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.47449242A>C | CA413057867 | ZNF41 | c.528T>G (p.Ile176Met) c.270T>G (p.Ile90Met) c.630T>G (p.Ile210Met) c.558T>G (p.Ile186Met) c.534T>G (p.Ile178Met) c.654T>G (p.Ile218Met) c.426T>G (p.Ile142Met) c.420T>G (p.Ile140Met) | |
| X | g.47449242A>G | CA516373115 | ZNF41 | c.528T>C (p.Ile176=) c.270T>C (p.Ile90=) c.630T>C (p.Ile210=) c.558T>C (p.Ile186=) c.534T>C (p.Ile178=) c.654T>C (p.Ile218=) c.426T>C (p.Ile142=) c.420T>C (p.Ile140=) | |
| X | g.47449242A>T | CA516373113 | ZNF41 | c.528T>A (p.Ile176=) c.270T>A (p.Ile90=) c.630T>A (p.Ile210=) c.558T>A (p.Ile186=) c.534T>A (p.Ile178=) c.654T>A (p.Ile218=) c.426T>A (p.Ile142=) c.420T>A (p.Ile140=) | |
| X | g.47449243A>C | CA413057868 | ZNF41 | c.527T>G (p.Ile176Ser) c.269T>G (p.Ile90Ser) c.629T>G (p.Ile210Ser) c.557T>G (p.Ile186Ser) c.533T>G (p.Ile178Ser) c.653T>G (p.Ile218Ser) c.425T>G (p.Ile142Ser) c.419T>G (p.Ile140Ser) | |
| X | g.47449243A>G | CA413057870 | ZNF41 | c.527T>C (p.Ile176Thr) c.269T>C (p.Ile90Thr) c.629T>C (p.Ile210Thr) c.557T>C (p.Ile186Thr) c.533T>C (p.Ile178Thr) c.653T>C (p.Ile218Thr) c.425T>C (p.Ile142Thr) c.419T>C (p.Ile140Thr) | |
| X | g.47449243A>T | CA413057869 | ZNF41 | c.527T>A (p.Ile176Asn) c.269T>A (p.Ile90Asn) c.629T>A (p.Ile210Asn) c.557T>A (p.Ile186Asn) c.533T>A (p.Ile178Asn) c.653T>A (p.Ile218Asn) c.425T>A (p.Ile142Asn) c.419T>A (p.Ile140Asn) | |
| X | g.47449244T>A | CA413057871 | ZNF41 | c.526A>T (p.Ile176Phe) c.268A>T (p.Ile90Phe) c.628A>T (p.Ile210Phe) c.556A>T (p.Ile186Phe) c.532A>T (p.Ile178Phe) c.652A>T (p.Ile218Phe) c.424A>T (p.Ile142Phe) c.418A>T (p.Ile140Phe) | |
| X | g.47449244T>C | CA413057872 | ZNF41 | c.526A>G (p.Ile176Val) c.268A>G (p.Ile90Val) c.628A>G (p.Ile210Val) c.556A>G (p.Ile186Val) c.532A>G (p.Ile178Val) c.652A>G (p.Ile218Val) c.424A>G (p.Ile142Val) c.418A>G (p.Ile140Val) | |
| X | g.47449244T>G | CA413057873 | ZNF41 | c.526A>C (p.Ile176Leu) c.268A>C (p.Ile90Leu) c.628A>C (p.Ile210Leu) c.556A>C (p.Ile186Leu) c.532A>C (p.Ile178Leu) c.652A>C (p.Ile218Leu) c.424A>C (p.Ile142Leu) c.418A>C (p.Ile140Leu) | |
| X | g.47449245T>A | CA516373119 | ZNF41 | c.525A>T (p.Ile175=) c.267A>T (p.Ile89=) c.627A>T (p.Ile209=) c.555A>T (p.Ile185=) c.531A>T (p.Ile177=) c.651A>T (p.Ile217=) c.423A>T (p.Ile141=) c.417A>T (p.Ile139=) | |
| X | g.47449245T>C | CA413057874 | ZNF41 | c.525A>G (p.Ile175Met) c.267A>G (p.Ile89Met) c.627A>G (p.Ile209Met) c.555A>G (p.Ile185Met) c.531A>G (p.Ile177Met) c.651A>G (p.Ile217Met) c.423A>G (p.Ile141Met) c.417A>G (p.Ile139Met) | |
| X | g.47449245T>G | CA516373120 | ZNF41 | c.525A>C (p.Ile175=) c.267A>C (p.Ile89=) c.627A>C (p.Ile209=) c.555A>C (p.Ile185=) c.531A>C (p.Ile177=) c.651A>C (p.Ile217=) c.423A>C (p.Ile141=) c.417A>C (p.Ile139=) | |
| X | g.47449246A= | CA2427930853 | ZNF41 | c.524T= (p.Ile175=) c.266T= (p.Ile89=) c.626T= (p.Ile209=) c.554T= (p.Ile185=) c.530T= (p.Ile177=) c.650T= (p.Ile217=) c.422T= (p.Ile141=) c.416T= (p.Ile139=) | |
