Linked Data
ClinVar Variation Id:
241253
dbSNP Id:
rs140088149
ExAC:
2:58388714 A / T
gnomAD v2:
2-58388714-A-T
gnomAD v3:
2-58161579-A-T
gnomAD v4:
2-58161579-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58161579A>T , CM000664.2:g.58161579A>T | GRCh38 |
| NC_000002.11:g.58388714A>T , CM000664.1:g.58388714A>T | GRCh37 |
| NC_000002.10:g.58242218A>T | NCBI36 |
| NG_007418.1:g.84801T>A , LRG_501:g.84801T>A | |
| NG_029717.2:g.258839A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.978T>A (FANCL) | ENSP00000385021.3:p.Asp326Glu | |
| ENST00000403295.8:c.879T>A (FANCL) | ENSP00000386097.3:p.Asp293Glu | |
| ENST00000403676.6:c.*526T>A (FANCL) | ENSP00000384046.2:n.*526T>A | |
| ENST00000417361.2:c.*541T>A (FANCL) | ENSP00000389448.2:n.*541T>A | |
| ENST00000427708.7:c.1008T>A (FANCL) | ENSP00000400969.3:p.Asp336Glu | |
| ENST00000446381.6:c.519T>A (FANCL) | ENSP00000390991.2:p.Asp173Glu | |
| ENST00000449070.6:c.786T>A (FANCL) | ENSP00000401280.2:p.Asp262Glu | |
| ENST00000470506.2:n.1477T>A (FANCL) | ||
| ENST00000696305.1:c.906T>A (FANCL) | ENSP00000512543.1:p.Asp302Glu | |
| ENST00000696306.1:c.*853T>A (FANCL) | ENSP00000512544.1:n.*853T>A | |
| ENST00000696307.1:c.948T>A (FANCL) | ENSP00000512545.1:p.Asp316Glu | |
| ENST00000696314.1:c.*16T>A (FANCL) | ENSP00000512552.1:n.*16T>A | |
| ENST00000696315.1:c.*526T>A (FANCL) | ENSP00000512553.1:n.*526T>A | |
| ENST00000696316.1:c.903+1287T>A (FANCL) | ENSP00000512554.1:n.903+1287T>A | |
| ENST00000696317.1:c.881T>A (FANCL) | ENSP00000512555.1:p.Ile294Asn | |
| ENST00000696318.1:c.*16T>A (FANCL) | ENSP00000512556.1:n.*16T>A | |
| ENST00000696319.1:c.921T>A (FANCL) | ENSP00000512557.1:p.Asp307Glu | |
| ENST00000696320.1:n.2642T>A (FANCL) | ||
| ENST00000696324.1:c.*413T>A (FANCL) | ENSP00000512561.1:n.*413T>A | |
| ENST00000696325.1:n.4046T>A (FANCL) | ||
| ENST00000696326.1:c.1023T>A (FANCL) | ENSP00000512562.1:p.Asp341Glu | |
| ENST00000696338.1:n.1077T>A (FANCL) | ||
| ENST00000696339.1:n.2535T>A (FANCL) | ||
| ENST00000696340.1:n.3189T>A (FANCL) | ||
| ENST00000696341.1:n.1471T>A (FANCL) | ||
| ENST00000696342.1:c.*2193T>A (FANCL) | ENSP00000512569.1:n.*2193T>A | |
| ENST00000696343.1:n.2822T>A (FANCL) | ||
| ENST00000696344.1:c.*677T>A (FANCL) | ENSP00000512570.1:n.*677T>A | |
| ENST00000696358.1:n.3636T>A (FANCL) | ||
| ENST00000696359.1:n.3313T>A (FANCL) | ||
| ENST00000696360.1:n.1748T>A (FANCL) | ||
| ENST00000696361.1:c.*966T>A (FANCL) | ENSP00000512579.1:n.*966T>A | |
| ENST00000696362.1:c.*413T>A (FANCL) | ENSP00000512580.1:n.*413T>A | |
| ENST00000696363.1:n.2740T>A (FANCL) | ||
| ENST00000696364.1:n.1356T>A (FANCL) | ||
| ENST00000696371.1:c.954T>A (FANCL) | ENSP00000512586.1:p.Asp318Glu | |
| ENST00000696372.1:n.2052T>A (FANCL) | ||
