UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161544710T>A | CA343367331 | FCGR3A | c.568A>T (p.Ile190Phe) c.565A>T (p.Ile189Phe) c.517A>T (p.Ile173Phe) c.676A>T (p.Ile226Phe) c.618A>T c.673A>T (p.Ile225Phe) c.428-1511A>T (n.428-1511A>T) c.883A>T (p.Ile295Phe) c.880A>T (p.Ile294Phe) c.635-1511A>T (n.635-1511A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161544710T>C | CA343367332 | FCGR3A | c.568A>G (p.Ile190Val) c.565A>G (p.Ile189Val) c.517A>G (p.Ile173Val) c.676A>G (p.Ile226Val) c.618A>G c.673A>G (p.Ile225Val) c.428-1511A>G (n.428-1511A>G) c.883A>G (p.Ile295Val) c.880A>G (p.Ile294Val) c.635-1511A>G (n.635-1511A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161544710T>G | CA343367333 | FCGR3A | c.568A>C (p.Ile190Leu) c.565A>C (p.Ile189Leu) c.517A>C (p.Ile173Leu) c.676A>C (p.Ile226Leu) c.618A>C c.673A>C (p.Ile225Leu) c.428-1511A>C (n.428-1511A>C) c.883A>C (p.Ile295Leu) c.880A>C (p.Ile294Leu) c.635-1511A>C (n.635-1511A>C) | |
| 1 | g.161544710T= | CA1202785210 | FCGR3A | c.568A= (p.Ile190=) c.565A= (p.Ile189=) c.517A= (p.Ile173=) c.676A= (p.Ile226=) c.618A= c.673A= (p.Ile225=) c.428-1511A= (n.428-1511A=) c.883A= (p.Ile295=) c.880A= (p.Ile294=) c.635-1511A= (n.635-1511A=) | |
| 1 | g.161544711G>A | CA1211374 | FCGR3A | c.567C>T (p.Thr189=) c.564C>T (p.Thr188=) c.516C>T (p.Thr172=) c.675C>T (p.Thr225=) c.617C>T c.672C>T (p.Thr224=) c.428-1512C>T (n.428-1512C>T) c.882C>T (p.Thr294=) c.879C>T (p.Thr293=) c.635-1512C>T (n.635-1512C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161544711G>C | CA421612336 | FCGR3A | c.567C>G (p.Thr189=) c.564C>G (p.Thr188=) c.516C>G (p.Thr172=) c.675C>G (p.Thr225=) c.617C>G c.672C>G (p.Thr224=) c.428-1512C>G (n.428-1512C>G) c.882C>G (p.Thr294=) c.879C>G (p.Thr293=) c.635-1512C>G (n.635-1512C>G) | |
| 1 | g.161544711G= | CA1202785211 | FCGR3A | c.567C= (p.Thr189=) c.564C= (p.Thr188=) c.516C= (p.Thr172=) c.675C= (p.Thr225=) c.617C= c.672C= (p.Thr224=) c.428-1512C= (n.428-1512C=) c.882C= (p.Thr294=) c.879C= (p.Thr293=) c.635-1512C= (n.635-1512C=) | |
| 1 | g.161544711G>T | CA421612338 | FCGR3A | c.567C>A (p.Thr189=) c.564C>A (p.Thr188=) c.516C>A (p.Thr172=) c.675C>A (p.Thr225=) c.617C>A c.672C>A (p.Thr224=) c.428-1512C>A (n.428-1512C>A) c.882C>A (p.Thr294=) c.879C>A (p.Thr293=) c.635-1512C>A (n.635-1512C>A) | |
