Canonical Allele Identifier: CA1670314
Community Standard Title: NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160112C>T , CM000664.2:g.58160112C>T GRCh38
NC_000002.11:g.58387247C>T , CM000664.1:g.58387247C>T GRCh37
NC_000002.10:g.58240751C>T NCBI36
NG_007418.1:g.86268G>A , LRG_501:g.86268G>A
NG_029717.2:g.257372C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018062.4:c.1088G>A (FANCL) MANE Select NP_060532.2:p.Ser363Asn
ENST00000233741.9:c.1088G>A (FANCL) MANE Select ENSP00000233741.5:p.Ser363Asn
NM_001114636.1:c.1103G>A , LRG_501t1:c.1103G>A (FANCL) NP_001108108.1:p.Ser368Asn
NM_001374615.1:c.1133G>A (FANCL) NP_001361544.1:p.Ser378Asn
NM_018062.3:c.1088G>A , LRG_501t2:c.1088G>A (FANCL) NP_060532.2:p.Ser363Asn
NR_156742.1:n.877G>A (FANCL)
NR_164659.1:n.969G>A (FANCL)
ENST00000233741.8:c.1088G>A (FANCL) ENSP00000233741.4:p.Ser363Asn
ENST00000402135.7:c.1103G>A (FANCL) ENSP00000385021.3:p.Ser368Asn
ENST00000402135.8:c.1103G>A (FANCL) ENSP00000385021.3:p.Ser368Asn
ENST00000403295.7:c.1004G>A (FANCL) ENSP00000386097.3:p.Ser335Asn
ENST00000403295.8:c.1004G>A (FANCL) ENSP00000386097.3:p.Ser335Asn
ENST00000403676.5:c.737G>A (FANCL) ENSP00000384046.1:p.Ser246Asn
ENST00000403676.6:c.*651G>A (FANCL) ENSP00000384046.2:n.*651G>A
ENST00000417361.2:c.*666G>A (FANCL) ENSP00000389448.2:n.*666G>A
ENST00000427708.7:c.1133G>A (FANCL) ENSP00000400969.3:p.Ser378Asn
ENST00000446381.6:c.644G>A (FANCL) ENSP00000390991.2:p.Ser215Asn
ENST00000449070.6:c.911G>A (FANCL) ENSP00000401280.2:p.Ser304Asn
ENST00000470506.2:n.1602G>A (FANCL)
ENST00000696305.1:c.1031G>A (FANCL) ENSP00000512543.1:p.Ser344Asn
ENST00000696306.1:c.*978G>A (FANCL) ENSP00000512544.1:n.*978G>A
ENST00000696307.1:c.1073G>A (FANCL) ENSP00000512545.1:p.Ser358Asn
ENST00000696314.1:c.*141G>A (FANCL) ENSP00000512552.1:n.*141G>A
ENST00000696315.1:c.*651G>A (FANCL) ENSP00000512553.1:n.*651G>A
ENST00000696316.1:c.971G>A (FANCL) ENSP00000512554.1:p.Ser324Asn
ENST00000696317.1:c.*61G>A (FANCL) ENSP00000512555.1:n.*61G>A
ENST00000696318.1:c.*141G>A (FANCL) ENSP00000512556.1:n.*141G>A
ENST00000696319.1:c.1046G>A (FANCL) ENSP00000512557.1:p.Ser349Asn
ENST00000696320.1:n.2767G>A (FANCL)
ENST00000696324.1:c.*538G>A (FANCL) ENSP00000512561.1:n.*538G>A
ENST00000696325.1:n.4171G>A (FANCL)
ENST00000696326.1:c.1148G>A (FANCL) ENSP00000512562.1:p.Ser383Asn
ENST00000696338.1:n.1202G>A (FANCL)
ENST00000696339.1:n.2660G>A (FANCL)
