Canonical Allele Identifier: CA349705

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160123A>G , CM000664.2:g.58160123A>G GRCh38
NC_000002.11:g.58387258A>G , CM000664.1:g.58387258A>G GRCh37
NC_000002.10:g.58240762A>G NCBI36
NG_007418.1:g.86257T>C , LRG_501:g.86257T>C
NG_029717.2:g.257383A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1092T>C (FANCL) ENSP00000385021.3:p.Cys364=
ENST00000403295.8:c.993T>C (FANCL) ENSP00000386097.3:p.Cys331=
ENST00000403676.6:c.*640T>C (FANCL) ENSP00000384046.2:n.*640T>C
ENST00000417361.2:c.*655T>C (FANCL) ENSP00000389448.2:n.*655T>C
ENST00000427708.7:c.1122T>C (FANCL) ENSP00000400969.3:p.Cys374=
ENST00000446381.6:c.633T>C (FANCL) ENSP00000390991.2:p.Cys211=
ENST00000449070.6:c.900T>C (FANCL) ENSP00000401280.2:p.Cys300=
ENST00000470506.2:n.1591T>C (FANCL)
ENST00000696305.1:c.1020T>C (FANCL) ENSP00000512543.1:p.Cys340=
ENST00000696306.1:c.*967T>C (FANCL) ENSP00000512544.1:n.*967T>C
ENST00000696307.1:c.1062T>C (FANCL) ENSP00000512545.1:p.Cys354=
ENST00000696314.1:c.*130T>C (FANCL) ENSP00000512552.1:n.*130T>C
ENST00000696315.1:c.*640T>C (FANCL) ENSP00000512553.1:n.*640T>C
ENST00000696316.1:c.960T>C (FANCL) ENSP00000512554.1:p.Cys320=
ENST00000696317.1:c.*50T>C (FANCL) ENSP00000512555.1:n.*50T>C
ENST00000696318.1:c.*130T>C (FANCL) ENSP00000512556.1:n.*130T>C
ENST00000696319.1:c.1035T>C (FANCL) ENSP00000512557.1:p.Cys345=
ENST00000696320.1:n.2756T>C (FANCL)
ENST00000696324.1:c.*527T>C (FANCL) ENSP00000512561.1:n.*527T>C
ENST00000696325.1:n.4160T>C (FANCL)
ENST00000696326.1:c.1137T>C (FANCL) ENSP00000512562.1:p.Cys379=
ENST00000696338.1:n.1191T>C (FANCL)
ENST00000696339.1:n.2649T>C (FANCL)
ENST00000696340.1:n.3303T>C (FANCL)
ENST00000696341.1:n.1585T>C (FANCL)
ENST00000696342.1:c.*2307T>C (FANCL) ENSP00000512569.1:n.*2307T>C
ENST00000696343.1:n.2936T>C (FANCL)
ENST00000696344.1:c.*791T>C (FANCL) ENSP00000512570.1:n.*791T>C
ENST00000696358.1:n.3750T>C (FANCL)
ENST00000696359.1:n.3427T>C (FANCL)
ENST00000696360.1:n.1862T>C (FANCL)
ENST00000696361.1:c.*1080T>C (FANCL) ENSP00000512579.1:n.*1080T>C
ENST00000696362.1:c.*527T>C (FANCL) ENSP00000512580.1:n.*527T>C
ENST00000696363.1:n.2854T>C (FANCL)
ENST00000696364.1:n.1470T>C (FANCL)
ENST00000696371.1:c.1068T>C (FANCL) ENSP00000512586.1:p.Cys356=
ENST00000696372.1:n.2166T>C (FANCL)
ENST00000696373.1:c.*2307T>C (FANCL) ENSP00000512587.1:n.*2307T>C