| 1 | g.161544712G>A | CA343367336 | FCGR3A | c.566C>T (p.Thr189Ile) c.563C>T (p.Thr188Ile) c.515C>T (p.Thr172Ile) c.674C>T (p.Thr225Ile) c.616C>T c.671C>T (p.Thr224Ile) c.428-1513C>T (n.428-1513C>T) c.881C>T (p.Thr294Ile) c.878C>T (p.Thr293Ile) c.635-1513C>T (n.635-1513C>T) | gnomAD v4 |
| 1 | g.161544712G>C | CA343367334 | FCGR3A | c.566C>G (p.Thr189Ser) c.563C>G (p.Thr188Ser) c.515C>G (p.Thr172Ser) c.674C>G (p.Thr225Ser) c.616C>G c.671C>G (p.Thr224Ser) c.428-1513C>G (n.428-1513C>G) c.881C>G (p.Thr294Ser) c.878C>G (p.Thr293Ser) c.635-1513C>G (n.635-1513C>G) | |
| 1 | g.161544712G>T | CA343367335 | FCGR3A | c.566C>A (p.Thr189Asn) c.563C>A (p.Thr188Asn) c.515C>A (p.Thr172Asn) c.674C>A (p.Thr225Asn) c.616C>A c.671C>A (p.Thr224Asn) c.428-1513C>A (n.428-1513C>A) c.881C>A (p.Thr294Asn) c.878C>A (p.Thr293Asn) c.635-1513C>A (n.635-1513C>A) | |
| 1 | g.161544713T>A | CA343367337 | FCGR3A | c.565A>T (p.Thr189Ser) c.562A>T (p.Thr188Ser) c.514A>T (p.Thr172Ser) c.673A>T (p.Thr225Ser) c.615A>T c.670A>T (p.Thr224Ser) c.428-1514A>T (n.428-1514A>T) c.880A>T (p.Thr294Ser) c.877A>T (p.Thr293Ser) c.635-1514A>T (n.635-1514A>T) | |
| 1 | g.161544713T>C | CA343367338 | FCGR3A | c.565A>G (p.Thr189Ala) c.562A>G (p.Thr188Ala) c.514A>G (p.Thr172Ala) c.673A>G (p.Thr225Ala) c.615A>G c.670A>G (p.Thr224Ala) c.428-1514A>G (n.428-1514A>G) c.880A>G (p.Thr294Ala) c.877A>G (p.Thr293Ala) c.635-1514A>G (n.635-1514A>G) | |
| 1 | g.161544713T>G | CA343367339 | FCGR3A | c.565A>C (p.Thr189Pro) c.562A>C (p.Thr188Pro) c.514A>C (p.Thr172Pro) c.673A>C (p.Thr225Pro) c.615A>C c.670A>C (p.Thr224Pro) c.428-1514A>C (n.428-1514A>C) c.880A>C (p.Thr294Pro) c.877A>C (p.Thr293Pro) c.635-1514A>C (n.635-1514A>C) | |
| 1 | g.161544714G>A | CA421612342 | FCGR3A | c.564C>T (p.Ile188=) c.561C>T (p.Ile187=) c.513C>T (p.Ile171=) c.672C>T (p.Ile224=) c.614C>T c.669C>T (p.Ile223=) c.428-1515C>T (n.428-1515C>T) c.879C>T (p.Ile293=) c.876C>T (p.Ile292=) c.635-1515C>T (n.635-1515C>T) | COSMIC |
| 1 | g.161544714G>C | CA343367340 | FCGR3A | c.564C>G (p.Ile188Met) c.561C>G (p.Ile187Met) c.513C>G (p.Ile171Met) c.672C>G (p.Ile224Met) c.614C>G c.669C>G (p.Ile223Met) c.428-1515C>G (n.428-1515C>G) c.879C>G (p.Ile293Met) c.876C>G (p.Ile292Met) c.635-1515C>G (n.635-1515C>G) | |
| 1 | g.161544714G>T | CA421612340 | FCGR3A | c.564C>A (p.Ile188=) c.561C>A (p.Ile187=) c.513C>A (p.Ile171=) c.672C>A (p.Ile224=) c.614C>A c.669C>A (p.Ile223=) c.428-1515C>A (n.428-1515C>A) c.879C>A (p.Ile293=) c.876C>A (p.Ile292=) c.635-1515C>A (n.635-1515C>A) | |