| ENST00000696373.1:c.*2193T>A (FANCL) | ENSP00000512587.1:n.*2193T>A | |
| ENST00000696374.1:c.*331T>A (FANCL) | ENSP00000512588.1:n.*331T>A | |
| ENST00000696375.1:n.7896T>A (FANCL) | ||
| ENST00000696376.1:n.6749T>A (FANCL) | ||
| ENST00000696378.1:c.*981T>A (FANCL) | ENSP00000512589.1:n.*981T>A | |
| ENST00000696394.1:n.4465T>A (FANCL) | ||
| ENST00000696395.1:n.4404T>A (FANCL) | ||
| ENST00000696396.1:n.2117T>A (FANCL) | ||
| ENST00000696397.1:n.3088T>A (FANCL) | ||
| ENST00000696398.1:c.*110T>A (FANCL) | ENSP00000512604.1:n.*110T>A | |
| ENST00000696399.1:n.2237T>A (FANCL) | ||
| ENST00000696400.1:c.*727T>A (FANCL) | ENSP00000512605.1:n.*727T>A | |
| ENST00000696401.1:n.899T>A (FANCL) | ||
| ENST00000696409.1:c.*480T>A (FANCL) | ENSP00000512610.1:n.*480T>A | |
| ENST00000696410.1:c.*444T>A (FANCL) | ENSP00000512611.1:n.*444T>A | |
| ENST00000696411.1:n.668T>A (FANCL) | ||
| ENST00000696412.1:n.1462T>A (FANCL) | ||
| ENST00000696413.1:n.965T>A (FANCL) | ||
| ENST00000696414.1:n.2009T>A (FANCL) | ||
| ENST00000696415.1:c.896T>A (FANCL) | ENSP00000512612.1:p.Ile299Asn | |
| ENST00000696416.1:n.971T>A (FANCL) | ||
| ENST00000696432.1:n.3422T>A (FANCL) | ||
| ENST00000696433.1:c.*16T>A (FANCL) | ENSP00000512627.1:n.*16T>A | |
| ENST00000696434.1:c.801T>A (FANCL) | ENSP00000512628.1:p.Asp267Glu | |
| ENST00000696435.1:c.*110T>A (FANCL) | ENSP00000512629.1:n.*110T>A | |
| ENST00000696436.1:n.917T>A (FANCL) | ||
| ENST00000696437.1:n.1380T>A (FANCL) | ||
| ENST00000696438.1:c.*796T>A (FANCL) | ENSP00000512630.1:n.*796T>A | |
| ENST00000696439.1:n.3012T>A (FANCL) | ||
| ENST00000696440.1:n.1999T>A (FANCL) | ||
| ENST00000696454.1:c.*314T>A (FANCL) | ENSP00000512641.1:n.*314T>A | |
| ENST00000696455.1:c.*16T>A (FANCL) | ENSP00000512642.1:n.*16T>A | |
| ENST00000696456.1:n.473T>A (FANCL) | ||
| ENST00000696457.1:c.*1734T>A (FANCL) | ENSP00000512643.1:n.*1734T>A | |
| ENST00000696458.1:c.824T>A (FANCL) | ENSP00000512644.1:p.Ile275Asn | |
| ENST00000696459.1:c.*398T>A (FANCL) | ENSP00000512645.1:n.*398T>A | |
| ENST00000696460.1:n.1460T>A (FANCL) | ||
| ENST00000696467.1:c.*459T>A (FANCL) | ENSP00000512648.1:n.*459T>A | |
| ENST00000696468.1:c.*455T>A (FANCL) | ENSP00000512649.1:n.*455T>A | |
| ENST00000696469.1:c.*110T>A (FANCL) | ENSP00000512650.1:n.*110T>A | |
| ENST00000696470.1:n.3131T>A (FANCL) | ||
| ENST00000696471.1:n.633T>A (FANCL) | ||
| ENST00000696472.1:c.*16T>A (FANCL) | ENSP00000512651.1:n.*16T>A | |
| ENST00000696473.1:c.*646T>A (FANCL) | ENSP00000512652.1:n.*646T>A | |
| ENST00000696474.1:n.839T>A (FANCL) | ||
| ENST00000696475.1:n.2471T>A (FANCL) | ||
| ENST00000696492.1:c.*628T>A (FANCL) | ENSP00000512662.1:n.*628T>A | |
| ENST00000696493.1:c.*811T>A (FANCL) | ENSP00000512663.1:n.*811T>A | |
