WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
414854
dbSNP Id:
rs61753272
ExAC:
2:58390168 A / G
gnomAD v2:
2-58390168-A-G
gnomAD v3:
2-58163033-A-G
gnomAD v4:
2-58163033-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58163033A>G , CM000664.2:g.58163033A>G | GRCh38 |
| NC_000002.11:g.58390168A>G , CM000664.1:g.58390168A>G | GRCh37 |
| NC_000002.10:g.58243672A>G | NCBI36 |
| NG_007418.1:g.83347T>C , LRG_501:g.83347T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402135.8:c.832T>C (FANCL) | ENSP00000385021.3:p.Leu278= | |
| ENST00000403295.8:c.733T>C (FANCL) | ENSP00000386097.3:p.Leu245= | |
| ENST00000403676.6:c.*380T>C (FANCL) | ENSP00000384046.2:n.*380T>C | |
| ENST00000417361.2:c.*395T>C (FANCL) | ENSP00000389448.2:n.*395T>C | |
| ENST00000427708.7:c.862T>C (FANCL) | ENSP00000400969.3:p.Leu288= | |
| ENST00000446381.6:c.373T>C (FANCL) | ENSP00000390991.2:p.Leu125= | |
| ENST00000449070.6:c.640T>C (FANCL) | ENSP00000401280.2:p.Leu214= | |
| ENST00000470506.2:n.1250T>C (FANCL) | ||
| ENST00000696305.1:c.760T>C (FANCL) | ENSP00000512543.1:p.Leu254= | |
| ENST00000696306.1:c.*626T>C (FANCL) | ENSP00000512544.1:n.*626T>C | |
| ENST00000696307.1:c.817T>C (FANCL) | ENSP00000512545.1:p.Leu273= | |
| ENST00000696314.1:c.775+401T>C (FANCL) | ENSP00000512552.1:n.775+401T>C | |
| ENST00000696315.1:c.*380T>C (FANCL) | ENSP00000512553.1:n.*380T>C | |
| ENST00000696316.1:c.817T>C (FANCL) | ENSP00000512554.1:p.Leu273= | |
| ENST00000696317.1:c.817T>C (FANCL) | ENSP00000512555.1:p.Leu273= | |
| ENST00000696318.1:c.331+401T>C (FANCL) | ENSP00000512556.1:n.331+401T>C | |
| ENST00000696319.1:c.775T>C (FANCL) | ENSP00000512557.1:p.Leu259= | |
| ENST00000696320.1:n.1188T>C (FANCL) | ||
| ENST00000696324.1:c.*353+401T>C (FANCL) | ENSP00000512561.1:n.*353+401T>C | |
| ENST00000696325.1:n.3900T>C (FANCL) | ||
| ENST00000696326.1:c.877T>C (FANCL) | ENSP00000512562.1:p.Leu293= | |
| ENST00000696338.1:n.850T>C (FANCL) | ||
| ENST00000696339.1:n.2475+401T>C (FANCL) | ||
| ENST00000696340.1:n.3043T>C (FANCL) | ||
| ENST00000696341.1:n.1244T>C (FANCL) | ||
| ENST00000696342.1:c.*739T>C (FANCL) | ENSP00000512569.1:n.*739T>C | |
| ENST00000696343.1:n.2676T>C (FANCL) | ||
| ENST00000696344.1:c.*531T>C (FANCL) | ENSP00000512570.1:n.*531T>C | |
| ENST00000696345.1:n.1203T>C (FANCL) | ||
| ENST00000696358.1:n.3409T>C (FANCL) | ||
| ENST00000696359.1:n.1859T>C (FANCL) | ||
| ENST00000696360.1:n.1521T>C (FANCL) | ||
| ENST00000696361.1:c.*739T>C (FANCL) | ENSP00000512579.1:n.*739T>C | |
| ENST00000696362.1:c.*267T>C (FANCL) | ENSP00000512580.1:n.*267T>C | |
| ENST00000696363.1:n.2594T>C (FANCL) | ||
| ENST00000696364.1:n.1129T>C (FANCL) | ||
| ENST00000696371.1:c.808T>C (FANCL) | ENSP00000512586.1:p.Leu270= | |
| ENST00000696372.1:n.1825T>C (FANCL) | ||
| ENST00000696373.1:c.*739T>C (FANCL) | ENSP00000512587.1:n.*739T>C | |