| 1 | g.161544715A>C | CA343367341 | FCGR3A | c.563T>G (p.Ile188Ser) c.560T>G (p.Ile187Ser) c.512T>G (p.Ile171Ser) c.671T>G (p.Ile224Ser) c.613T>G c.668T>G (p.Ile223Ser) c.428-1516T>G (n.428-1516T>G) c.878T>G (p.Ile293Ser) c.875T>G (p.Ile292Ser) c.635-1516T>G (n.635-1516T>G) | |
| 1 | g.161544715A>G | CA343367342 | FCGR3A | c.563T>C (p.Ile188Thr) c.560T>C (p.Ile187Thr) c.512T>C (p.Ile171Thr) c.671T>C (p.Ile224Thr) c.613T>C c.668T>C (p.Ile223Thr) c.428-1516T>C (n.428-1516T>C) c.878T>C (p.Ile293Thr) c.875T>C (p.Ile292Thr) c.635-1516T>C (n.635-1516T>C) | |
| 1 | g.161544715A>T | CA343367343 | FCGR3A | c.563T>A (p.Ile188Asn) c.560T>A (p.Ile187Asn) c.512T>A (p.Ile171Asn) c.671T>A (p.Ile224Asn) c.613T>A c.668T>A (p.Ile223Asn) c.428-1516T>A (n.428-1516T>A) c.878T>A (p.Ile293Asn) c.875T>A (p.Ile292Asn) c.635-1516T>A (n.635-1516T>A) | |
| 1 | g.161544716T>A | CA343367344 | FCGR3A | c.562A>T (p.Ile188Phe) c.559A>T (p.Ile187Phe) c.511A>T (p.Ile171Phe) c.670A>T (p.Ile224Phe) c.612A>T c.667A>T (p.Ile223Phe) c.428-1517A>T (n.428-1517A>T) c.877A>T (p.Ile293Phe) c.874A>T (p.Ile292Phe) c.635-1517A>T (n.635-1517A>T) | |
| 1 | g.161544716T>C | CA343367345 | FCGR3A | c.562A>G (p.Ile188Val) c.559A>G (p.Ile187Val) c.511A>G (p.Ile171Val) c.670A>G (p.Ile224Val) c.612A>G c.667A>G (p.Ile223Val) c.428-1517A>G (n.428-1517A>G) c.877A>G (p.Ile293Val) c.874A>G (p.Ile292Val) c.635-1517A>G (n.635-1517A>G) | |
| 1 | g.161544716T>G | CA343367346 | FCGR3A | c.562A>C (p.Ile188Leu) c.559A>C (p.Ile187Leu) c.511A>C (p.Ile171Leu) c.670A>C (p.Ile224Leu) c.612A>C c.667A>C (p.Ile223Leu) c.428-1517A>C (n.428-1517A>C) c.877A>C (p.Ile293Leu) c.874A>C (p.Ile292Leu) c.635-1517A>C (n.635-1517A>C) | |
| 1 | g.161544717G>A | CA421612349 | FCGR3A | c.561C>T (p.Asn187=) c.558C>T (p.Asn186=) c.510C>T (p.Asn170=) c.669C>T (p.Asn223=) c.611C>T c.666C>T (p.Asn222=) c.428-1518C>T (n.428-1518C>T) c.876C>T (p.Asn292=) c.873C>T (p.Asn291=) c.635-1518C>T (n.635-1518C>T) | |
| 1 | g.161544717G>C | CA343367348 | FCGR3A | c.561C>G (p.Asn187Lys) c.558C>G (p.Asn186Lys) c.510C>G (p.Asn170Lys) c.669C>G (p.Asn223Lys) c.611C>G c.666C>G (p.Asn222Lys) c.428-1518C>G (n.428-1518C>G) c.876C>G (p.Asn292Lys) c.873C>G (p.Asn291Lys) c.635-1518C>G (n.635-1518C>G) | |
| 1 | g.161544717G>T | CA343367347 | FCGR3A | c.561C>A (p.Asn187Lys) c.558C>A (p.Asn186Lys) c.510C>A (p.Asn170Lys) c.669C>A (p.Asn223Lys) c.611C>A c.666C>A (p.Asn222Lys) c.428-1518C>A (n.428-1518C>A) c.876C>A (p.Asn292Lys) c.873C>A (p.Asn291Lys) c.635-1518C>A (n.635-1518C>A) | |