ENST00000696340.1:n.3314G>A (FANCL)
ENST00000696341.1:n.1596G>A (FANCL)
ENST00000696342.1:c.*2318G>A (FANCL) ENSP00000512569.1:n.*2318G>A
ENST00000696343.1:n.2947G>A (FANCL)
ENST00000696344.1:c.*802G>A (FANCL) ENSP00000512570.1:n.*802G>A
ENST00000696358.1:n.3761G>A (FANCL)
ENST00000696359.1:n.3438G>A (FANCL)
ENST00000696360.1:n.1873G>A (FANCL)
ENST00000696361.1:c.*1091G>A (FANCL) ENSP00000512579.1:n.*1091G>A
ENST00000696362.1:c.*538G>A (FANCL) ENSP00000512580.1:n.*538G>A
ENST00000696363.1:n.2865G>A (FANCL)
ENST00000696364.1:n.1481G>A (FANCL)
ENST00000696371.1:c.1079G>A (FANCL) ENSP00000512586.1:p.Ser360Asn
ENST00000696372.1:n.2177G>A (FANCL)
ENST00000696373.1:c.*2318G>A (FANCL) ENSP00000512587.1:n.*2318G>A
ENST00000696374.1:c.*456G>A (FANCL) ENSP00000512588.1:n.*456G>A
ENST00000696375.1:n.8021G>A (FANCL)
ENST00000696376.1:n.6874G>A (FANCL)
ENST00000696378.1:c.*1106G>A (FANCL) ENSP00000512589.1:n.*1106G>A
ENST00000696394.1:n.4590G>A (FANCL)
ENST00000696395.1:n.4529G>A (FANCL)
ENST00000696396.1:n.2242G>A (FANCL)
ENST00000696397.1:n.3213G>A (FANCL)
ENST00000696398.1:c.*235G>A (FANCL) ENSP00000512604.1:n.*235G>A
ENST00000696399.1:n.2362G>A (FANCL)
ENST00000696400.1:c.*852G>A (FANCL) ENSP00000512605.1:n.*852G>A
ENST00000696409.1:c.*605G>A (FANCL) ENSP00000512610.1:n.*605G>A
ENST00000696410.1:c.*569G>A (FANCL) ENSP00000512611.1:n.*569G>A
ENST00000696411.1:n.793G>A (FANCL)
ENST00000696412.1:n.1587G>A (FANCL)
ENST00000696413.1:n.1090G>A (FANCL)
ENST00000696414.1:n.2134G>A (FANCL)
ENST00000696415.1:c.*61G>A (FANCL) ENSP00000512612.1:n.*61G>A
ENST00000696416.1:n.1096G>A (FANCL)
ENST00000696432.1:n.3547G>A (FANCL)
ENST00000696433.1:c.*141G>A (FANCL) ENSP00000512627.1:n.*141G>A
ENST00000696434.1:c.926G>A (FANCL) ENSP00000512628.1:p.Ser309Asn
ENST00000696435.1:c.*235G>A (FANCL) ENSP00000512629.1:n.*235G>A
ENST00000696436.1:n.1042G>A (FANCL)
ENST00000696437.1:n.1505G>A (FANCL)
ENST00000696438.1:c.*921G>A (FANCL) ENSP00000512630.1:n.*921G>A
ENST00000696439.1:n.3137G>A (FANCL)
ENST00000696440.1:n.2124G>A (FANCL)
ENST00000696454.1:c.*439G>A (FANCL) ENSP00000512641.1:n.*439G>A
ENST00000696455.1:c.*141G>A (FANCL) ENSP00000512642.1:n.*141G>A
ENST00000696456.1:n.598G>A (FANCL)
ENST00000696457.1:c.*1859G>A (FANCL) ENSP00000512643.1:n.*1859G>A
ENST00000696458.1:c.*61G>A (FANCL) ENSP00000512644.1:n.*61G>A
ENST00000696459.1:c.*523G>A (FANCL) ENSP00000512645.1:n.*523G>A
ENST00000696460.1:n.1585G>A (FANCL)
