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 |
|---|---|---|---|---|---|
| X | g.46501141C>A | CA413031147 | ZNF674 | c.433G>T (p.Glu145Ter) c.430G>T (p.Glu144Ter) c.448G>T (p.Glu150Ter) c.445G>T (p.Glu149Ter) c.340G>T (p.Glu114Ter) c.247G>T (p.Glu83Ter) c.244G>T (p.Glu82Ter) | |
| X | g.46501141C>G | CA413031148 | ZNF674 | c.433G>C (p.Glu145Gln) c.430G>C (p.Glu144Gln) c.448G>C (p.Glu150Gln) c.445G>C (p.Glu149Gln) c.340G>C (p.Glu114Gln) c.247G>C (p.Glu83Gln) c.244G>C (p.Glu82Gln) | |
| X | g.46501141C>T | CA413031149 | ZNF674 | c.433G>A (p.Glu145Lys) c.430G>A (p.Glu144Lys) c.448G>A (p.Glu150Lys) c.445G>A (p.Glu149Lys) c.340G>A (p.Glu114Lys) c.247G>A (p.Glu83Lys) c.244G>A (p.Glu82Lys) | |
| X | g.46501142C>A | CA413031150 | ZNF674 | c.432G>T (p.Trp144Cys) c.429G>T (p.Trp143Cys) c.447G>T (p.Trp149Cys) c.444G>T (p.Trp148Cys) c.339G>T (p.Trp113Cys) c.246G>T (p.Trp82Cys) c.243G>T (p.Trp81Cys) | |
| X | g.46501142C>G | CA413031151 | ZNF674 | c.432G>C (p.Trp144Cys) c.429G>C (p.Trp143Cys) c.447G>C (p.Trp149Cys) c.444G>C (p.Trp148Cys) c.339G>C (p.Trp113Cys) c.246G>C (p.Trp82Cys) c.243G>C (p.Trp81Cys) | |
| X | g.46501142C>T | CA413031152 | ZNF674 | c.432G>A (p.Trp144Ter) c.429G>A (p.Trp143Ter) c.447G>A (p.Trp149Ter) c.444G>A (p.Trp148Ter) c.339G>A (p.Trp113Ter) c.246G>A (p.Trp82Ter) c.243G>A (p.Trp81Ter) | |
| X | g.46501143C>A | CA413031153 | ZNF674 | c.431G>T (p.Trp144Leu) c.428G>T (p.Trp143Leu) c.446G>T (p.Trp149Leu) c.443G>T (p.Trp148Leu) c.338G>T (p.Trp113Leu) c.245G>T (p.Trp82Leu) c.242G>T (p.Trp81Leu) | |
| X | g.46501143C>G | CA413031154 | ZNF674 | c.431G>C (p.Trp144Ser) c.428G>C (p.Trp143Ser) c.446G>C (p.Trp149Ser) c.443G>C (p.Trp148Ser) c.338G>C (p.Trp113Ser) c.245G>C (p.Trp82Ser) c.242G>C (p.Trp81Ser) | |
| X | g.46501143C>T | CA413031155 | ZNF674 | c.431G>A (p.Trp144Ter) c.428G>A (p.Trp143Ter) c.446G>A (p.Trp149Ter) c.443G>A (p.Trp148Ter) c.338G>A (p.Trp113Ter) c.245G>A (p.Trp82Ter) c.242G>A (p.Trp81Ter) | |
| X | g.46501143_46501147delinsCATGA | CA2427618928 | ZNF674 | c.427_431delinsTCATG (p.Ser143=) c.424_428delinsTCATG (p.Ser142=) c.442_446delinsTCATG (p.Ser148=) c.439_443delinsTCATG (p.Ser147=) c.334_338delinsTCATG (p.Ser112=) c.241_245delinsTCATG (p.Ser81=) c.238_242delinsTCATG (p.Ser80=) | |
