Linked Data
ClinVar Variation Id:
336653
dbSNP Id:
rs200819615
ExAC:
2:58388708 C / T
gnomAD v2:
2-58388708-C-T
gnomAD v3:
2-58161573-C-T
gnomAD v4:
2-58161573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58161573C>T , CM000664.2:g.58161573C>T | GRCh38 |
| NC_000002.11:g.58388708C>T , CM000664.1:g.58388708C>T | GRCh37 |
| NC_000002.10:g.58242212C>T | NCBI36 |
| NG_007418.1:g.84807G>A , LRG_501:g.84807G>A | |
| NG_029717.2:g.258833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.984G>A (FANCL) | ENSP00000385021.3:p.Val328= | |
| ENST00000403295.8:c.885G>A (FANCL) | ENSP00000386097.3:p.Val295= | |
| ENST00000403676.6:c.*532G>A (FANCL) | ENSP00000384046.2:n.*532G>A | |
| ENST00000417361.2:c.*547G>A (FANCL) | ENSP00000389448.2:n.*547G>A | |
| ENST00000427708.7:c.1014G>A (FANCL) | ENSP00000400969.3:p.Val338= | |
| ENST00000446381.6:c.525G>A (FANCL) | ENSP00000390991.2:p.Val175= | |
| ENST00000449070.6:c.792G>A (FANCL) | ENSP00000401280.2:p.Val264= | |
| ENST00000470506.2:n.1483G>A (FANCL) | ||
| ENST00000696305.1:c.912G>A (FANCL) | ENSP00000512543.1:p.Val304= | |
| ENST00000696306.1:c.*859G>A (FANCL) | ENSP00000512544.1:n.*859G>A | |
| ENST00000696307.1:c.954G>A (FANCL) | ENSP00000512545.1:p.Val318= | |
| ENST00000696314.1:c.*22G>A (FANCL) | ENSP00000512552.1:n.*22G>A | |
| ENST00000696315.1:c.*532G>A (FANCL) | ENSP00000512553.1:n.*532G>A | |
| ENST00000696316.1:c.903+1293G>A (FANCL) | ENSP00000512554.1:n.903+1293G>A | |
| ENST00000696317.1:c.887G>A (FANCL) | ENSP00000512555.1:p.Cys296Tyr | |
| ENST00000696318.1:c.*22G>A (FANCL) | ENSP00000512556.1:n.*22G>A | |
| ENST00000696319.1:c.927G>A (FANCL) | ENSP00000512557.1:p.Val309= | |
| ENST00000696320.1:n.2648G>A (FANCL) | ||
| ENST00000696324.1:c.*419G>A (FANCL) | ENSP00000512561.1:n.*419G>A | |
| ENST00000696325.1:n.4052G>A (FANCL) | ||
| ENST00000696326.1:c.1029G>A (FANCL) | ENSP00000512562.1:p.Val343= | |
| ENST00000696338.1:n.1083G>A (FANCL) | ||
| ENST00000696339.1:n.2541G>A (FANCL) | ||
| ENST00000696340.1:n.3195G>A (FANCL) | ||
| ENST00000696341.1:n.1477G>A (FANCL) | ||
| ENST00000696342.1:c.*2199G>A (FANCL) | ENSP00000512569.1:n.*2199G>A | |
| ENST00000696343.1:n.2828G>A (FANCL) | ||
| ENST00000696344.1:c.*683G>A (FANCL) | ENSP00000512570.1:n.*683G>A | |
| ENST00000696358.1:n.3642G>A (FANCL) | ||
| ENST00000696359.1:n.3319G>A (FANCL) | ||
| ENST00000696360.1:n.1754G>A (FANCL) | ||
| ENST00000696361.1:c.*972G>A (FANCL) | ENSP00000512579.1:n.*972G>A | |
| ENST00000696362.1:c.*419G>A (FANCL) | ENSP00000512580.1:n.*419G>A | |
| ENST00000696363.1:n.2746G>A (FANCL) | ||
| ENST00000696364.1:n.1362G>A (FANCL) | ||
| ENST00000696371.1:c.960G>A (FANCL) | ENSP00000512586.1:p.Val320= | |
| ENST00000696372.1:n.2058G>A (FANCL) | ||