| ENST00000696494.1:n.995T>A (FANCL) | ||
| ENST00000696495.1:c.*709T>A (FANCL) | ENSP00000512664.1:n.*709T>A | |
| ENST00000696496.1:n.1502T>A (FANCL) | ||
| ENST00000696497.1:n.4260T>A (FANCL) | ||
| ENST00000696498.1:n.1722T>A (FANCL) | ||
| ENST00000696499.1:c.*400T>A (FANCL) | ENSP00000512665.1:n.*400T>A | |
| ENST00000696508.1:c.*518T>A (FANCL) | ENSP00000512674.1:n.*518T>A | |
| ENST00000696509.1:c.*840T>A (FANCL) | ENSP00000512675.1:n.*840T>A | |
| ENST00000696510.1:c.435T>A (FANCL) | ENSP00000512676.1:p.Asp145Glu | |
| ENST00000696527.1:c.*16T>A (FANCL) | ENSP00000512690.1:n.*16T>A | |
| ENST00000696528.1:c.*16T>A (FANCL) | ENSP00000512691.1:n.*16T>A | |
| ENST00000696529.1:n.826T>A (FANCL) | ||
| ENST00000696530.1:c.759T>A (FANCL) | ENSP00000512692.1:p.Asp253Glu | |
| ENST00000696531.1:c.*495T>A (FANCL) | ENSP00000512693.1:n.*495T>A | |
| ENST00000696532.1:n.2110T>A (FANCL) | ||
| ENST00000696542.1:n.901T>A (FANCL) | ||
| ENST00000696543.1:c.*16T>A (FANCL) | ENSP00000512703.1:n.*16T>A | |
| ENST00000696544.1:c.*16T>A (FANCL) | ENSP00000512704.1:n.*16T>A | |
| ENST00000696545.1:c.*631T>A (FANCL) | ENSP00000512705.1:n.*631T>A | |
| ENST00000696546.1:c.*742T>A (FANCL) | ENSP00000512706.1:n.*742T>A | |
| ENST00000696547.1:c.951T>A (FANCL) | ENSP00000512707.1:p.Asp317Glu | |
| ENST00000696548.1:c.*1167T>A (FANCL) | ENSP00000512708.1:n.*1167T>A | |
| ENST00000696564.1:c.*16T>A (FANCL) | ENSP00000512722.1:n.*16T>A | |
| ENST00000696565.1:c.*16T>A (FANCL) | ENSP00000512723.1:n.*16T>A | |
| ENST00000696566.1:n.3551T>A (FANCL) | ||
| ENST00000696567.1:c.858T>A (FANCL) | ENSP00000512724.1:p.Asp286Glu | |
| ENST00000696569.1:n.1072T>A (FANCL) | ||
| ENST00000696570.1:c.*285T>A (FANCL) | ENSP00000512725.1:n.*285T>A | |
| ENST00000696619.1:n.2519T>A (FANCL) | ||
| ENST00000696620.1:c.555T>A (FANCL) | ENSP00000512759.1:p.Asp185Glu | |
| ENST00000696621.1:c.*110T>A (FANCL) | ENSP00000512760.1:n.*110T>A | |
| ENST00000696622.1:n.2694T>A (FANCL) | ||
| ENST00000696623.1:n.929T>A (FANCL) | ||
| ENST00000696624.1:c.894T>A (FANCL) | ENSP00000512761.1:p.Asp298Glu | |
| ENST00000696625.1:c.*413T>A (FANCL) | ENSP00000512762.1:n.*413T>A | |
| ENST00000696634.1:c.676T>A (FANCL) | ENSP00000512770.1:n.676T>A | |
| ENST00000696635.1:c.939T>A (FANCL) | ENSP00000512771.1:p.Asp313Glu | |
| ENST00000696636.1:n.3415T>A (FANCL) | ||
| ENST00000696637.1:n.8036T>A (FANCL) | ||
| ENST00000696638.1:n.978T>A (FANCL) | ||
| ENST00000696639.1:n.3041T>A (FANCL) | ||
| ENST00000233741.9:c.963T>A (FANCL) MANE Select | ENSP00000233741.5:p.Asp321Glu | |
| ENST00000233741.8:c.963T>A (FANCL) | ENSP00000233741.4:p.Asp321Glu | |
| ENST00000402135.7:c.978T>A (FANCL) | ENSP00000385021.3:p.Asp326Glu | |
| ENST00000403295.7:c.879T>A (FANCL) | ENSP00000386097.3:p.Asp293Glu | |
