Canonical Allele Identifier: CA346931269

Linked Data

dbSNP Id: rs1558727681
gnomAD v4: 2-58160157-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160157C>T , CM000664.2:g.58160157C>T GRCh38
NC_000002.11:g.58387292C>T , CM000664.1:g.58387292C>T GRCh37
NC_000002.10:g.58240796C>T NCBI36
NG_007418.1:g.86223G>A , LRG_501:g.86223G>A
NG_029717.2:g.257417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1058G>A (FANCL) ENSP00000385021.3:p.Ser353Asn
ENST00000403295.8:c.959G>A (FANCL) ENSP00000386097.3:p.Ser320Asn
ENST00000403676.6:c.*606G>A (FANCL) ENSP00000384046.2:n.*606G>A
ENST00000417361.2:c.*621G>A (FANCL) ENSP00000389448.2:n.*621G>A
ENST00000427708.7:c.1088G>A (FANCL) ENSP00000400969.3:p.Ser363Asn
ENST00000446381.6:c.599G>A (FANCL) ENSP00000390991.2:p.Ser200Asn
ENST00000449070.6:c.866G>A (FANCL) ENSP00000401280.2:p.Ser289Asn
ENST00000470506.2:n.1557G>A (FANCL)
ENST00000696305.1:c.986G>A (FANCL) ENSP00000512543.1:p.Ser329Asn
ENST00000696306.1:c.*933G>A (FANCL) ENSP00000512544.1:n.*933G>A
ENST00000696307.1:c.1028G>A (FANCL) ENSP00000512545.1:p.Ser343Asn
ENST00000696314.1:c.*96G>A (FANCL) ENSP00000512552.1:n.*96G>A
ENST00000696315.1:c.*606G>A (FANCL) ENSP00000512553.1:n.*606G>A
ENST00000696316.1:c.926G>A (FANCL) ENSP00000512554.1:p.Ser309Asn
ENST00000696317.1:c.*16G>A (FANCL) ENSP00000512555.1:n.*16G>A
ENST00000696318.1:c.*96G>A (FANCL) ENSP00000512556.1:n.*96G>A
ENST00000696319.1:c.1001G>A (FANCL) ENSP00000512557.1:p.Ser334Asn
ENST00000696320.1:n.2722G>A (FANCL)
ENST00000696324.1:c.*493G>A (FANCL) ENSP00000512561.1:n.*493G>A
ENST00000696325.1:n.4126G>A (FANCL)
ENST00000696326.1:c.1103G>A (FANCL) ENSP00000512562.1:p.Ser368Asn
ENST00000696338.1:n.1157G>A (FANCL)
ENST00000696339.1:n.2615G>A (FANCL)
ENST00000696340.1:n.3269G>A (FANCL)
ENST00000696341.1:n.1551G>A (FANCL)
ENST00000696342.1:c.*2273G>A (FANCL) ENSP00000512569.1:n.*2273G>A
ENST00000696343.1:n.2902G>A (FANCL)
ENST00000696344.1:c.*757G>A (FANCL) ENSP00000512570.1:n.*757G>A
ENST00000696358.1:n.3716G>A (FANCL)
ENST00000696359.1:n.3393G>A (FANCL)
ENST00000696360.1:n.1828G>A (FANCL)
ENST00000696361.1:c.*1046G>A (FANCL) ENSP00000512579.1:n.*1046G>A
ENST00000696362.1:c.*493G>A (FANCL) ENSP00000512580.1:n.*493G>A
ENST00000696363.1:n.2820G>A (FANCL)
ENST00000696364.1:n.1436G>A (FANCL)
ENST00000696371.1:c.1034G>A (FANCL) ENSP00000512586.1:p.Ser345Asn
ENST00000696372.1:n.2132G>A (FANCL)
ENST00000696373.1:c.*2273G>A (FANCL) ENSP00000512587.1:n.*2273G>A