| ENST00000696373.1:c.*2199G>A (FANCL) | ENSP00000512587.1:n.*2199G>A | |
| ENST00000696374.1:c.*337G>A (FANCL) | ENSP00000512588.1:n.*337G>A | |
| ENST00000696375.1:n.7902G>A (FANCL) | ||
| ENST00000696376.1:n.6755G>A (FANCL) | ||
| ENST00000696378.1:c.*987G>A (FANCL) | ENSP00000512589.1:n.*987G>A | |
| ENST00000696394.1:n.4471G>A (FANCL) | ||
| ENST00000696395.1:n.4410G>A (FANCL) | ||
| ENST00000696396.1:n.2123G>A (FANCL) | ||
| ENST00000696397.1:n.3094G>A (FANCL) | ||
| ENST00000696398.1:c.*116G>A (FANCL) | ENSP00000512604.1:n.*116G>A | |
| ENST00000696399.1:n.2243G>A (FANCL) | ||
| ENST00000696400.1:c.*733G>A (FANCL) | ENSP00000512605.1:n.*733G>A | |
| ENST00000696401.1:n.905G>A (FANCL) | ||
| ENST00000696409.1:c.*486G>A (FANCL) | ENSP00000512610.1:n.*486G>A | |
| ENST00000696410.1:c.*450G>A (FANCL) | ENSP00000512611.1:n.*450G>A | |
| ENST00000696411.1:n.674G>A (FANCL) | ||
| ENST00000696412.1:n.1468G>A (FANCL) | ||
| ENST00000696413.1:n.971G>A (FANCL) | ||
| ENST00000696414.1:n.2015G>A (FANCL) | ||
| ENST00000696415.1:c.902G>A (FANCL) | ENSP00000512612.1:p.Cys301Tyr | |
| ENST00000696416.1:n.977G>A (FANCL) | ||
| ENST00000696432.1:n.3428G>A (FANCL) | ||
| ENST00000696433.1:c.*22G>A (FANCL) | ENSP00000512627.1:n.*22G>A | |
| ENST00000696434.1:c.807G>A (FANCL) | ENSP00000512628.1:p.Val269= | |
| ENST00000696435.1:c.*116G>A (FANCL) | ENSP00000512629.1:n.*116G>A | |
| ENST00000696436.1:n.923G>A (FANCL) | ||
| ENST00000696437.1:n.1386G>A (FANCL) | ||
| ENST00000696438.1:c.*802G>A (FANCL) | ENSP00000512630.1:n.*802G>A | |
| ENST00000696439.1:n.3018G>A (FANCL) | ||
| ENST00000696440.1:n.2005G>A (FANCL) | ||
| ENST00000696454.1:c.*320G>A (FANCL) | ENSP00000512641.1:n.*320G>A | |
| ENST00000696455.1:c.*22G>A (FANCL) | ENSP00000512642.1:n.*22G>A | |
| ENST00000696456.1:n.479G>A (FANCL) | ||
| ENST00000696457.1:c.*1740G>A (FANCL) | ENSP00000512643.1:n.*1740G>A | |
| ENST00000696458.1:c.830G>A (FANCL) | ENSP00000512644.1:p.Cys277Tyr | |
| ENST00000696459.1:c.*404G>A (FANCL) | ENSP00000512645.1:n.*404G>A | |
| ENST00000696460.1:n.1466G>A (FANCL) | ||
| ENST00000696467.1:c.*465G>A (FANCL) | ENSP00000512648.1:n.*465G>A | |
| ENST00000696468.1:c.*461G>A (FANCL) | ENSP00000512649.1:n.*461G>A | |
| ENST00000696469.1:c.*116G>A (FANCL) | ENSP00000512650.1:n.*116G>A | |
| ENST00000696470.1:n.3137G>A (FANCL) | ||
| ENST00000696471.1:n.639G>A (FANCL) | ||
| ENST00000696472.1:c.*22G>A (FANCL) | ENSP00000512651.1:n.*22G>A | |
| ENST00000696473.1:c.*652G>A (FANCL) | ENSP00000512652.1:n.*652G>A | |
| ENST00000696474.1:n.845G>A (FANCL) | ||
| ENST00000696475.1:n.2477G>A (FANCL) | ||
| ENST00000696492.1:c.*634G>A (FANCL) | ENSP00000512662.1:n.*634G>A | |
| ENST00000696493.1:c.*817G>A (FANCL) | ENSP00000512663.1:n.*817G>A | |