ENST00000696374.1:c.*445T>C (FANCL) ENSP00000512588.1:n.*445T>C
ENST00000696375.1:n.8010T>C (FANCL)
ENST00000696376.1:n.6863T>C (FANCL)
ENST00000696378.1:c.*1095T>C (FANCL) ENSP00000512589.1:n.*1095T>C
ENST00000696394.1:n.4579T>C (FANCL)
ENST00000696395.1:n.4518T>C (FANCL)
ENST00000696396.1:n.2231T>C (FANCL)
ENST00000696397.1:n.3202T>C (FANCL)
ENST00000696398.1:c.*224T>C (FANCL) ENSP00000512604.1:n.*224T>C
ENST00000696399.1:n.2351T>C (FANCL)
ENST00000696400.1:c.*841T>C (FANCL) ENSP00000512605.1:n.*841T>C
ENST00000696409.1:c.*594T>C (FANCL) ENSP00000512610.1:n.*594T>C
ENST00000696410.1:c.*558T>C (FANCL) ENSP00000512611.1:n.*558T>C
ENST00000696411.1:n.782T>C (FANCL)
ENST00000696412.1:n.1576T>C (FANCL)
ENST00000696413.1:n.1079T>C (FANCL)
ENST00000696414.1:n.2123T>C (FANCL)
ENST00000696415.1:c.*50T>C (FANCL) ENSP00000512612.1:n.*50T>C
ENST00000696416.1:n.1085T>C (FANCL)
ENST00000696432.1:n.3536T>C (FANCL)
ENST00000696433.1:c.*130T>C (FANCL) ENSP00000512627.1:n.*130T>C
ENST00000696434.1:c.915T>C (FANCL) ENSP00000512628.1:p.Cys305=
ENST00000696435.1:c.*224T>C (FANCL) ENSP00000512629.1:n.*224T>C
ENST00000696436.1:n.1031T>C (FANCL)
ENST00000696437.1:n.1494T>C (FANCL)
ENST00000696438.1:c.*910T>C (FANCL) ENSP00000512630.1:n.*910T>C
ENST00000696439.1:n.3126T>C (FANCL)
ENST00000696440.1:n.2113T>C (FANCL)
ENST00000696454.1:c.*428T>C (FANCL) ENSP00000512641.1:n.*428T>C
ENST00000696455.1:c.*130T>C (FANCL) ENSP00000512642.1:n.*130T>C
ENST00000696456.1:n.587T>C (FANCL)
ENST00000696457.1:c.*1848T>C (FANCL) ENSP00000512643.1:n.*1848T>C
ENST00000696458.1:c.*50T>C (FANCL) ENSP00000512644.1:n.*50T>C
ENST00000696459.1:c.*512T>C (FANCL) ENSP00000512645.1:n.*512T>C
ENST00000696460.1:n.1574T>C (FANCL)
ENST00000696467.1:c.*573T>C (FANCL) ENSP00000512648.1:n.*573T>C
ENST00000696468.1:c.*569T>C (FANCL) ENSP00000512649.1:n.*569T>C
ENST00000696469.1:c.*224T>C (FANCL) ENSP00000512650.1:n.*224T>C
ENST00000696470.1:n.3245T>C (FANCL)
ENST00000696471.1:n.747T>C (FANCL)
ENST00000696472.1:c.*130T>C (FANCL) ENSP00000512651.1:n.*130T>C
ENST00000696473.1:c.*760T>C (FANCL) ENSP00000512652.1:n.*760T>C
ENST00000696474.1:n.953T>C (FANCL)
ENST00000696475.1:n.2585T>C (FANCL)
ENST00000696492.1:c.*742T>C (FANCL) ENSP00000512662.1:n.*742T>C
ENST00000696493.1:c.*925T>C (FANCL) ENSP00000512663.1:n.*925T>C
ENST00000696494.1:n.1109T>C (FANCL)
ENST00000696495.1:c.*823T>C (FANCL) ENSP00000512664.1:n.*823T>C
ENST00000696496.1:n.1616T>C (FANCL)
