:n.2760T>C (FANCL)
ENST00000696324.1:c.*531T>C (FANCL) ENSP00000512561.1:n.*531T>C
ENST00000696325.1:n.4164T>C (FANCL)
ENST00000696326.1:c.1141T>C (FANCL) ENSP00000512562.1:p.Tyr381His
ENST00000696338.1:n.1195T>C (FANCL)
ENST00000696339.1:n.2653T>C (FANCL)
ENST00000696340.1:n.3307T>C (FANCL)
ENST00000696341.1:n.1589T>C (FANCL)
ENST00000696342.1:c.*2311T>C (FANCL) ENSP00000512569.1:n.*2311T>C
ENST00000696343.1:n.2940T>C (FANCL)
ENST00000696344.1:c.*795T>C (FANCL) ENSP00000512570.1:n.*795T>C
ENST00000696358.1:n.3754T>C (FANCL)
ENST00000696359.1:n.3431T>C (FANCL)
ENST00000696360.1:n.1866T>C (FANCL)
ENST00000696361.1:c.*1084T>C (FANCL) ENSP00000512579.1:n.*1084T>C
ENST00000696362.1:c.*531T>C (FANCL) ENSP00000512580.1:n.*531T>C
ENST00000696363.1:n.2858T>C (FANCL)
ENST00000696364.1:n.1474T>C (FANCL)
ENST00000696371.1:c.1072T>C (FANCL) ENSP00000512586.1:p.Tyr358His
ENST00000696372.1:n.2170T>C (FANCL)
ENST00000696373.1:c.*2311T>C (FANCL) ENSP00000512587.1:n.*2311T>C
ENST00000696374.1:c.*449T>C (FANCL) ENSP00000512588.1:n.*449T>C
ENST00000696375.1:n.8014T>C (FANCL)
ENST00000696376.1:n.6867T>C (FANCL)
ENST00000696378.1:c.*1099T>C (FANCL) ENSP00000512589.1:n.*1099T>C
ENST00000696394.1:n.4583T>C (FANCL)
ENST00000696395.1:n.4522T>C (FANCL)
ENST00000696396.1:n.2235T>C (FANCL)
ENST00000696397.1:n.3206T>C (FANCL)
ENST00000696398.1:c.*228T>C (FANCL) ENSP00000512604.1:n.*228T>C
ENST00000696399.1:n.2355T>C (FANCL)
ENST00000696400.1:c.*845T>C (FANCL) ENSP00000512605.1:n.*845T>C
ENST00000696409.1:c.*598T>C (FANCL) ENSP00000512610.1:n.*598T>C
ENST00000696410.1:c.*562T>C (FANCL) ENSP00000512611.1:n.*562T>C
ENST00000696411.1:n.786T>C (FANCL)
ENST00000696412.1:n.1580T>C (FANCL)
ENST00000696413.1:n.1083T>C (FANCL)
ENST00000696414.1:n.2127T>C (FANCL)
ENST00000696415.1:c.*54T>C (FANCL) ENSP00000512612.1:n.*54T>C
ENST00000696416.1:n.1089T>C (FANCL)
ENST00000696432.1:n.3540T>C (FANCL)
ENST00000696433.1:c.*134T>C (FANCL) ENSP00000512627.1:n.*134T>C
ENST00000696434.1:c.919T>C (FANCL) ENSP00000512628.1:p.Tyr307His
ENST00000696435.1:c.*228T>C (FANCL) ENSP00000512629.1:n.*228T>C
ENST00000696436.1:n.1035T>C (FANCL)
ENST00000696437.1:n.1498T>C (FANCL)
ENST00000696438.1:c.*914T>C (FANCL) ENSP00000512630.1:n.*914T>C
ENST00000696439.1:n.3130T>C (FANCL)
ENST00000696440.1:n.2117T>C (FANCL)
ENST00000696454.1:c.*432T>C (FANCL) ENSP00000512641.1:n.*432T>C
ENST00000696455.1:c.*134T>C (FANCL) ENSP00000512642.1:n.*134T>C
ENST00000696456.1:n.591T>C (FANCL)
ENST00000696457.1:c.*1852T>C (FANCL) ENSP00000512643.1:n.*1852T>C
ENST00000696458.1:c.*54T>C (FANCL) ENSP00000512644.1:n.*54T>C
ENST00000696459.1:c.*516T>C (FANCL) ENSP00000512645.1:n.*516T>C
ENST00000696460.1:n.1578T>C (FANCL)
ENST00000696467.1:c.*577T>C (FANCL) ENSP00000512648.1:n.*577T>C