| ENST00000696494.1:n.1001G>A (FANCL) | ||
| ENST00000696495.1:c.*715G>A (FANCL) | ENSP00000512664.1:n.*715G>A | |
| ENST00000696496.1:n.1508G>A (FANCL) | ||
| ENST00000696497.1:n.4266G>A (FANCL) | ||
| ENST00000696498.1:n.1728G>A (FANCL) | ||
| ENST00000696499.1:c.*406G>A (FANCL) | ENSP00000512665.1:n.*406G>A | |
| ENST00000696508.1:c.*524G>A (FANCL) | ENSP00000512674.1:n.*524G>A | |
| ENST00000696509.1:c.*846G>A (FANCL) | ENSP00000512675.1:n.*846G>A | |
| ENST00000696510.1:c.441G>A (FANCL) | ENSP00000512676.1:p.Val147= | |
| ENST00000696527.1:c.*22G>A (FANCL) | ENSP00000512690.1:n.*22G>A | |
| ENST00000696528.1:c.*22G>A (FANCL) | ENSP00000512691.1:n.*22G>A | |
| ENST00000696529.1:n.832G>A (FANCL) | ||
| ENST00000696530.1:c.765G>A (FANCL) | ENSP00000512692.1:p.Val255= | |
| ENST00000696531.1:c.*501G>A (FANCL) | ENSP00000512693.1:n.*501G>A | |
| ENST00000696532.1:n.2116G>A (FANCL) | ||
| ENST00000696542.1:n.907G>A (FANCL) | ||
| ENST00000696543.1:c.*22G>A (FANCL) | ENSP00000512703.1:n.*22G>A | |
| ENST00000696544.1:c.*22G>A (FANCL) | ENSP00000512704.1:n.*22G>A | |
| ENST00000696545.1:c.*637G>A (FANCL) | ENSP00000512705.1:n.*637G>A | |
| ENST00000696546.1:c.*748G>A (FANCL) | ENSP00000512706.1:n.*748G>A | |
| ENST00000696547.1:c.957G>A (FANCL) | ENSP00000512707.1:p.Val319= | |
| ENST00000696548.1:c.*1173G>A (FANCL) | ENSP00000512708.1:n.*1173G>A | |
| ENST00000696564.1:c.*22G>A (FANCL) | ENSP00000512722.1:n.*22G>A | |
| ENST00000696565.1:c.*22G>A (FANCL) | ENSP00000512723.1:n.*22G>A | |
| ENST00000696566.1:n.3557G>A (FANCL) | ||
| ENST00000696567.1:c.864G>A (FANCL) | ENSP00000512724.1:p.Val288= | |
| ENST00000696569.1:n.1078G>A (FANCL) | ||
| ENST00000696570.1:c.*291G>A (FANCL) | ENSP00000512725.1:n.*291G>A | |
| ENST00000696619.1:n.2525G>A (FANCL) | ||
| ENST00000696620.1:c.561G>A (FANCL) | ENSP00000512759.1:p.Val187= | |
| ENST00000696621.1:c.*116G>A (FANCL) | ENSP00000512760.1:n.*116G>A | |
| ENST00000696622.1:n.2700G>A (FANCL) | ||
| ENST00000696623.1:n.935G>A (FANCL) | ||
| ENST00000696624.1:c.900G>A (FANCL) | ENSP00000512761.1:p.Val300= | |
| ENST00000696625.1:c.*419G>A (FANCL) | ENSP00000512762.1:n.*419G>A | |
| ENST00000696634.1:c.682G>A (FANCL) | ENSP00000512770.1:n.682G>A | |
| ENST00000696635.1:c.945G>A (FANCL) | ENSP00000512771.1:p.Val315= | |
| ENST00000696636.1:n.3421G>A (FANCL) | ||
| ENST00000696637.1:n.8042G>A (FANCL) | ||
| ENST00000696638.1:n.984G>A (FANCL) | ||
| ENST00000696639.1:n.3047G>A (FANCL) | ||
| ENST00000233741.9:c.969G>A (FANCL) MANE Select | ENSP00000233741.5:p.Val323= | |
| ENST00000233741.8:c.969G>A (FANCL) | ENSP00000233741.4:p.Val323= | |
| ENST00000402135.7:c.984G>A (FANCL) | ENSP00000385021.3:p.Val328= | |