ENST00000696374.1:c.*411G>A (FANCL) ENSP00000512588.1:n.*411G>A
ENST00000696375.1:n.7976G>A (FANCL)
ENST00000696376.1:n.6829G>A (FANCL)
ENST00000696378.1:c.*1061G>A (FANCL) ENSP00000512589.1:n.*1061G>A
ENST00000696394.1:n.4545G>A (FANCL)
ENST00000696395.1:n.4484G>A (FANCL)
ENST00000696396.1:n.2197G>A (FANCL)
ENST00000696397.1:n.3168G>A (FANCL)
ENST00000696398.1:c.*190G>A (FANCL) ENSP00000512604.1:n.*190G>A
ENST00000696399.1:n.2317G>A (FANCL)
ENST00000696400.1:c.*807G>A (FANCL) ENSP00000512605.1:n.*807G>A
ENST00000696409.1:c.*560G>A (FANCL) ENSP00000512610.1:n.*560G>A
ENST00000696410.1:c.*524G>A (FANCL) ENSP00000512611.1:n.*524G>A
ENST00000696411.1:n.748G>A (FANCL)
ENST00000696412.1:n.1542G>A (FANCL)
ENST00000696413.1:n.1045G>A (FANCL)
ENST00000696414.1:n.2089G>A (FANCL)
ENST00000696415.1:c.*16G>A (FANCL) ENSP00000512612.1:n.*16G>A
ENST00000696416.1:n.1051G>A (FANCL)
ENST00000696432.1:n.3502G>A (FANCL)
ENST00000696433.1:c.*96G>A (FANCL) ENSP00000512627.1:n.*96G>A
ENST00000696434.1:c.881G>A (FANCL) ENSP00000512628.1:p.Ser294Asn
ENST00000696435.1:c.*190G>A (FANCL) ENSP00000512629.1:n.*190G>A
ENST00000696436.1:n.997G>A (FANCL)
ENST00000696437.1:n.1460G>A (FANCL)
ENST00000696438.1:c.*876G>A (FANCL) ENSP00000512630.1:n.*876G>A
ENST00000696439.1:n.3092G>A (FANCL)
ENST00000696440.1:n.2079G>A (FANCL)
ENST00000696454.1:c.*394G>A (FANCL) ENSP00000512641.1:n.*394G>A
ENST00000696455.1:c.*96G>A (FANCL) ENSP00000512642.1:n.*96G>A
ENST00000696456.1:n.553G>A (FANCL)
ENST00000696457.1:c.*1814G>A (FANCL) ENSP00000512643.1:n.*1814G>A
ENST00000696458.1:c.*16G>A (FANCL) ENSP00000512644.1:n.*16G>A
ENST00000696459.1:c.*478G>A (FANCL) ENSP00000512645.1:n.*478G>A
ENST00000696460.1:n.1540G>A (FANCL)
ENST00000696467.1:c.*539G>A (FANCL) ENSP00000512648.1:n.*539G>A
ENST00000696468.1:c.*535G>A (FANCL) ENSP00000512649.1:n.*535G>A
ENST00000696469.1:c.*190G>A (FANCL) ENSP00000512650.1:n.*190G>A
ENST00000696470.1:n.3211G>A (FANCL)
ENST00000696471.1:n.713G>A (FANCL)
ENST00000696472.1:c.*96G>A (FANCL) ENSP00000512651.1:n.*96G>A
ENST00000696473.1:c.*726G>A (FANCL) ENSP00000512652.1:n.*726G>A
ENST00000696474.1:n.919G>A (FANCL)
ENST00000696475.1:n.2551G>A (FANCL)
ENST00000696492.1:c.*708G>A (FANCL) ENSP00000512662.1:n.*708G>A
ENST00000696493.1:c.*891G>A (FANCL) ENSP00000512663.1:n.*891G>A
ENST00000696494.1:n.1075G>A (FANCL)
ENST00000696495.1:c.*789G>A (FANCL) ENSP00000512664.1:n.*789G>A
ENST00000696496.1:n.1582G>A (FANCL)