ENST00000696467.1:c.*584G>A (FANCL) ENSP00000512648.1:n.*584G>A
ENST00000696468.1:c.*580G>A (FANCL) ENSP00000512649.1:n.*580G>A
ENST00000696469.1:c.*235G>A (FANCL) ENSP00000512650.1:n.*235G>A
ENST00000696470.1:n.3256G>A (FANCL)
ENST00000696471.1:n.758G>A (FANCL)
ENST00000696472.1:c.*141G>A (FANCL) ENSP00000512651.1:n.*141G>A
ENST00000696473.1:c.*771G>A (FANCL) ENSP00000512652.1:n.*771G>A
ENST00000696474.1:n.964G>A (FANCL)
ENST00000696475.1:n.2596G>A (FANCL)
ENST00000696492.1:c.*753G>A (FANCL) ENSP00000512662.1:n.*753G>A
ENST00000696493.1:c.*936G>A (FANCL) ENSP00000512663.1:n.*936G>A
ENST00000696494.1:n.1120G>A (FANCL)
ENST00000696495.1:c.*834G>A (FANCL) ENSP00000512664.1:n.*834G>A
ENST00000696496.1:n.1627G>A (FANCL)
ENST00000696497.1:n.4385G>A (FANCL)
ENST00000696498.1:n.1847G>A (FANCL)
ENST00000696499.1:c.*525G>A (FANCL) ENSP00000512665.1:n.*525G>A
ENST00000696508.1:c.*643G>A (FANCL) ENSP00000512674.1:n.*643G>A
ENST00000696509.1:c.*965G>A (FANCL) ENSP00000512675.1:n.*965G>A
ENST00000696510.1:c.560G>A (FANCL) ENSP00000512676.1:p.Ser187Asn
ENST00000696527.1:c.*141G>A (FANCL) ENSP00000512690.1:n.*141G>A
ENST00000696528.1:c.*141G>A (FANCL) ENSP00000512691.1:n.*141G>A
ENST00000696529.1:n.951G>A (FANCL)
ENST00000696530.1:c.884G>A (FANCL) ENSP00000512692.1:p.Ser295Asn
ENST00000696531.1:c.*620G>A (FANCL) ENSP00000512693.1:n.*620G>A
ENST00000696532.1:n.2235G>A (FANCL)
ENST00000696542.1:n.1026G>A (FANCL)
ENST00000696543.1:c.*141G>A (FANCL) ENSP00000512703.1:n.*141G>A
ENST00000696544.1:c.*141G>A (FANCL) ENSP00000512704.1:n.*141G>A
ENST00000696545.1:c.*756G>A (FANCL) ENSP00000512705.1:n.*756G>A
ENST00000696546.1:c.*867G>A (FANCL) ENSP00000512706.1:n.*867G>A
ENST00000696547.1:c.1076G>A (FANCL) ENSP00000512707.1:p.Ser359Asn
ENST00000696548.1:c.*1292G>A (FANCL) ENSP00000512708.1:n.*1292G>A
ENST00000696564.1:c.*141G>A (FANCL) ENSP00000512722.1:n.*141G>A
ENST00000696565.1:c.*141G>A (FANCL) ENSP00000512723.1:n.*141G>A
ENST00000696566.1:n.3676G>A (FANCL)
ENST00000696567.1:c.983G>A (FANCL) ENSP00000512724.1:p.Ser328Asn
ENST00000696568.1:n.514G>A (FANCL)
ENST00000696569.1:n.1197G>A (FANCL)
ENST00000696570.1:c.*410G>A (FANCL) ENSP00000512725.1:n.*410G>A
ENST00000696619.1:n.2644G>A (FANCL)
ENST00000696620.1:c.680G>A (FANCL) ENSP00000512759.1:p.Ser227Asn
ENST00000696621.1:c.*235G>A (FANCL) ENSP00000512760.1:n.*235G>A
ENST00000696622.1:n.2819G>A (FANCL)
ENST00000696623.1:n.1054G>A (FANCL)