ENST00000696468.1:c.*573T>C (FANCL) ENSP00000512649.1:n.*573T>C
ENST00000696469.1:c.*228T>C (FANCL) ENSP00000512650.1:n.*228T>C
ENST00000696470.1:n.3249T>C (FANCL)
ENST00000696471.1:n.751T>C (FANCL)
ENST00000696472.1:c.*134T>C (FANCL) ENSP00000512651.1:n.*134T>C
ENST00000696473.1:c.*764T>C (FANCL) ENSP00000512652.1:n.*764T>C
ENST00000696474.1:n.957T>C (FANCL)
ENST00000696475.1:n.2589T>C (FANCL)
ENST00000696492.1:c.*746T>C (FANCL) ENSP00000512662.1:n.*746T>C
ENST00000696493.1:c.*929T>C (FANCL) ENSP00000512663.1:n.*929T>C
ENST00000696494.1:n.1113T>C (FANCL)
ENST00000696495.1:c.*827T>C (FANCL) ENSP00000512664.1:n.*827T>C
ENST00000696496.1:n.1620T>C (FANCL)
ENST00000696497.1:n.4378T>C (FANCL)
ENST00000696498.1:n.1840T>C (FANCL)
ENST00000696499.1:c.*518T>C (FANCL) ENSP00000512665.1:n.*518T>C
ENST00000696508.1:c.*636T>C (FANCL) ENSP00000512674.1:n.*636T>C
ENST00000696509.1:c.*958T>C (FANCL) ENSP00000512675.1:n.*958T>C
ENST00000696510.1:c.553T>C (FANCL) ENSP00000512676.1:p.Tyr185His
ENST00000696527.1:c.*134T>C (FANCL) ENSP00000512690.1:n.*134T>C
ENST00000696528.1:c.*134T>C (FANCL) ENSP00000512691.1:n.*134T>C
ENST00000696529.1:n.944T>C (FANCL)
ENST00000696530.1:c.877T>C (FANCL) ENSP00000512692.1:p.Tyr293His
ENST00000696531.1:c.*613T>C (FANCL) ENSP00000512693.1:n.*613T>C
ENST00000696532.1:n.2228T>C (FANCL)
ENST00000696542.1:n.1019T>C (FANCL)
ENST00000696543.1:c.*134T>C (FANCL) ENSP00000512703.1:n.*134T>C
ENST00000696544.1:c.*134T>C (FANCL) ENSP00000512704.1:n.*134T>C
ENST00000696545.1:c.*749T>C (FANCL) ENSP00000512705.1:n.*749T>C
ENST00000696546.1:c.*860T>C (FANCL) ENSP00000512706.1:n.*860T>C
ENST00000696547.1:c.1069T>C (FANCL) ENSP00000512707.1:p.Tyr357His
ENST00000696548.1:c.*1285T>C (FANCL) ENSP00000512708.1:n.*1285T>C
ENST00000696564.1:c.*134T>C (FANCL) ENSP00000512722.1:n.*134T>C
ENST00000696565.1:c.*134T>C (FANCL) ENSP00000512723.1:n.*134T>C
ENST00000696566.1:n.3669T>C (FANCL)
ENST00000696567.1:c.976T>C (FANCL) ENSP00000512724.1:p.Tyr326His
ENST00000696568.1:n.507T>C (FANCL)
ENST00000696569.1:n.1190T>C (FANCL)
ENST00000696570.1:c.*403T>C (FANCL) ENSP00000512725.1:n.*403T>C
ENST00000696619.1:n.2637T>C (FANCL)
ENST00000696620.1:c.673T>C (FANCL) ENSP00000512759.1:p.Tyr225His
ENST00000696621.1:c.*228T>C (FANCL) ENSP00000512760.1:n.*228T>C
ENST00000696622.1:n.2812T>C (FANCL)
ENST00000696623.1:n.1047T>C (FANCL)
ENST00000696624.1:c.1012T>C (FANCL) ENSP00000512761.1:p.Tyr338His
ENST00000696625.1:c.*531T>C (FANCL) ENSP00000512762.1:n.*531T>C
ENST00000696634.1:c.794T>C (FANCL) ENSP00000512770.1:n.794T>C
ENST00000696635.1:c.1057T>C (FANCL) ENSP00000512771.1:p.Tyr353His
ENST00000696636.1:n.3533T>C (FANCL)
ENST00000696637.1:n.8154T>C (FANCL)
ENST00000696638.1:n.1096T>C (FANCL)
ENST00000696639.1:n.3159T>C (FANCL)