| ENST00000696374.1:c.*267T>C (FANCL) | ENSP00000512588.1:n.*267T>C | |
| ENST00000696375.1:n.7669T>C (FANCL) | ||
| ENST00000696376.1:n.5295T>C (FANCL) | ||
| ENST00000696377.1:n.1063T>C (FANCL) | ||
| ENST00000696378.1:c.*754T>C (FANCL) | ENSP00000512589.1:n.*754T>C | |
| ENST00000696394.1:n.4238T>C (FANCL) | ||
| ENST00000696395.1:n.2950T>C (FANCL) | ||
| ENST00000696396.1:n.1890T>C (FANCL) | ||
| ENST00000696397.1:n.2861T>C (FANCL) | ||
| ENST00000696398.1:c.776-86T>C (FANCL) | ENSP00000512604.1:n.776-86T>C | |
| ENST00000696399.1:n.783T>C (FANCL) | ||
| ENST00000696400.1:c.*581T>C (FANCL) | ENSP00000512605.1:n.*581T>C | |
| ENST00000696401.1:n.758-86T>C (FANCL) | ||
| ENST00000696402.1:n.548T>C (FANCL) | ||
| ENST00000696409.1:c.*339-86T>C (FANCL) | ENSP00000512610.1:n.*339-86T>C | |
| ENST00000696410.1:c.*380T>C (FANCL) | ENSP00000512611.1:n.*380T>C | |
| ENST00000696411.1:n.441T>C (FANCL) | ||
| ENST00000696412.1:n.1316T>C (FANCL) | ||
| ENST00000696413.1:n.905+401T>C (FANCL) | ||
| ENST00000696414.1:n.1782T>C (FANCL) | ||
| ENST00000696415.1:c.832T>C (FANCL) | ENSP00000512612.1:p.Leu278= | |
| ENST00000696416.1:n.744T>C (FANCL) | ||
| ENST00000696417.1:c.*547T>C (FANCL) | ENSP00000512613.1:n.*547T>C | |
| ENST00000696432.1:n.3276T>C (FANCL) | ||
| ENST00000696433.1:c.331+401T>C (FANCL) | ENSP00000512627.1:n.331+401T>C | |
| ENST00000696434.1:c.655T>C (FANCL) | ENSP00000512628.1:p.Leu219= | |
| ENST00000696435.1:c.332-86T>C (FANCL) | ENSP00000512629.1:n.332-86T>C | |
| ENST00000696436.1:n.853T>C (FANCL) | ||
| ENST00000696437.1:n.1234T>C (FANCL) | ||
| ENST00000696438.1:c.*650T>C (FANCL) | ENSP00000512630.1:n.*650T>C | |
| ENST00000696439.1:n.2866T>C (FANCL) | ||
| ENST00000696440.1:n.1939+401T>C (FANCL) | ||
| ENST00000696454.1:c.*255-1395T>C (FANCL) | ENSP00000512641.1:n.*255-1395T>C | |
| ENST00000696455.1:c.613+401T>C (FANCL) | ENSP00000512642.1:n.613+401T>C | |
| ENST00000696456.1:n.413+401T>C (FANCL) | ||
| ENST00000696457.1:c.*1588T>C (FANCL) | ENSP00000512643.1:n.*1588T>C | |
| ENST00000696458.1:c.760T>C (FANCL) | ENSP00000512644.1:p.Leu254= | |
| ENST00000696459.1:c.*338+401T>C (FANCL) | ENSP00000512645.1:n.*338+401T>C | |
| ENST00000696460.1:n.1233T>C (FANCL) | ||
| ENST00000696467.1:c.*395T>C (FANCL) | ENSP00000512648.1:n.*395T>C | |
| ENST00000696468.1:c.*309T>C (FANCL) | ENSP00000512649.1:n.*309T>C | |
| ENST00000696469.1:c.791-86T>C (FANCL) | ENSP00000512650.1:n.791-86T>C | |
| ENST00000696470.1:n.2904T>C (FANCL) | ||
| ENST00000696471.1:n.487T>C (FANCL) | ||
| ENST00000696472.1:c.790+401T>C (FANCL) | ENSP00000512651.1:n.790+401T>C | |
| ENST00000696473.1:c.*500T>C (FANCL) | ENSP00000512652.1:n.*500T>C | |
| ENST00000696474.1:n.698-86T>C (FANCL) | ||
| ENST00000696475.1:n.2411+401T>C (FANCL) | ||
| ENST00000696492.1:c.*482T>C (FANCL) | ENSP00000512662.1:n.*482T>C | |
