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.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47449252del | CA645613077 | ZNF41 | c.523del (p.Ile175Ter) c.265del (p.Ile89Ter) c.625del (p.Ile209Ter) c.553del (p.Ile185Ter) c.529del (p.Ile177Ter) c.649del (p.Ile217Ter) c.421del (p.Ile141Ter) c.415del (p.Ile139Ter) | COSMIC COSMIC |
| X | g.47449252_47449262del | CA2693577214 | ZNF41 | c.513_523del (p.Ile172AsnfsTer12) c.255_265del (p.Ile86AsnfsTer12) c.615_625del (p.Ile206AsnfsTer12) c.543_553del (p.Ile182AsnfsTer12) c.519_529del (p.Ile174AsnfsTer12) c.639_649del (p.Ile214AsnfsTer12) c.411_421del (p.Ile138AsnfsTer12) c.405_415del (p.Ile136AsnfsTer12) | gnomAD v4 |
| X | g.47449250T>A | CA413057885 | ZNF41 | c.520A>T (p.Lys174Ter) c.262A>T (p.Lys88Ter) c.622A>T (p.Lys208Ter) c.550A>T (p.Lys184Ter) c.526A>T (p.Lys176Ter) c.646A>T (p.Lys216Ter) c.418A>T (p.Lys140Ter) c.412A>T (p.Lys138Ter) | |
| X | g.47449250T>C | CA413057886 | ZNF41 | c.520A>G (p.Lys174Glu) c.262A>G (p.Lys88Glu) c.622A>G (p.Lys208Glu) c.550A>G (p.Lys184Glu) c.526A>G (p.Lys176Glu) c.646A>G (p.Lys216Glu) c.418A>G (p.Lys140Glu) c.412A>G (p.Lys138Glu) | |
| X | g.47449250T>G | CA413057887 | ZNF41 | c.520A>C (p.Lys174Gln) c.262A>C (p.Lys88Gln) c.622A>C (p.Lys208Gln) c.550A>C (p.Lys184Gln) c.526A>C (p.Lys176Gln) c.646A>C (p.Lys216Gln) c.418A>C (p.Lys140Gln) c.412A>C (p.Lys138Gln) | |
| X | g.47449251T>A | CA413057888 | ZNF41 | c.519A>T (p.Glu173Asp) c.261A>T (p.Glu87Asp) c.621A>T (p.Glu207Asp) c.549A>T (p.Glu183Asp) c.525A>T (p.Glu175Asp) c.645A>T (p.Glu215Asp) c.417A>T (p.Glu139Asp) c.411A>T (p.Glu137Asp) | |
| X | g.47449251T>C | CA516373124 | ZNF41 | c.519A>G (p.Glu173=) c.261A>G (p.Glu87=) c.621A>G (p.Glu207=) c.549A>G (p.Glu183=) c.525A>G (p.Glu175=) c.645A>G (p.Glu215=) c.417A>G (p.Glu139=) c.411A>G (p.Glu137=) | |
| X | g.47449251T>G | CA413057889 | ZNF41 | c.519A>C (p.Glu173Asp) c.261A>C (p.Glu87Asp) c.621A>C (p.Glu207Asp) c.549A>C (p.Glu183Asp) c.525A>C (p.Glu175Asp) c.645A>C (p.Glu215Asp) c.417A>C (p.Glu139Asp) c.411A>C (p.Glu137Asp) | |
| X | g.47449252T>A | CA413057890 | ZNF41 | c.518A>T (p.Glu173Val) c.260A>T (p.Glu87Val) c.620A>T (p.Glu207Val) c.548A>T (p.Glu183Val) c.524A>T (p.Glu175Val) c.644A>T (p.Glu215Val) c.416A>T (p.Glu139Val) c.410A>T (p.Glu137Val) | |