ENST00000233741.9:c.1081T>C (FANCL) MANE Select ENSP00000233741.5:p.Tyr361His
ENST00000233741.8:c.1081T>C (FANCL) ENSP00000233741.4:p.Tyr361His
ENST00000402135.7:c.1096T>C (FANCL) ENSP00000385021.3:p.Tyr366His
ENST00000403295.7:c.997T>C (FANCL) ENSP00000386097.3:p.Tyr333His
ENST00000403676.5:c.730T>C (FANCL) ENSP00000384046.1:p.Tyr244His
ENST00000449070.5:c.904T>C (FANCL)
NM_001114636.1:c.1096T>C , LRG_501t1:c.1096T>C (FANCL) NP_001108108.1:p.Tyr366His
NM_018062.3:c.1081T>C , LRG_501t2:c.1081T>C (FANCL) NP_060532.2:p.Tyr361His
XM_005264395.2:c.1081T>C (FANCL) XP_005264452.1:p.Tyr361His
XM_005264397.3:c.730T>C (FANCL) XP_005264454.1:p.Tyr244His
XM_011532939.1:c.1141T>C (FANCL) XP_011531241.1:p.Tyr381His
XM_011532940.1:c.1126T>C (FANCL) XP_011531242.1:p.Tyr376His
XM_011532941.1:c.1141T>C (FANCL) XP_011531243.1:p.Tyr381His
XM_011532942.1:c.1096T>C (FANCL) XP_011531244.1:p.Tyr366His
XM_011532943.1:c.1342T>C (FANCL) XP_011531245.1:p.Tyr448His
XM_011532944.1:c.790T>C (FANCL) XP_011531246.1:p.Tyr264His
XM_011532945.1:c.745T>C (FANCL) XP_011531247.1:p.Tyr249His
XR_939692.1:n.1080T>C (FANCL)
NR_156742.1:n.870T>C (FANCL)
XM_005264395.4:c.1081T>C (FANCL) XP_005264452.1:p.Tyr361His
XM_005264540.4:c.*426A>G (VRK2) XP_005264597.1:n.*426A>G
XM_006712090.4:c.*803A>G (VRK2) XP_006712153.1:n.*803A>G
XM_006712092.4:c.*426A>G (VRK2) XP_006712155.1:n.*426A>G
XM_006712093.4:c.*426A>G (VRK2) XP_006712156.1:n.*426A>G
XM_011532939.3:c.1141T>C (FANCL) XP_011531241.1:p.Tyr381His
XM_011532940.3:c.1126T>C (FANCL) XP_011531242.1:p.Tyr376His
XM_011532941.2:c.1141T>C (FANCL) XP_011531243.1:p.Tyr381His
XM_011532942.3:c.1096T>C (FANCL) XP_011531244.1:p.Tyr366His
XM_011532944.2:c.790T>C (FANCL) XP_011531246.1:p.Tyr264His
XM_011532945.2:c.745T>C (FANCL) XP_011531247.1:p.Tyr249His
XM_011533092.3:c.*426A>G (VRK2) XP_011531394.1:n.*426A>G
XM_017004414.2:c.1126T>C (FANCL) XP_016859903.1:p.Tyr376His
XM_017004416.1:c.730T>C (FANCL) XP_016859905.1:p.Tyr244His
XM_017004858.2:c.*803A>G (VRK2) XP_016860347.1:n.*803A>G
XM_017004859.2:c.*426A>G (VRK2) XP_016860348.1:n.*426A>G
XM_017004860.2:c.*426A>G (VRK2) XP_016860349.1:n.*426A>G
XM_017004861.2:c.*426A>G (VRK2) XP_016860350.1:n.*426A>G
XM_017004862.2:c.*426A>G (VRK2) XP_016860351.1:n.*426A>G
XM_017004863.2:c.*426A>G (VRK2) XP_016860352.1:n.*426A>G
XM_017004864.2:c.*803A>G (VRK2) XP_016860353.1:n.*803A>G
XM_017004865.1:c.*811A>G (VRK2) XP_016860354.1:n.*811A>G
XM_017004866.1:c.*811A>G (VRK2) XP_016860355.1:n.*811A>G
XR_001738802.2:n.1027T>C (FANCL)
XR_001738803.2:n.1012T>C (FANCL)
XR_002959309.1:n.1723T>C (FANCL)
XR_939692.2:n.1072T>C (FANCL)
NM_001374615.1:c.1126T>C (FANCL) NP_001361544.1:p.Tyr376His
NM_018062.4:c.1081T>C (FANCL) MANE Select NP_060532.2:p.Tyr361His
NR_164659.1:n.962T>C (FANCL)