| ENST00000696493.1:c.*665T>C (FANCL) | ENSP00000512663.1:n.*665T>C | |
| ENST00000696494.1:n.935+401T>C (FANCL) | ||
| ENST00000696495.1:c.*563T>C (FANCL) | ENSP00000512664.1:n.*563T>C | |
| ENST00000696496.1:n.1275T>C (FANCL) | ||
| ENST00000696497.1:n.4114T>C (FANCL) | ||
| ENST00000696498.1:n.1662+401T>C (FANCL) | ||
| ENST00000696499.1:c.*254T>C (FANCL) | ENSP00000512665.1:n.*254T>C | |
| ENST00000696508.1:c.*380T>C (FANCL) | ENSP00000512674.1:n.*380T>C | |
| ENST00000696509.1:c.*613T>C (FANCL) | ENSP00000512675.1:n.*613T>C | |
| ENST00000696510.1:c.289T>C (FANCL) | ENSP00000512676.1:p.Leu97= | |
| ENST00000696527.1:c.775+401T>C (FANCL) | ENSP00000512690.1:n.775+401T>C | |
| ENST00000696528.1:c.718+401T>C (FANCL) | ENSP00000512691.1:n.718+401T>C | |
| ENST00000696529.1:n.680T>C (FANCL) | ||
| ENST00000696530.1:c.613T>C (FANCL) | ENSP00000512692.1:p.Leu205= | |
| ENST00000696531.1:c.*354-86T>C (FANCL) | ENSP00000512693.1:n.*354-86T>C | |
| ENST00000696532.1:n.1964T>C (FANCL) | ||
| ENST00000696542.1:n.674T>C (FANCL) | ||
| ENST00000696543.1:c.598+401T>C (FANCL) | ENSP00000512703.1:n.598+401T>C | |
| ENST00000696544.1:c.655+401T>C (FANCL) | ENSP00000512704.1:n.655+401T>C | |
| ENST00000696545.1:c.*490-86T>C (FANCL) | ENSP00000512705.1:n.*490-86T>C | |
| ENST00000696546.1:c.*596T>C (FANCL) | ENSP00000512706.1:n.*596T>C | |
| ENST00000696547.1:c.805T>C (FANCL) | ENSP00000512707.1:p.Leu269= | |
| ENST00000696548.1:c.*940T>C (FANCL) | ENSP00000512708.1:n.*940T>C | |
| ENST00000696564.1:c.820+401T>C (FANCL) | ENSP00000512722.1:n.820+401T>C | |
| ENST00000696565.1:c.835+401T>C (FANCL) | ENSP00000512723.1:n.835+401T>C | |
| ENST00000696566.1:n.3324T>C (FANCL) | ||
| ENST00000696567.1:c.776-145T>C (FANCL) | ENSP00000512724.1:n.776-145T>C | |
| ENST00000696569.1:n.845T>C (FANCL) | ||
| ENST00000696570.1:c.*225+401T>C (FANCL) | ENSP00000512725.1:n.*225+401T>C | |
| ENST00000696619.1:n.2292T>C (FANCL) | ||
| ENST00000696620.1:c.409T>C (FANCL) | ENSP00000512759.1:p.Leu137= | |
| ENST00000696621.1:c.692-86T>C (FANCL) | ENSP00000512760.1:n.692-86T>C | |
| ENST00000696622.1:n.1240T>C (FANCL) | ||
| ENST00000696623.1:n.702T>C (FANCL) | ||
| ENST00000696624.1:c.748T>C (FANCL) | ENSP00000512761.1:p.Leu250= | |
| ENST00000696625.1:c.*267T>C (FANCL) | ENSP00000512762.1:n.*267T>C | |
| ENST00000696634.1:c.530T>C (FANCL) | ENSP00000512770.1:n.530T>C | |
| ENST00000696635.1:c.793T>C (FANCL) | ENSP00000512771.1:p.Leu265= | |
| ENST00000696636.1:n.1961T>C (FANCL) | ||
| ENST00000696637.1:n.7809T>C (FANCL) | ||
| ENST00000696638.1:n.832T>C (FANCL) | ||
| ENST00000696639.1:n.2814T>C (FANCL) | ||
| ENST00000233741.9:c.817T>C (FANCL) MANE Select | ENSP00000233741.5:p.Leu273= | |
| ENST00000233741.8:c.817T>C (FANCL) | ENSP00000233741.4:p.Leu273= | |