| X | g.47449252T>C | CA413057891 | ZNF41 | c.518A>G (p.Glu173Gly) c.260A>G (p.Glu87Gly) c.620A>G (p.Glu207Gly) c.548A>G (p.Glu183Gly) c.524A>G (p.Glu175Gly) c.644A>G (p.Glu215Gly) c.416A>G (p.Glu139Gly) c.410A>G (p.Glu137Gly) | |
| X | g.47449252T>G | CA413057892 | ZNF41 | c.518A>C (p.Glu173Ala) c.260A>C (p.Glu87Ala) c.620A>C (p.Glu207Ala) c.548A>C (p.Glu183Ala) c.524A>C (p.Glu175Ala) c.644A>C (p.Glu215Ala) c.416A>C (p.Glu139Ala) c.410A>C (p.Glu137Ala) | |
| X | g.47449253C>A | CA413057893 | ZNF41 | c.517G>T (p.Glu173Ter) c.259G>T (p.Glu87Ter) c.619G>T (p.Glu207Ter) c.547G>T (p.Glu183Ter) c.523G>T (p.Glu175Ter) c.643G>T (p.Glu215Ter) c.415G>T (p.Glu139Ter) c.409G>T (p.Glu137Ter) | |
| X | g.47449253C>G | CA413057894 | ZNF41 | c.517G>C (p.Glu173Gln) c.259G>C (p.Glu87Gln) c.619G>C (p.Glu207Gln) c.547G>C (p.Glu183Gln) c.523G>C (p.Glu175Gln) c.643G>C (p.Glu215Gln) c.415G>C (p.Glu139Gln) c.409G>C (p.Glu137Gln) | |
| X | g.47449253C>T | CA413057895 | ZNF41 | c.517G>A (p.Glu173Lys) c.259G>A (p.Glu87Lys) c.619G>A (p.Glu207Lys) c.547G>A (p.Glu183Lys) c.523G>A (p.Glu175Lys) c.643G>A (p.Glu215Lys) c.415G>A (p.Glu139Lys) c.409G>A (p.Glu137Lys) | |
| X | g.47449254A>C | CA413057896 | ZNF41 | c.516T>G (p.Ile172Met) c.258T>G (p.Ile86Met) c.618T>G (p.Ile206Met) c.546T>G (p.Ile182Met) c.522T>G (p.Ile174Met) c.642T>G (p.Ile214Met) c.414T>G (p.Ile138Met) c.408T>G (p.Ile136Met) | |
| X | g.47449254A>G | CA516373125 | ZNF41 | c.516T>C (p.Ile172=) c.258T>C (p.Ile86=) c.618T>C (p.Ile206=) c.546T>C (p.Ile182=) c.522T>C (p.Ile174=) c.642T>C (p.Ile214=) c.414T>C (p.Ile138=) c.408T>C (p.Ile136=) | gnomAD v4 |
| X | g.47449254A>T | CA516373126 | ZNF41 | c.516T>A (p.Ile172=) c.258T>A (p.Ile86=) c.618T>A (p.Ile206=) c.546T>A (p.Ile182=) c.522T>A (p.Ile174=) c.642T>A (p.Ile214=) c.414T>A (p.Ile138=) c.408T>A (p.Ile136=) | |
| X | g.47449255A= | CA2427930855 | ZNF41 | c.515T= (p.Ile172=) c.257T= (p.Ile86=) c.617T= (p.Ile206=) c.545T= (p.Ile182=) c.521T= (p.Ile174=) c.641T= (p.Ile214=) c.413T= (p.Ile138=) c.407T= (p.Ile136=) | |
| X | g.47449255A>C | CA413057899 | ZNF41 | c.515T>G (p.Ile172Ser) c.257T>G (p.Ile86Ser) c.617T>G (p.Ile206Ser) c.545T>G (p.Ile182Ser) c.521T>G (p.Ile174Ser) c.641T>G (p.Ile214Ser) c.413T>G (p.Ile138Ser) c.407T>G (p.Ile136Ser) | |