ENST00000696497.1:n.4340G>A (FANCL)
ENST00000696498.1:n.1802G>A (FANCL)
ENST00000696499.1:c.*480G>A (FANCL) ENSP00000512665.1:n.*480G>A
ENST00000696508.1:c.*598G>A (FANCL) ENSP00000512674.1:n.*598G>A
ENST00000696509.1:c.*920G>A (FANCL) ENSP00000512675.1:n.*920G>A
ENST00000696510.1:c.515G>A (FANCL) ENSP00000512676.1:p.Ser172Asn
ENST00000696527.1:c.*96G>A (FANCL) ENSP00000512690.1:n.*96G>A
ENST00000696528.1:c.*96G>A (FANCL) ENSP00000512691.1:n.*96G>A
ENST00000696529.1:n.906G>A (FANCL)
ENST00000696530.1:c.839G>A (FANCL) ENSP00000512692.1:p.Ser280Asn
ENST00000696531.1:c.*575G>A (FANCL) ENSP00000512693.1:n.*575G>A
ENST00000696532.1:n.2190G>A (FANCL)
ENST00000696542.1:n.981G>A (FANCL)
ENST00000696543.1:c.*96G>A (FANCL) ENSP00000512703.1:n.*96G>A
ENST00000696544.1:c.*96G>A (FANCL) ENSP00000512704.1:n.*96G>A
ENST00000696545.1:c.*711G>A (FANCL) ENSP00000512705.1:n.*711G>A
ENST00000696546.1:c.*822G>A (FANCL) ENSP00000512706.1:n.*822G>A
ENST00000696547.1:c.1031G>A (FANCL) ENSP00000512707.1:p.Ser344Asn
ENST00000696548.1:c.*1247G>A (FANCL) ENSP00000512708.1:n.*1247G>A
ENST00000696564.1:c.*96G>A (FANCL) ENSP00000512722.1:n.*96G>A
ENST00000696565.1:c.*96G>A (FANCL) ENSP00000512723.1:n.*96G>A
ENST00000696566.1:n.3631G>A (FANCL)
ENST00000696567.1:c.938G>A (FANCL) ENSP00000512724.1:p.Ser313Asn
ENST00000696568.1:n.469G>A (FANCL)
ENST00000696569.1:n.1152G>A (FANCL)
ENST00000696570.1:c.*365G>A (FANCL) ENSP00000512725.1:n.*365G>A
ENST00000696619.1:n.2599G>A (FANCL)
ENST00000696620.1:c.635G>A (FANCL) ENSP00000512759.1:p.Ser212Asn
ENST00000696621.1:c.*190G>A (FANCL) ENSP00000512760.1:n.*190G>A
ENST00000696622.1:n.2774G>A (FANCL)
ENST00000696623.1:n.1009G>A (FANCL)
ENST00000696624.1:c.974G>A (FANCL) ENSP00000512761.1:p.Ser325Asn
ENST00000696625.1:c.*493G>A (FANCL) ENSP00000512762.1:n.*493G>A
ENST00000696634.1:c.756G>A (FANCL) ENSP00000512770.1:n.756G>A
ENST00000696635.1:c.1019G>A (FANCL) ENSP00000512771.1:p.Ser340Asn
ENST00000696636.1:n.3495G>A (FANCL)
ENST00000696637.1:n.8116G>A (FANCL)
ENST00000696638.1:n.1058G>A (FANCL)
ENST00000696639.1:n.3121G>A (FANCL)
ENST00000233741.9:c.1043G>A (FANCL) MANE Select ENSP00000233741.5:p.Ser348Asn
ENST00000233741.8:c.1043G>A (FANCL) ENSP00000233741.4:p.Ser348Asn
ENST00000402135.7:c.1058G>A (FANCL) ENSP00000385021.3:p.Ser353Asn
ENST00000403295.7:c.959G>A (FANCL) ENSP00000386097.3:p.Ser320Asn
ENST00000403676.5:c.692G>A (FANCL) ENSP00000384046.1:p.Ser231Asn