| ENST00000402135.7:c.832T>C (FANCL) | ENSP00000385021.3:p.Leu278= | |
| ENST00000403295.7:c.733T>C (FANCL) | ENSP00000386097.3:p.Leu245= | |
| ENST00000403676.5:c.466T>C (FANCL) | ENSP00000384046.1:p.Leu156= | |
| ENST00000427708.6:c.860T>C (FANCL) | ||
| ENST00000446381.5:c.373T>C (FANCL) | ENSP00000390991.1:p.Leu125= | |
| ENST00000449070.5:c.640T>C (FANCL) | ENSP00000401280.1:p.Leu214= | |
| ENST00000470506.1:n.565T>C (FANCL) | ||
| NM_001114636.1:c.832T>C , LRG_501t1:c.832T>C (FANCL) | NP_001108108.1:p.Leu278= | |
| NM_018062.3:c.817T>C , LRG_501t2:c.817T>C (FANCL) | NP_060532.2:p.Leu273= | |
| XM_005264395.2:c.817T>C (FANCL) | XP_005264452.1:p.Leu273= | |
| XM_005264397.3:c.466T>C (FANCL) | XP_005264454.1:p.Leu156= | |
| XM_011532939.1:c.877T>C (FANCL) | XP_011531241.1:p.Leu293= | |
| XM_011532940.1:c.862T>C (FANCL) | XP_011531242.1:p.Leu288= | |
| XM_011532941.1:c.877T>C (FANCL) | XP_011531243.1:p.Leu293= | |
| XM_011532942.1:c.832T>C (FANCL) | XP_011531244.1:p.Leu278= | |
| XM_011532943.1:c.1078T>C (FANCL) | XP_011531245.1:p.Leu360= | |
| XM_011532944.1:c.526T>C (FANCL) | XP_011531246.1:p.Leu176= | |
| XM_011532945.1:c.481T>C (FANCL) | XP_011531247.1:p.Leu161= | |
| XR_939692.1:n.902+401T>C (FANCL) | ||
| NR_156742.1:n.606T>C (FANCL) | ||
| XM_005264395.4:c.817T>C (FANCL) | XP_005264452.1:p.Leu273= | |
| XM_006712092.4:c.*3340A>G (VRK2) | XP_006712155.1:n.*3340A>G | |
| XM_006712093.4:c.*3340A>G (VRK2) | XP_006712156.1:n.*3340A>G | |
| XM_011532939.3:c.877T>C (FANCL) | XP_011531241.1:p.Leu293= | |
| XM_011532940.3:c.862T>C (FANCL) | XP_011531242.1:p.Leu288= | |
| XM_011532941.2:c.877T>C (FANCL) | XP_011531243.1:p.Leu293= | |
| XM_011532942.3:c.832T>C (FANCL) | XP_011531244.1:p.Leu278= | |
| XM_011532944.2:c.526T>C (FANCL) | XP_011531246.1:p.Leu176= | |
| XM_011532945.2:c.481T>C (FANCL) | XP_011531247.1:p.Leu161= | |
| XM_017004414.2:c.862T>C (FANCL) | XP_016859903.1:p.Leu288= | |
| XM_017004416.1:c.466T>C (FANCL) | XP_016859905.1:p.Leu156= | |
| XM_017004859.2:c.*3340A>G (VRK2) | XP_016860348.1:n.*3340A>G | |
| XM_017004860.2:c.*3340A>G (VRK2) | XP_016860349.1:n.*3340A>G | |
| XM_017004861.2:c.*3340A>G (VRK2) | XP_016860350.1:n.*3340A>G | |
| XM_017004862.2:c.*3340A>G (VRK2) | XP_016860351.1:n.*3340A>G | |
| XM_017004863.2:c.*3340A>G (VRK2) | XP_016860352.1:n.*3340A>G | |
| XM_017004864.2:c.*3717A>G (VRK2) | XP_016860353.1:n.*3717A>G | |
| XM_017004865.1:c.*3725A>G (VRK2) | XP_016860354.1:n.*3725A>G | |
| XM_017004866.1:c.*3725A>G (VRK2) | XP_016860355.1:n.*3725A>G | |
| XR_001738802.2:n.849+401T>C (FANCL) | ||
| XR_001738803.2:n.834+401T>C (FANCL) | ||
| XR_002959309.1:n.1378T>C (FANCL) | ||
| XR_939692.2:n.894+401T>C (FANCL) | ||
| NM_001374615.1:c.862T>C (FANCL) | NP_001361544.1:p.Leu288= | |
| NM_018062.4:c.817T>C (FANCL) MANE Select | NP_060532.2:p.Leu273= | |
| NR_164659.1:n.784+401T>C (FANCL) |