| X | g.46501144A= | CA2427618929 | ZNF674 | c.430T= (p.Trp144=) c.427T= (p.Trp143=) c.445T= (p.Trp149=) c.442T= (p.Trp148=) c.337T= (p.Trp113=) c.244T= (p.Trp82=) c.241T= (p.Trp81=) | |
| X | g.46501144A>C | CA413031158 | ZNF674 | c.430T>G (p.Trp144Gly) c.427T>G (p.Trp143Gly) c.445T>G (p.Trp149Gly) c.442T>G (p.Trp148Gly) c.337T>G (p.Trp113Gly) c.244T>G (p.Trp82Gly) c.241T>G (p.Trp81Gly) | |
| X | g.46501144A>G | CA413031157 | ZNF674 | c.430T>C (p.Trp144Arg) c.427T>C (p.Trp143Arg) c.445T>C (p.Trp149Arg) c.442T>C (p.Trp148Arg) c.337T>C (p.Trp113Arg) c.244T>C (p.Trp82Arg) c.241T>C (p.Trp81Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.46501144A>T | CA413031156 | ZNF674 | c.430T>A (p.Trp144Arg) c.427T>A (p.Trp143Arg) c.445T>A (p.Trp149Arg) c.442T>A (p.Trp148Arg) c.337T>A (p.Trp113Arg) c.244T>A (p.Trp82Arg) c.241T>A (p.Trp81Arg) | |
| X | g.46501146_46501149del | CA10393436 | ZNF674 | c.427_430del (p.Ser143GlyfsTer9) c.424_427del (p.Ser142GlyfsTer9) c.442_445del (p.Ser148GlyfsTer9) c.439_442del (p.Ser147GlyfsTer9) c.334_337del (p.Ser112GlyfsTer9) c.241_244del (p.Ser81GlyfsTer9) c.238_241del (p.Ser80GlyfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46501145T>A | CA516369076 | ZNF674 | c.429A>T (p.Ser143=) c.426A>T (p.Ser142=) c.444A>T (p.Ser148=) c.441A>T (p.Ser147=) c.336A>T (p.Ser112=) c.243A>T (p.Ser81=) c.240A>T (p.Ser80=) | |
| X | g.46501145T>C | CA516369078 | ZNF674 | c.429A>G (p.Ser143=) c.426A>G (p.Ser142=) c.444A>G (p.Ser148=) c.441A>G (p.Ser147=) c.336A>G (p.Ser112=) c.243A>G (p.Ser81=) c.240A>G (p.Ser80=) | gnomAD v4 |
| X | g.46501145T>G | CA516369079 | ZNF674 | c.429A>C (p.Ser143=) c.426A>C (p.Ser142=) c.444A>C (p.Ser148=) c.441A>C (p.Ser147=) c.336A>C (p.Ser112=) c.243A>C (p.Ser81=) c.240A>C (p.Ser80=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.46501145T= | CA2427618930 | ZNF674 | c.429A= (p.Ser143=) c.426A= (p.Ser142=) c.444A= (p.Ser148=) c.441A= (p.Ser147=) c.336A= (p.Ser112=) c.243A= (p.Ser81=) c.240A= (p.Ser80=) | |
| X | g.46501146G>A | CA413031159 | ZNF674 | c.428C>T (p.Ser143Leu) c.425C>T (p.Ser142Leu) c.443C>T (p.Ser148Leu) c.440C>T (p.Ser147Leu) c.335C>T (p.Ser112Leu) c.242C>T (p.Ser81Leu) c.239C>T (p.Ser80Leu) | |
| X | g.46501146G>C | CA413031160 | ZNF674 | c.428C>G (p.Ser143Ter) c.425C>G (p.Ser142Ter) c.443C>G (p.Ser148Ter) c.440C>G (p.Ser147Ter) c.335C>G (p.Ser112Ter) c.242C>G (p.Ser81Ter) c.239C>G (p.Ser80Ter) | |