| 1 | g.161544718T>A | CA343367349 | FCGR3A | c.560A>T (p.Asn187Ile) c.557A>T (p.Asn186Ile) c.509A>T (p.Asn170Ile) c.668A>T (p.Asn223Ile) c.610A>T c.665A>T (p.Asn222Ile) c.428-1519A>T (n.428-1519A>T) c.875A>T (p.Asn292Ile) c.872A>T (p.Asn291Ile) c.635-1519A>T (n.635-1519A>T) | |
| 1 | g.161544718T>C | CA343367350 | FCGR3A | c.560A>G (p.Asn187Ser) c.557A>G (p.Asn186Ser) c.509A>G (p.Asn170Ser) c.668A>G (p.Asn223Ser) c.610A>G c.665A>G (p.Asn222Ser) c.428-1519A>G (n.428-1519A>G) c.875A>G (p.Asn292Ser) c.872A>G (p.Asn291Ser) c.635-1519A>G (n.635-1519A>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.161544718T>G | CA343367351 | FCGR3A | c.560A>C (p.Asn187Thr) c.557A>C (p.Asn186Thr) c.509A>C (p.Asn170Thr) c.668A>C (p.Asn223Thr) c.610A>C c.665A>C (p.Asn222Thr) c.428-1519A>C (n.428-1519A>C) c.875A>C (p.Asn292Thr) c.872A>C (p.Asn291Thr) c.635-1519A>C (n.635-1519A>C) | |
| 1 | g.161544718T= | CA1202785212 | FCGR3A | c.560A= (p.Asn187=) c.557A= (p.Asn186=) c.509A= (p.Asn170=) c.668A= (p.Asn223=) c.610A= c.665A= (p.Asn222=) c.428-1519A= (n.428-1519A=) c.875A= (p.Asn292=) c.872A= (p.Asn291=) c.635-1519A= (n.635-1519A=) | |
| 1 | g.161544718_161544723del | CA2648790072 | FCGR3A | c.555_560del (p.Val186_Asn187del) c.552_557del (p.Val185_Asn186del) c.504_509del (p.Val169_Asn170del) c.663_668del (p.Val222_Asn223del) c.605_610del c.660_665del (p.Val221_Asn222del) c.428-1524_428-1519del (n.428-1524_428-1519del) c.870_875del (p.Val291_Asn292del) c.867_872del (p.Val290_Asn291del) c.635-1524_635-1519del (n.635-1524_635-1519del) | gnomAD v4 |
| 1 | g.161544719T>A | CA343367352 | FCGR3A | c.559A>T (p.Asn187Tyr) c.556A>T (p.Asn186Tyr) c.508A>T (p.Asn170Tyr) c.667A>T (p.Asn223Tyr) c.609A>T c.664A>T (p.Asn222Tyr) c.428-1520A>T (n.428-1520A>T) c.874A>T (p.Asn292Tyr) c.871A>T (p.Asn291Tyr) c.635-1520A>T (n.635-1520A>T) | |
| 1 | g.161544719T>C | CA343367353 | FCGR3A | c.559A>G (p.Asn187Asp) c.556A>G (p.Asn186Asp) c.508A>G (p.Asn170Asp) c.667A>G (p.Asn223Asp) c.609A>G c.664A>G (p.Asn222Asp) c.428-1520A>G (n.428-1520A>G) c.874A>G (p.Asn292Asp) c.871A>G (p.Asn291Asp) c.635-1520A>G (n.635-1520A>G) | gnomAD v4 |
| 1 | g.161544719T>G | CA343367354 | FCGR3A | c.559A>C (p.Asn187His) c.556A>C (p.Asn186His) c.508A>C (p.Asn170His) c.667A>C (p.Asn223His) c.609A>C c.664A>C (p.Asn222His) c.428-1520A>C (n.428-1520A>C) c.874A>C (p.Asn292His) c.871A>C (p.Asn291His) c.635-1520A>C (n.635-1520A>C) | |