| ENST00000403295.7:c.885G>A (FANCL) | ENSP00000386097.3:p.Val295= | |
| ENST00000403676.5:c.618G>A (FANCL) | ENSP00000384046.1:p.Val206= | |
| ENST00000449070.5:c.792G>A (FANCL) | ENSP00000401280.1:p.Val264= | |
| NM_001114636.1:c.984G>A , LRG_501t1:c.984G>A (FANCL) | NP_001108108.1:p.Val328= | |
| NM_018062.3:c.969G>A , LRG_501t2:c.969G>A (FANCL) | NP_060532.2:p.Val323= | |
| XM_005264395.2:c.969G>A (FANCL) | XP_005264452.1:p.Val323= | |
| XM_005264397.3:c.618G>A (FANCL) | XP_005264454.1:p.Val206= | |
| XM_011532939.1:c.1029G>A (FANCL) | XP_011531241.1:p.Val343= | |
| XM_011532940.1:c.1014G>A (FANCL) | XP_011531242.1:p.Val338= | |
| XM_011532941.1:c.1029G>A (FANCL) | XP_011531243.1:p.Val343= | |
| XM_011532942.1:c.984G>A (FANCL) | XP_011531244.1:p.Val328= | |
| XM_011532943.1:c.1230G>A (FANCL) | XP_011531245.1:p.Val410= | |
| XM_011532944.1:c.678G>A (FANCL) | XP_011531246.1:p.Val226= | |
| XM_011532945.1:c.633G>A (FANCL) | XP_011531247.1:p.Val211= | |
| XR_939692.1:n.968G>A (FANCL) | ||
| NR_156742.1:n.758G>A (FANCL) | ||
| XM_005264395.4:c.969G>A (FANCL) | XP_005264452.1:p.Val323= | |
| XM_005264540.4:c.*1880C>T (VRK2) | XP_005264597.1:n.*1880C>T | |
| XM_006712092.4:c.*1880C>T (VRK2) | XP_006712155.1:n.*1880C>T | |
| XM_006712093.4:c.*1880C>T (VRK2) | XP_006712156.1:n.*1880C>T | |
| XM_011532939.3:c.1029G>A (FANCL) | XP_011531241.1:p.Val343= | |
| XM_011532940.3:c.1014G>A (FANCL) | XP_011531242.1:p.Val338= | |
| XM_011532941.2:c.1029G>A (FANCL) | XP_011531243.1:p.Val343= | |
| XM_011532942.3:c.984G>A (FANCL) | XP_011531244.1:p.Val328= | |
| XM_011532944.2:c.678G>A (FANCL) | XP_011531246.1:p.Val226= | |
| XM_011532945.2:c.633G>A (FANCL) | XP_011531247.1:p.Val211= | |
| XM_011533092.3:c.*1880C>T (VRK2) | XP_011531394.1:n.*1880C>T | |
| XM_017004414.2:c.1014G>A (FANCL) | XP_016859903.1:p.Val338= | |
| XM_017004416.1:c.618G>A (FANCL) | XP_016859905.1:p.Val206= | |
| XM_017004859.2:c.*1880C>T (VRK2) | XP_016860348.1:n.*1880C>T | |
| XM_017004860.2:c.*1880C>T (VRK2) | XP_016860349.1:n.*1880C>T | |
| XM_017004861.2:c.*1880C>T (VRK2) | XP_016860350.1:n.*1880C>T | |
| XM_017004862.2:c.*1880C>T (VRK2) | XP_016860351.1:n.*1880C>T | |
| XM_017004863.2:c.*1880C>T (VRK2) | XP_016860352.1:n.*1880C>T | |
| XM_017004864.2:c.*2257C>T (VRK2) | XP_016860353.1:n.*2257C>T | |
| XM_017004865.1:c.*2265C>T (VRK2) | XP_016860354.1:n.*2265C>T | |
| XM_017004866.1:c.*2265C>T (VRK2) | XP_016860355.1:n.*2265C>T | |
| XR_001738802.2:n.915G>A (FANCL) | ||
| XR_001738803.2:n.900G>A (FANCL) | ||
| XR_002959309.1:n.1611G>A (FANCL) | ||
| XR_939692.2:n.960G>A (FANCL) | ||
| NM_001374615.1:c.1014G>A (FANCL) | NP_001361544.1:p.Val338= | |
| NM_018062.4:c.969G>A (FANCL) MANE Select | NP_060532.2:p.Val323= | |
| NR_164659.1:n.850G>A (FANCL) |