ENST00000696497.1:n.4374T>C (FANCL)
ENST00000696498.1:n.1836T>C (FANCL)
ENST00000696499.1:c.*514T>C (FANCL) ENSP00000512665.1:n.*514T>C
ENST00000696508.1:c.*632T>C (FANCL) ENSP00000512674.1:n.*632T>C
ENST00000696509.1:c.*954T>C (FANCL) ENSP00000512675.1:n.*954T>C
ENST00000696510.1:c.549T>C (FANCL) ENSP00000512676.1:p.Cys183=
ENST00000696527.1:c.*130T>C (FANCL) ENSP00000512690.1:n.*130T>C
ENST00000696528.1:c.*130T>C (FANCL) ENSP00000512691.1:n.*130T>C
ENST00000696529.1:n.940T>C (FANCL)
ENST00000696530.1:c.873T>C (FANCL) ENSP00000512692.1:p.Cys291=
ENST00000696531.1:c.*609T>C (FANCL) ENSP00000512693.1:n.*609T>C
ENST00000696532.1:n.2224T>C (FANCL)
ENST00000696542.1:n.1015T>C (FANCL)
ENST00000696543.1:c.*130T>C (FANCL) ENSP00000512703.1:n.*130T>C
ENST00000696544.1:c.*130T>C (FANCL) ENSP00000512704.1:n.*130T>C
ENST00000696545.1:c.*745T>C (FANCL) ENSP00000512705.1:n.*745T>C
ENST00000696546.1:c.*856T>C (FANCL) ENSP00000512706.1:n.*856T>C
ENST00000696547.1:c.1065T>C (FANCL) ENSP00000512707.1:p.Cys355=
ENST00000696548.1:c.*1281T>C (FANCL) ENSP00000512708.1:n.*1281T>C
ENST00000696564.1:c.*130T>C (FANCL) ENSP00000512722.1:n.*130T>C
ENST00000696565.1:c.*130T>C (FANCL) ENSP00000512723.1:n.*130T>C
ENST00000696566.1:n.3665T>C (FANCL)
ENST00000696567.1:c.972T>C (FANCL) ENSP00000512724.1:p.Cys324=
ENST00000696568.1:n.503T>C (FANCL)
ENST00000696569.1:n.1186T>C (FANCL)
ENST00000696570.1:c.*399T>C (FANCL) ENSP00000512725.1:n.*399T>C
ENST00000696619.1:n.2633T>C (FANCL)
ENST00000696620.1:c.669T>C (FANCL) ENSP00000512759.1:p.Cys223=
ENST00000696621.1:c.*224T>C (FANCL) ENSP00000512760.1:n.*224T>C
ENST00000696622.1:n.2808T>C (FANCL)
ENST00000696623.1:n.1043T>C (FANCL)
ENST00000696624.1:c.1008T>C (FANCL) ENSP00000512761.1:p.Cys336=
ENST00000696625.1:c.*527T>C (FANCL) ENSP00000512762.1:n.*527T>C
ENST00000696634.1:c.790T>C (FANCL) ENSP00000512770.1:n.790T>C
ENST00000696635.1:c.1053T>C (FANCL) ENSP00000512771.1:p.Cys351=
ENST00000696636.1:n.3529T>C (FANCL)
ENST00000696637.1:n.8150T>C (FANCL)
ENST00000696638.1:n.1092T>C (FANCL)
ENST00000696639.1:n.3155T>C (FANCL)
ENST00000233741.9:c.1077T>C (FANCL) MANE Select ENSP00000233741.5:p.Cys359=
ENST00000233741.8:c.1077T>C (FANCL) ENSP00000233741.4:p.Cys359=
ENST00000402135.7:c.1092T>C (FANCL) ENSP00000385021.3:p.Cys364=
ENST00000403295.7:c.993T>C (FANCL) ENSP00000386097.3:p.Cys331=
ENST00000403676.5:c.726T>C (FANCL) ENSP00000384046.1:p.Cys242=