ENST00000696624.1:c.1019G>A (FANCL) ENSP00000512761.1:p.Ser340Asn
ENST00000696625.1:c.*538G>A (FANCL) ENSP00000512762.1:n.*538G>A
ENST00000696634.1:c.801G>A (FANCL) ENSP00000512770.1:n.801G>A
ENST00000696635.1:c.1064G>A (FANCL) ENSP00000512771.1:p.Ser355Asn
ENST00000696636.1:n.3540G>A (FANCL)
ENST00000696637.1:n.8161G>A (FANCL)
ENST00000696638.1:n.1103G>A (FANCL)
ENST00000696639.1:n.3166G>A (FANCL)
XM_005264395.2:c.1088G>A (FANCL) XP_005264452.1:p.Ser363Asn
XM_005264395.4:c.1088G>A (FANCL) XP_005264452.1:p.Ser363Asn
XM_005264397.3:c.737G>A (FANCL) XP_005264454.1:p.Ser246Asn
XM_005264540.4:c.*419C>T (VRK2) XP_005264597.1:n.*419C>T
XM_006712090.4:c.*796C>T (VRK2) XP_006712153.1:n.*796C>T
XM_006712092.4:c.*419C>T (VRK2) XP_006712155.1:n.*419C>T
XM_006712093.4:c.*419C>T (VRK2) XP_006712156.1:n.*419C>T
XM_011532939.1:c.1148G>A (FANCL) XP_011531241.1:p.Ser383Asn
XM_011532939.3:c.1148G>A (FANCL) XP_011531241.1:p.Ser383Asn
XM_011532940.1:c.1133G>A (FANCL) XP_011531242.1:p.Ser378Asn
XM_011532940.3:c.1133G>A (FANCL) XP_011531242.1:p.Ser378Asn
XM_011532941.1:c.1148G>A (FANCL) XP_011531243.1:p.Ser383Asn
XM_011532941.2:c.1148G>A (FANCL) XP_011531243.1:p.Ser383Asn
XM_011532942.1:c.1103G>A (FANCL) XP_011531244.1:p.Ser368Asn
XM_011532942.3:c.1103G>A (FANCL) XP_011531244.1:p.Ser368Asn
XM_011532943.1:c.1349G>A (FANCL) XP_011531245.1:p.Ser450Asn
XM_011532944.1:c.797G>A (FANCL) XP_011531246.1:p.Ser266Asn
XM_011532944.2:c.797G>A (FANCL) XP_011531246.1:p.Ser266Asn
XM_011532945.1:c.752G>A (FANCL) XP_011531247.1:p.Ser251Asn
XM_011532945.2:c.752G>A (FANCL) XP_011531247.1:p.Ser251Asn
XM_011533092.3:c.*419C>T (VRK2) XP_011531394.1:n.*419C>T
XM_017004414.2:c.1133G>A (FANCL) XP_016859903.1:p.Ser378Asn
XM_017004416.1:c.737G>A (FANCL) XP_016859905.1:p.Ser246Asn
XM_017004858.2:c.*796C>T (VRK2) XP_016860347.1:n.*796C>T
XM_017004859.2:c.*419C>T (VRK2) XP_016860348.1:n.*419C>T
XM_017004860.2:c.*419C>T (VRK2) XP_016860349.1:n.*419C>T
XM_017004861.2:c.*419C>T (VRK2) XP_016860350.1:n.*419C>T
XM_017004862.2:c.*419C>T (VRK2) XP_016860351.1:n.*419C>T
XM_017004863.2:c.*419C>T (VRK2) XP_016860352.1:n.*419C>T
XM_017004864.2:c.*796C>T (VRK2) XP_016860353.1:n.*796C>T
XM_017004865.1:c.*804C>T (VRK2) XP_016860354.1:n.*804C>T
XM_017004866.1:c.*804C>T (VRK2) XP_016860355.1:n.*804C>T
XR_001738802.2:n.1034G>A (FANCL)
XR_001738803.2:n.1019G>A (FANCL)
XR_002959309.1:n.1730G>A (FANCL)
XR_939692.1:n.1087G>A (FANCL)
XR_939692.2:n.1079G>A (FANCL)