| 1 | g.161544719_161544721delinsTCA | CA1202785213 | FCGR3A | c.557_559delinsTGA (p.Val186=) c.554_556delinsTGA (p.Val185=) c.506_508delinsTGA (p.Val169=) c.665_667delinsTGA (p.Val222=) c.607_609delinsTGA c.662_664delinsTGA (p.Val221=) c.428-1522_428-1520delinsTGA (n.428-1522_428-1520delinsTGA) c.872_874delinsTGA (p.Val291=) c.869_871delinsTGA (p.Val290=) c.635-1522_635-1520delinsTGA (n.635-1522_635-1520delinsTGA) | |
| 1 | g.161544720C>A | CA421612364 | FCGR3A | c.558G>T (p.Val186=) c.555G>T (p.Val185=) c.507G>T (p.Val169=) c.666G>T (p.Val222=) c.608G>T c.663G>T (p.Val221=) c.428-1521G>T (n.428-1521G>T) c.873G>T (p.Val291=) c.870G>T (p.Val290=) c.635-1521G>T (n.635-1521G>T) | gnomAD v4 |
| 1 | g.161544720C>G | CA421612369 | FCGR3A | c.558G>C (p.Val186=) c.555G>C (p.Val185=) c.507G>C (p.Val169=) c.666G>C (p.Val222=) c.608G>C c.663G>C (p.Val221=) c.428-1521G>C (n.428-1521G>C) c.873G>C (p.Val291=) c.870G>C (p.Val290=) c.635-1521G>C (n.635-1521G>C) | |
| 1 | g.161544720C>T | CA421612361 | FCGR3A | c.558G>A (p.Val186=) c.555G>A (p.Val185=) c.507G>A (p.Val169=) c.666G>A (p.Val222=) c.608G>A c.663G>A (p.Val221=) c.428-1521G>A (n.428-1521G>A) c.873G>A (p.Val291=) c.870G>A (p.Val290=) c.635-1521G>A (n.635-1521G>A) | |
| 1 | g.161544722_161544723del | CA527135441 | FCGR3A | c.557_558del (p.Val186GlufsTer?) c.554_555del (p.Val185GlufsTer?) c.557_558del (p.Val186GlufsTer8) c.506_507del (p.Val169GlufsTer?) c.665_666del (p.Val222GlufsTer?) c.607_608del c.662_663del (p.Val221GlufsTer?) c.428-1522_428-1521del (n.428-1522_428-1521del) c.872_873del (p.Val291GlufsTer?) c.869_870del (p.Val290GlufsTer?) c.635-1522_635-1521del (n.635-1522_635-1521del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.161544721A>C | CA343367355 | FCGR3A | c.557T>G (p.Val186Gly) c.554T>G (p.Val185Gly) c.506T>G (p.Val169Gly) c.665T>G (p.Val222Gly) c.607T>G c.662T>G (p.Val221Gly) c.428-1522T>G (n.428-1522T>G) c.872T>G (p.Val291Gly) c.869T>G (p.Val290Gly) c.635-1522T>G (n.635-1522T>G) | |
| 1 | g.161544721A>G | CA343367356 | FCGR3A | c.557T>C (p.Val186Ala) c.554T>C (p.Val185Ala) c.506T>C (p.Val169Ala) c.665T>C (p.Val222Ala) c.607T>C c.662T>C (p.Val221Ala) c.428-1522T>C (n.428-1522T>C) c.872T>C (p.Val291Ala) c.869T>C (p.Val290Ala) c.635-1522T>C (n.635-1522T>C) | |