ENST00000449070.5:c.900T>C (FANCL) ENSP00000401280.1:p.Cys300=
NM_001114636.1:c.1092T>C , LRG_501t1:c.1092T>C (FANCL) NP_001108108.1:p.Cys364=
NM_018062.3:c.1077T>C , LRG_501t2:c.1077T>C (FANCL) NP_060532.2:p.Cys359=
XM_005264395.2:c.1077T>C (FANCL) XP_005264452.1:p.Cys359=
XM_005264397.3:c.726T>C (FANCL) XP_005264454.1:p.Cys242=
XM_011532939.1:c.1137T>C (FANCL) XP_011531241.1:p.Cys379=
XM_011532940.1:c.1122T>C (FANCL) XP_011531242.1:p.Cys374=
XM_011532941.1:c.1137T>C (FANCL) XP_011531243.1:p.Cys379=
XM_011532942.1:c.1092T>C (FANCL) XP_011531244.1:p.Cys364=
XM_011532943.1:c.1338T>C (FANCL) XP_011531245.1:p.Cys446=
XM_011532944.1:c.786T>C (FANCL) XP_011531246.1:p.Cys262=
XM_011532945.1:c.741T>C (FANCL) XP_011531247.1:p.Cys247=
XR_939692.1:n.1076T>C (FANCL)
NR_156742.1:n.866T>C (FANCL)
XM_005264395.4:c.1077T>C (FANCL) XP_005264452.1:p.Cys359=
XM_005264540.4:c.*430A>G (VRK2) XP_005264597.1:n.*430A>G
XM_006712090.4:c.*807A>G (VRK2) XP_006712153.1:n.*807A>G
XM_006712092.4:c.*430A>G (VRK2) XP_006712155.1:n.*430A>G
XM_006712093.4:c.*430A>G (VRK2) XP_006712156.1:n.*430A>G
XM_011532939.3:c.1137T>C (FANCL) XP_011531241.1:p.Cys379=
XM_011532940.3:c.1122T>C (FANCL) XP_011531242.1:p.Cys374=
XM_011532941.2:c.1137T>C (FANCL) XP_011531243.1:p.Cys379=
XM_011532942.3:c.1092T>C (FANCL) XP_011531244.1:p.Cys364=
XM_011532944.2:c.786T>C (FANCL) XP_011531246.1:p.Cys262=
XM_011532945.2:c.741T>C (FANCL) XP_011531247.1:p.Cys247=
XM_011533092.3:c.*430A>G (VRK2) XP_011531394.1:n.*430A>G
XM_017004414.2:c.1122T>C (FANCL) XP_016859903.1:p.Cys374=
XM_017004416.1:c.726T>C (FANCL) XP_016859905.1:p.Cys242=
XM_017004858.2:c.*807A>G (VRK2) XP_016860347.1:n.*807A>G
XM_017004859.2:c.*430A>G (VRK2) XP_016860348.1:n.*430A>G
XM_017004860.2:c.*430A>G (VRK2) XP_016860349.1:n.*430A>G
XM_017004861.2:c.*430A>G (VRK2) XP_016860350.1:n.*430A>G
XM_017004862.2:c.*430A>G (VRK2) XP_016860351.1:n.*430A>G
XM_017004863.2:c.*430A>G (VRK2) XP_016860352.1:n.*430A>G
XM_017004864.2:c.*807A>G (VRK2) XP_016860353.1:n.*807A>G
XM_017004865.1:c.*815A>G (VRK2) XP_016860354.1:n.*815A>G
XM_017004866.1:c.*815A>G (VRK2) XP_016860355.1:n.*815A>G
XR_001738802.2:n.1023T>C (FANCL)
XR_001738803.2:n.1008T>C (FANCL)
XR_002959309.1:n.1719T>C (FANCL)
XR_939692.2:n.1068T>C (FANCL)
NM_001374615.1:c.1122T>C (FANCL) NP_001361544.1:p.Cys374=
NM_018062.4:c.1077T>C (FANCL) MANE Select NP_060532.2:p.Cys359=
NR_164659.1:n.958T>C (FANCL)