| X | g.47449255A>G | CA413057898 | ZNF41 | c.515T>C (p.Ile172Thr) c.257T>C (p.Ile86Thr) c.617T>C (p.Ile206Thr) c.545T>C (p.Ile182Thr) c.521T>C (p.Ile174Thr) c.641T>C (p.Ile214Thr) c.413T>C (p.Ile138Thr) c.407T>C (p.Ile136Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47449255A>T | CA413057897 | ZNF41 | c.515T>A (p.Ile172Asn) c.257T>A (p.Ile86Asn) c.617T>A (p.Ile206Asn) c.545T>A (p.Ile182Asn) c.521T>A (p.Ile174Asn) c.641T>A (p.Ile214Asn) c.413T>A (p.Ile138Asn) c.407T>A (p.Ile136Asn) | dbSNP |
| X | g.47449256T>A | CA413057900 | ZNF41 | c.514A>T (p.Ile172Phe) c.256A>T (p.Ile86Phe) c.616A>T (p.Ile206Phe) c.544A>T (p.Ile182Phe) c.520A>T (p.Ile174Phe) c.640A>T (p.Ile214Phe) c.412A>T (p.Ile138Phe) c.406A>T (p.Ile136Phe) | |
| X | g.47449256T>C | CA413057901 | ZNF41 | c.514A>G (p.Ile172Val) c.256A>G (p.Ile86Val) c.616A>G (p.Ile206Val) c.544A>G (p.Ile182Val) c.520A>G (p.Ile174Val) c.640A>G (p.Ile214Val) c.412A>G (p.Ile138Val) c.406A>G (p.Ile136Val) | dbSNP |
| X | g.47449256T>G | CA413057902 | ZNF41 | c.514A>C (p.Ile172Leu) c.256A>C (p.Ile86Leu) c.616A>C (p.Ile206Leu) c.544A>C (p.Ile182Leu) c.520A>C (p.Ile174Leu) c.640A>C (p.Ile214Leu) c.412A>C (p.Ile138Leu) c.406A>C (p.Ile136Leu) | |
| X | g.47449256T= | CA2427930856 | ZNF41 | c.514A= (p.Ile172=) c.256A= (p.Ile86=) c.616A= (p.Ile206=) c.544A= (p.Ile182=) c.520A= (p.Ile174=) c.640A= (p.Ile214=) c.412A= (p.Ile138=) c.406A= (p.Ile136=) | |
| X | g.47449257G>A | CA516373127 | ZNF41 | c.513C>T (p.Asn171=) c.255C>T (p.Asn85=) c.615C>T (p.Asn205=) c.543C>T (p.Asn181=) c.519C>T (p.Asn173=) c.639C>T (p.Asn213=) c.411C>T (p.Asn137=) c.405C>T (p.Asn135=) | gnomAD v4 |
| X | g.47449257G>C | CA413057903 | ZNF41 | c.513C>G (p.Asn171Lys) c.255C>G (p.Asn85Lys) c.615C>G (p.Asn205Lys) c.543C>G (p.Asn181Lys) c.519C>G (p.Asn173Lys) c.639C>G (p.Asn213Lys) c.411C>G (p.Asn137Lys) c.405C>G (p.Asn135Lys) | gnomAD v4 |
| X | g.47449257G>T | CA413057904 | ZNF41 | c.513C>A (p.Asn171Lys) c.255C>A (p.Asn85Lys) c.615C>A (p.Asn205Lys) c.543C>A (p.Asn181Lys) c.519C>A (p.Asn173Lys) c.639C>A (p.Asn213Lys) c.411C>A (p.Asn137Lys) c.405C>A (p.Asn135Lys) | |
| X | g.47449258T>A | CA413057905 | ZNF41 | c.512A>T (p.Asn171Ile) c.254A>T (p.Asn85Ile) c.614A>T (p.Asn205Ile) c.542A>T (p.Asn181Ile) c.518A>T (p.Asn173Ile) c.638A>T (p.Asn213Ile) c.410A>T (p.Asn137Ile) c.404A>T (p.Asn135Ile) | |
| X | g.47449258T>C | CA413057906 | ZNF41 | c.512A>G (p.Asn171Ser) c.254A>G (p.Asn85Ser) c.614A>G (p.Asn205Ser) c.542A>G (p.Asn181Ser) c.518A>G (p.Asn173Ser) c.638A>G (p.Asn213Ser) c.410A>G (p.Asn137Ser) c.404A>G (p.Asn135Ser) | |