| X | g.47449246A>C | CA413057875 | ZNF41 | c.524T>G (p.Ile175Arg) c.266T>G (p.Ile89Arg) c.626T>G (p.Ile209Arg) c.554T>G (p.Ile185Arg) c.530T>G (p.Ile177Arg) c.650T>G (p.Ile217Arg) c.422T>G (p.Ile141Arg) c.416T>G (p.Ile139Arg) | |
| X | g.47449246A>G | CA413057876 | ZNF41 | c.524T>C (p.Ile175Thr) c.266T>C (p.Ile89Thr) c.626T>C (p.Ile209Thr) c.554T>C (p.Ile185Thr) c.530T>C (p.Ile177Thr) c.650T>C (p.Ile217Thr) c.422T>C (p.Ile141Thr) c.416T>C (p.Ile139Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47449246A>T | CA413057877 | ZNF41 | c.524T>A (p.Ile175Lys) c.266T>A (p.Ile89Lys) c.626T>A (p.Ile209Lys) c.554T>A (p.Ile185Lys) c.530T>A (p.Ile177Lys) c.650T>A (p.Ile217Lys) c.422T>A (p.Ile141Lys) c.416T>A (p.Ile139Lys) | |
| X | g.47449247T>A | CA413057878 | ZNF41 | c.523A>T (p.Ile175Leu) c.265A>T (p.Ile89Leu) c.625A>T (p.Ile209Leu) c.553A>T (p.Ile185Leu) c.529A>T (p.Ile177Leu) c.649A>T (p.Ile217Leu) c.421A>T (p.Ile141Leu) c.415A>T (p.Ile139Leu) | |
| X | g.47449247T>C | CA413057879 | ZNF41 | c.523A>G (p.Ile175Val) c.265A>G (p.Ile89Val) c.625A>G (p.Ile209Val) c.553A>G (p.Ile185Val) c.529A>G (p.Ile177Val) c.649A>G (p.Ile217Val) c.421A>G (p.Ile141Val) c.415A>G (p.Ile139Val) | |
| X | g.47449247T>G | CA413057880 | ZNF41 | c.523A>C (p.Ile175Leu) c.265A>C (p.Ile89Leu) c.625A>C (p.Ile209Leu) c.553A>C (p.Ile185Leu) c.529A>C (p.Ile177Leu) c.649A>C (p.Ile217Leu) c.421A>C (p.Ile141Leu) c.415A>C (p.Ile139Leu) | |
| 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.47449248T>A | CA413057881 | ZNF41 | c.522A>T (p.Lys174Asn) c.264A>T (p.Lys88Asn) c.624A>T (p.Lys208Asn) c.552A>T (p.Lys184Asn) c.528A>T (p.Lys176Asn) c.648A>T (p.Lys216Asn) c.420A>T (p.Lys140Asn) c.414A>T (p.Lys138Asn) | |
| X | g.47449248T>C | CA516373122 | ZNF41 | c.522A>G (p.Lys174=) c.264A>G (p.Lys88=) c.624A>G (p.Lys208=) c.552A>G (p.Lys184=) c.528A>G (p.Lys176=) c.648A>G (p.Lys216=) c.420A>G (p.Lys140=) c.414A>G (p.Lys138=) | gnomAD v4 |
| X | g.47449248T>G | CA10397789 | ZNF41 | c.522A>C (p.Lys174Asn) c.264A>C (p.Lys88Asn) c.624A>C (p.Lys208Asn) c.552A>C (p.Lys184Asn) c.528A>C (p.Lys176Asn) c.648A>C (p.Lys216Asn) c.420A>C (p.Lys140Asn) c.414A>C (p.Lys138Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47449248T= | CA2427930854 | ZNF41 | c.522A= (p.Lys174=) c.264A= (p.Lys88=) c.624A= (p.Lys208=) c.552A= (p.Lys184=) c.528A= (p.Lys176=) c.648A= (p.Lys216=) c.420A= (p.Lys140=) c.414A= (p.Lys138=) | |
| X | g.47449249T>A | CA413057884 | ZNF41 | c.521A>T (p.Lys174Ile) c.263A>T (p.Lys88Ile) c.623A>T (p.Lys208Ile) c.551A>T (p.Lys184Ile) c.527A>T (p.Lys176Ile) c.647A>T (p.Lys216Ile) c.419A>T (p.Lys140Ile) c.413A>T (p.Lys138Ile) | |
| X | g.47449249T>C | CA413057882 | ZNF41 | c.521A>G (p.Lys174Arg) c.263A>G (p.Lys88Arg) c.623A>G (p.Lys208Arg) c.551A>G (p.Lys184Arg) c.527A>G (p.Lys176Arg) c.647A>G (p.Lys216Arg) c.419A>G (p.Lys140Arg) c.413A>G (p.Lys138Arg) | |
| X | g.47449249T>G | CA413057883 | ZNF41 | c.521A>C (p.Lys174Thr) c.263A>C (p.Lys88Thr) c.623A>C (p.Lys208Thr) c.551A>C (p.Lys184Thr) c.527A>C (p.Lys176Thr) c.647A>C (p.Lys216Thr) c.419A>C (p.Lys140Thr) c.413A>C (p.Lys138Thr) | |
| 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) |