ENST00000449070.5:c.866G>A (FANCL) ENSP00000401280.1:p.Ser289Asn
NM_001114636.1:c.1058G>A , LRG_501t1:c.1058G>A (FANCL) NP_001108108.1:p.Ser353Asn
NM_018062.3:c.1043G>A , LRG_501t2:c.1043G>A (FANCL) NP_060532.2:p.Ser348Asn
XM_005264395.2:c.1043G>A (FANCL) XP_005264452.1:p.Ser348Asn
XM_005264397.3:c.692G>A (FANCL) XP_005264454.1:p.Ser231Asn
XM_011532939.1:c.1103G>A (FANCL) XP_011531241.1:p.Ser368Asn
XM_011532940.1:c.1088G>A (FANCL) XP_011531242.1:p.Ser363Asn
XM_011532941.1:c.1103G>A (FANCL) XP_011531243.1:p.Ser368Asn
XM_011532942.1:c.1058G>A (FANCL) XP_011531244.1:p.Ser353Asn
XM_011532943.1:c.1304G>A (FANCL) XP_011531245.1:p.Ser435Asn
XM_011532944.1:c.752G>A (FANCL) XP_011531246.1:p.Ser251Asn
XM_011532945.1:c.707G>A (FANCL) XP_011531247.1:p.Ser236Asn
XR_939692.1:n.1042G>A (FANCL)
NR_156742.1:n.832G>A (FANCL)
XM_005264395.4:c.1043G>A (FANCL) XP_005264452.1:p.Ser348Asn
XM_005264540.4:c.*464C>T (VRK2) XP_005264597.1:n.*464C>T
XM_006712090.4:c.*841C>T (VRK2) XP_006712153.1:n.*841C>T
XM_006712092.4:c.*464C>T (VRK2) XP_006712155.1:n.*464C>T
XM_006712093.4:c.*464C>T (VRK2) XP_006712156.1:n.*464C>T
XM_011532939.3:c.1103G>A (FANCL) XP_011531241.1:p.Ser368Asn
XM_011532940.3:c.1088G>A (FANCL) XP_011531242.1:p.Ser363Asn
XM_011532941.2:c.1103G>A (FANCL) XP_011531243.1:p.Ser368Asn
XM_011532942.3:c.1058G>A (FANCL) XP_011531244.1:p.Ser353Asn
XM_011532944.2:c.752G>A (FANCL) XP_011531246.1:p.Ser251Asn
XM_011532945.2:c.707G>A (FANCL) XP_011531247.1:p.Ser236Asn
XM_011533092.3:c.*464C>T (VRK2) XP_011531394.1:n.*464C>T
XM_017004414.2:c.1088G>A (FANCL) XP_016859903.1:p.Ser363Asn
XM_017004416.1:c.692G>A (FANCL) XP_016859905.1:p.Ser231Asn
XM_017004858.2:c.*841C>T (VRK2) XP_016860347.1:n.*841C>T
XM_017004859.2:c.*464C>T (VRK2) XP_016860348.1:n.*464C>T
XM_017004860.2:c.*464C>T (VRK2) XP_016860349.1:n.*464C>T
XM_017004861.2:c.*464C>T (VRK2) XP_016860350.1:n.*464C>T
XM_017004862.2:c.*464C>T (VRK2) XP_016860351.1:n.*464C>T
XM_017004863.2:c.*464C>T (VRK2) XP_016860352.1:n.*464C>T
XM_017004864.2:c.*841C>T (VRK2) XP_016860353.1:n.*841C>T
XM_017004865.1:c.*849C>T (VRK2) XP_016860354.1:n.*849C>T
XM_017004866.1:c.*849C>T (VRK2) XP_016860355.1:n.*849C>T
XR_001738802.2:n.989G>A (FANCL)
XR_001738803.2:n.974G>A (FANCL)
XR_002959309.1:n.1685G>A (FANCL)
XR_939692.2:n.1034G>A (FANCL)
NM_001374615.1:c.1088G>A (FANCL) NP_001361544.1:p.Ser363Asn
NM_018062.4:c.1043G>A (FANCL) MANE Select NP_060532.2:p.Ser348Asn
NR_164659.1:n.924G>A (FANCL)