| X | g.47449258T>G | CA413057907 | ZNF41 | c.512A>C (p.Asn171Thr) c.254A>C (p.Asn85Thr) c.614A>C (p.Asn205Thr) c.542A>C (p.Asn181Thr) c.518A>C (p.Asn173Thr) c.638A>C (p.Asn213Thr) c.410A>C (p.Asn137Thr) c.404A>C (p.Asn135Thr) | |
| X | g.47449259T>A | CA413057908 | ZNF41 | c.511A>T (p.Asn171Tyr) c.253A>T (p.Asn85Tyr) c.613A>T (p.Asn205Tyr) c.541A>T (p.Asn181Tyr) c.517A>T (p.Asn173Tyr) c.637A>T (p.Asn213Tyr) c.409A>T (p.Asn137Tyr) c.403A>T (p.Asn135Tyr) | |
| X | g.47449259T>C | CA413057909 | ZNF41 | c.511A>G (p.Asn171Asp) c.253A>G (p.Asn85Asp) c.613A>G (p.Asn205Asp) c.541A>G (p.Asn181Asp) c.517A>G (p.Asn173Asp) c.637A>G (p.Asn213Asp) c.409A>G (p.Asn137Asp) c.403A>G (p.Asn135Asp) | |
| X | g.47449259T>G | CA413057910 | ZNF41 | c.511A>C (p.Asn171His) c.253A>C (p.Asn85His) c.613A>C (p.Asn205His) c.541A>C (p.Asn181His) c.517A>C (p.Asn173His) c.637A>C (p.Asn213His) c.409A>C (p.Asn137His) c.403A>C (p.Asn135His) | |
| X | g.47449260T>A | CA413057911 | ZNF41 | c.510A>T (p.Lys170Asn) c.252A>T (p.Lys84Asn) c.612A>T (p.Lys204Asn) c.540A>T (p.Lys180Asn) c.516A>T (p.Lys172Asn) c.636A>T (p.Lys212Asn) c.408A>T (p.Lys136Asn) c.402A>T (p.Lys134Asn) | |
| X | g.47449260T>C | CA516373129 | ZNF41 | c.510A>G (p.Lys170=) c.252A>G (p.Lys84=) c.612A>G (p.Lys204=) c.540A>G (p.Lys180=) c.516A>G (p.Lys172=) c.636A>G (p.Lys212=) c.408A>G (p.Lys136=) c.402A>G (p.Lys134=) | |
| X | g.47449260T>G | CA413057912 | ZNF41 | c.510A>C (p.Lys170Asn) c.252A>C (p.Lys84Asn) c.612A>C (p.Lys204Asn) c.540A>C (p.Lys180Asn) c.516A>C (p.Lys172Asn) c.636A>C (p.Lys212Asn) c.408A>C (p.Lys136Asn) c.402A>C (p.Lys134Asn) | |
| X | g.47449261T>A | CA413057914 | ZNF41 | c.509A>T (p.Lys170Ile) c.251A>T (p.Lys84Ile) c.611A>T (p.Lys204Ile) c.539A>T (p.Lys180Ile) c.515A>T (p.Lys172Ile) c.635A>T (p.Lys212Ile) c.407A>T (p.Lys136Ile) c.401A>T (p.Lys134Ile) | |
| X | g.47449261T>C | CA413057915 | ZNF41 | c.509A>G (p.Lys170Arg) c.251A>G (p.Lys84Arg) c.611A>G (p.Lys204Arg) c.539A>G (p.Lys180Arg) c.515A>G (p.Lys172Arg) c.635A>G (p.Lys212Arg) c.407A>G (p.Lys136Arg) c.401A>G (p.Lys134Arg) | |
| X | g.47449261T>G | CA413057913 | ZNF41 | c.509A>C (p.Lys170Thr) c.251A>C (p.Lys84Thr) c.611A>C (p.Lys204Thr) c.539A>C (p.Lys180Thr) c.515A>C (p.Lys172Thr) c.635A>C (p.Lys212Thr) c.407A>C (p.Lys136Thr) c.401A>C (p.Lys134Thr) | |