| ENST00000403676.5:c.612T>A (FANCL) | ENSP00000384046.1:p.Asp204Glu | |
| ENST00000449070.5:c.786T>A (FANCL) | ENSP00000401280.1:p.Asp262Glu | |
| NM_001114636.1:c.978T>A , LRG_501t1:c.978T>A (FANCL) | NP_001108108.1:p.Asp326Glu | |
| NM_018062.3:c.963T>A , LRG_501t2:c.963T>A (FANCL) | NP_060532.2:p.Asp321Glu | |
| XM_005264395.2:c.963T>A (FANCL) | XP_005264452.1:p.Asp321Glu | |
| XM_005264397.3:c.612T>A (FANCL) | XP_005264454.1:p.Asp204Glu | |
| XM_011532939.1:c.1023T>A (FANCL) | XP_011531241.1:p.Asp341Glu | |
| XM_011532940.1:c.1008T>A (FANCL) | XP_011531242.1:p.Asp336Glu | |
| XM_011532941.1:c.1023T>A (FANCL) | XP_011531243.1:p.Asp341Glu | |
| XM_011532942.1:c.978T>A (FANCL) | XP_011531244.1:p.Asp326Glu | |
| XM_011532943.1:c.1224T>A (FANCL) | XP_011531245.1:p.Asp408Glu | |
| XM_011532944.1:c.672T>A (FANCL) | XP_011531246.1:p.Asp224Glu | |
| XM_011532945.1:c.627T>A (FANCL) | XP_011531247.1:p.Asp209Glu | |
| XR_939692.1:n.962T>A (FANCL) | ||
| NR_156742.1:n.752T>A (FANCL) | ||
| XM_005264395.4:c.963T>A (FANCL) | XP_005264452.1:p.Asp321Glu | |
| XM_005264540.4:c.*1886A>T (VRK2) | XP_005264597.1:n.*1886A>T | |
| XM_006712092.4:c.*1886A>T (VRK2) | XP_006712155.1:n.*1886A>T | |
| XM_006712093.4:c.*1886A>T (VRK2) | XP_006712156.1:n.*1886A>T | |
| XM_011532939.3:c.1023T>A (FANCL) | XP_011531241.1:p.Asp341Glu | |
| XM_011532940.3:c.1008T>A (FANCL) | XP_011531242.1:p.Asp336Glu | |
| XM_011532941.2:c.1023T>A (FANCL) | XP_011531243.1:p.Asp341Glu | |
| XM_011532942.3:c.978T>A (FANCL) | XP_011531244.1:p.Asp326Glu | |
| XM_011532944.2:c.672T>A (FANCL) | XP_011531246.1:p.Asp224Glu | |
| XM_011532945.2:c.627T>A (FANCL) | XP_011531247.1:p.Asp209Glu | |
| XM_011533092.3:c.*1886A>T (VRK2) | XP_011531394.1:n.*1886A>T | |
| XM_017004414.2:c.1008T>A (FANCL) | XP_016859903.1:p.Asp336Glu | |
| XM_017004416.1:c.612T>A (FANCL) | XP_016859905.1:p.Asp204Glu | |
| XM_017004859.2:c.*1886A>T (VRK2) | XP_016860348.1:n.*1886A>T | |
| XM_017004860.2:c.*1886A>T (VRK2) | XP_016860349.1:n.*1886A>T | |
| XM_017004861.2:c.*1886A>T (VRK2) | XP_016860350.1:n.*1886A>T | |
| XM_017004862.2:c.*1886A>T (VRK2) | XP_016860351.1:n.*1886A>T | |
| XM_017004863.2:c.*1886A>T (VRK2) | XP_016860352.1:n.*1886A>T | |
| XM_017004864.2:c.*2263A>T (VRK2) | XP_016860353.1:n.*2263A>T | |
| XM_017004865.1:c.*2271A>T (VRK2) | XP_016860354.1:n.*2271A>T | |
| XM_017004866.1:c.*2271A>T (VRK2) | XP_016860355.1:n.*2271A>T | |
| XR_001738802.2:n.909T>A (FANCL) | ||
| XR_001738803.2:n.894T>A (FANCL) | ||
| XR_002959309.1:n.1605T>A (FANCL) | ||
| XR_939692.2:n.954T>A (FANCL) | ||
| NM_001374615.1:c.1008T>A (FANCL) | NP_001361544.1:p.Asp336Glu | |
| NM_018062.4:c.963T>A (FANCL) MANE Select | NP_060532.2:p.Asp321Glu | |
| NR_164659.1:n.844T>A (FANCL) |