| 1 | g.161544721A>T | CA343367357 | FCGR3A | c.557T>A (p.Val186Glu) c.554T>A (p.Val185Glu) c.506T>A (p.Val169Glu) c.665T>A (p.Val222Glu) c.607T>A c.662T>A (p.Val221Glu) c.428-1522T>A (n.428-1522T>A) c.872T>A (p.Val291Glu) c.869T>A (p.Val290Glu) c.635-1522T>A (n.635-1522T>A) | |
| 1 | g.161544722C>A | CA343367358 | FCGR3A | c.556G>T (p.Val186Leu) c.553G>T (p.Val185Leu) c.505G>T (p.Val169Leu) c.664G>T (p.Val222Leu) c.606G>T c.661G>T (p.Val221Leu) c.428-1523G>T (n.428-1523G>T) c.871G>T (p.Val291Leu) c.868G>T (p.Val290Leu) c.635-1523G>T (n.635-1523G>T) | |
| 1 | g.161544722C= | CA1202785214 | FCGR3A | c.556G= (p.Val186=) c.553G= (p.Val185=) c.505G= (p.Val169=) c.664G= (p.Val222=) c.606G= c.661G= (p.Val221=) c.428-1523G= (n.428-1523G=) c.871G= (p.Val291=) c.868G= (p.Val290=) c.635-1523G= (n.635-1523G=) | |
| 1 | g.161544722C>G | CA343367359 | FCGR3A | c.556G>C (p.Val186Leu) c.553G>C (p.Val185Leu) c.505G>C (p.Val169Leu) c.664G>C (p.Val222Leu) c.606G>C c.661G>C (p.Val221Leu) c.428-1523G>C (n.428-1523G>C) c.871G>C (p.Val291Leu) c.868G>C (p.Val290Leu) c.635-1523G>C (n.635-1523G>C) | gnomAD v4 |
| 1 | g.161544722C>T | CA343367360 | FCGR3A | c.556G>A (p.Val186Met) c.553G>A (p.Val185Met) c.505G>A (p.Val169Met) c.664G>A (p.Val222Met) c.606G>A c.661G>A (p.Val221Met) c.428-1523G>A (n.428-1523G>A) c.871G>A (p.Val291Met) c.868G>A (p.Val290Met) c.635-1523G>A (n.635-1523G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.161544723A= | CA1202785215 | FCGR3A | c.555T= (p.Thr185=) c.552T= (p.Thr184=) c.504T= (p.Thr168=) c.663T= (p.Thr221=) c.605T= c.660T= (p.Thr220=) c.428-1524T= (n.428-1524T=) c.870T= (p.Thr290=) c.867T= (p.Thr289=) c.635-1524T= (n.635-1524T=) | |
| 1 | g.161544723A>C | CA421612375 | FCGR3A | c.555T>G (p.Thr185=) c.552T>G (p.Thr184=) c.504T>G (p.Thr168=) c.663T>G (p.Thr221=) c.605T>G c.660T>G (p.Thr220=) c.428-1524T>G (n.428-1524T>G) c.870T>G (p.Thr290=) c.867T>G (p.Thr289=) c.635-1524T>G (n.635-1524T>G) | gnomAD v4 |
| 1 | g.161544723A>G | CA1211375 | FCGR3A | c.555T>C (p.Thr185=) c.552T>C (p.Thr184=) c.504T>C (p.Thr168=) c.663T>C (p.Thr221=) c.605T>C c.660T>C (p.Thr220=) c.428-1524T>C (n.428-1524T>C) c.870T>C (p.Thr290=) c.867T>C (p.Thr289=) c.635-1524T>C (n.635-1524T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161544723A>T | CA421612373 | FCGR3A | c.555T>A (p.Thr185=) c.552T>A (p.Thr184=) c.504T>A (p.Thr168=) c.663T>A (p.Thr221=) c.605T>A c.660T>A (p.Thr220=) c.428-1524T>A (n.428-1524T>A) c.870T>A (p.Thr290=) c.867T>A (p.Thr289=) c.635-1524T>A (n.635-1524T>A) |