| X | g.47449262T>A | CA413057916 | ZNF41 | c.508A>T (p.Lys170Ter) c.250A>T (p.Lys84Ter) c.610A>T (p.Lys204Ter) c.538A>T (p.Lys180Ter) c.514A>T (p.Lys172Ter) c.634A>T (p.Lys212Ter) c.406A>T (p.Lys136Ter) c.400A>T (p.Lys134Ter) | |
| X | g.47449262T>C | CA413057918 | ZNF41 | c.508A>G (p.Lys170Glu) c.250A>G (p.Lys84Glu) c.610A>G (p.Lys204Glu) c.538A>G (p.Lys180Glu) c.514A>G (p.Lys172Glu) c.634A>G (p.Lys212Glu) c.406A>G (p.Lys136Glu) c.400A>G (p.Lys134Glu) | gnomAD v4 |
| X | g.47449262T>G | CA413057917 | ZNF41 | c.508A>C (p.Lys170Gln) c.250A>C (p.Lys84Gln) c.610A>C (p.Lys204Gln) c.538A>C (p.Lys180Gln) c.514A>C (p.Lys172Gln) c.634A>C (p.Lys212Gln) c.406A>C (p.Lys136Gln) c.400A>C (p.Lys134Gln) | |
| X | g.47449263A>C | CA413057919 | ZNF41 | c.507T>G (p.His169Gln) c.249T>G (p.His83Gln) c.609T>G (p.His203Gln) c.537T>G (p.His179Gln) c.513T>G (p.His171Gln) c.633T>G (p.His211Gln) c.405T>G (p.His135Gln) c.399T>G (p.His133Gln) | |
| X | g.47449263A>G | CA516373133 | ZNF41 | c.507T>C (p.His169=) c.249T>C (p.His83=) c.609T>C (p.His203=) c.537T>C (p.His179=) c.513T>C (p.His171=) c.633T>C (p.His211=) c.405T>C (p.His135=) c.399T>C (p.His133=) | |
| X | g.47449263A>T | CA413057920 | ZNF41 | c.507T>A (p.His169Gln) c.249T>A (p.His83Gln) c.609T>A (p.His203Gln) c.537T>A (p.His179Gln) c.513T>A (p.His171Gln) c.633T>A (p.His211Gln) c.405T>A (p.His135Gln) c.399T>A (p.His133Gln) | |
| X | g.47449264T>A | CA329720542 | ZNF41 | c.506A>T (p.His169Leu) c.536A>T n.659A>T c.248A>T (p.His83Leu) c.608A>T (p.His203Leu) c.536A>T (p.His179Leu) c.512A>T (p.His171Leu) c.632A>T (p.His211Leu) c.404A>T (p.His135Leu) c.398A>T (p.His133Leu) | dbSNP |
| X | g.47449264T>C | CA10397790 | ZNF41 | c.506A>G (p.His169Arg) c.536A>G n.659A>G c.248A>G (p.His83Arg) c.608A>G (p.His203Arg) c.536A>G (p.His179Arg) c.512A>G (p.His171Arg) c.632A>G (p.His211Arg) c.404A>G (p.His135Arg) c.398A>G (p.His133Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47449264T>G | CA413057921 | ZNF41 | c.506A>C (p.His169Pro) c.536A>C n.659A>C c.248A>C (p.His83Pro) c.608A>C (p.His203Pro) c.536A>C (p.His179Pro) c.512A>C (p.His171Pro) c.632A>C (p.His211Pro) c.404A>C (p.His135Pro) c.398A>C (p.His133Pro) | |
| X | g.47449264T= | CA2427930857 | ZNF41 | c.506A= (p.His169=) c.536A= n.659A= c.248A= (p.His83=) c.608A= (p.His203=) c.536A= (p.His179=) c.512A= (p.His171=) c.632A= (p.His211=) c.404A= (p.His135=) c.398A= (p.His133=) |