| X | g.46501146G>T | CA413031161 | ZNF674 | c.428C>A (p.Ser143Ter) c.425C>A (p.Ser142Ter) c.443C>A (p.Ser148Ter) c.440C>A (p.Ser147Ter) c.335C>A (p.Ser112Ter) c.242C>A (p.Ser81Ter) c.239C>A (p.Ser80Ter) | |
| X | g.46501147A>C | CA413031162 | ZNF674 | c.427T>G (p.Ser143Ala) c.424T>G (p.Ser142Ala) c.442T>G (p.Ser148Ala) c.439T>G (p.Ser147Ala) c.334T>G (p.Ser112Ala) c.241T>G (p.Ser81Ala) c.238T>G (p.Ser80Ala) | |
| X | g.46501147A>G | CA413031163 | ZNF674 | c.427T>C (p.Ser143Pro) c.424T>C (p.Ser142Pro) c.442T>C (p.Ser148Pro) c.439T>C (p.Ser147Pro) c.334T>C (p.Ser112Pro) c.241T>C (p.Ser81Pro) c.238T>C (p.Ser80Pro) | |
| X | g.46501147A>T | CA413031164 | ZNF674 | c.427T>A (p.Ser143Thr) c.424T>A (p.Ser142Thr) c.442T>A (p.Ser148Thr) c.439T>A (p.Ser147Thr) c.334T>A (p.Ser112Thr) c.241T>A (p.Ser81Thr) c.238T>A (p.Ser80Thr) | |
| X | g.46501148A>C | CA413031165 | ZNF674 | c.426T>G (p.Tyr142Ter) c.423T>G (p.Tyr141Ter) c.441T>G (p.Tyr147Ter) c.438T>G (p.Tyr146Ter) c.333T>G (p.Tyr111Ter) c.240T>G (p.Tyr80Ter) c.237T>G (p.Tyr79Ter) | |
| X | g.46501148A>G | CA516369082 | ZNF674 | c.426T>C (p.Tyr142=) c.423T>C (p.Tyr141=) c.441T>C (p.Tyr147=) c.438T>C (p.Tyr146=) c.333T>C (p.Tyr111=) c.240T>C (p.Tyr80=) c.237T>C (p.Tyr79=) | |
| X | g.46501148A>T | CA413031166 | ZNF674 | c.426T>A (p.Tyr142Ter) c.423T>A (p.Tyr141Ter) c.441T>A (p.Tyr147Ter) c.438T>A (p.Tyr146Ter) c.333T>A (p.Tyr111Ter) c.240T>A (p.Tyr80Ter) c.237T>A (p.Tyr79Ter) | |
| X | g.46501149T>A | CA413031167 | ZNF674 | c.425A>T (p.Tyr142Phe) c.422A>T (p.Tyr141Phe) c.440A>T (p.Tyr147Phe) c.437A>T (p.Tyr146Phe) c.332A>T (p.Tyr111Phe) c.239A>T (p.Tyr80Phe) c.236A>T (p.Tyr79Phe) | |
| X | g.46501149T>C | CA413031168 | ZNF674 | c.425A>G (p.Tyr142Cys) c.422A>G (p.Tyr141Cys) c.440A>G (p.Tyr147Cys) c.437A>G (p.Tyr146Cys) c.332A>G (p.Tyr111Cys) c.239A>G (p.Tyr80Cys) c.236A>G (p.Tyr79Cys) | |
| X | g.46501149T>G | CA413031169 | ZNF674 | c.425A>C (p.Tyr142Ser) c.422A>C (p.Tyr141Ser) c.440A>C (p.Tyr147Ser) c.437A>C (p.Tyr146Ser) c.332A>C (p.Tyr111Ser) c.239A>C (p.Tyr80Ser) c.236A>C (p.Tyr79Ser) | |
| X | g.46501150A>C | CA413031172 | ZNF674 | c.424T>G (p.Tyr142Asp) c.421T>G (p.Tyr141Asp) c.439T>G (p.Tyr147Asp) c.436T>G (p.Tyr146Asp) c.331T>G (p.Tyr111Asp) c.238T>G (p.Tyr80Asp) c.235T>G (p.Tyr79Asp) | |
| X | g.46501150A>G | CA413031171 | ZNF674 | c.424T>C (p.Tyr142His) c.421T>C (p.Tyr141His) c.439T>C (p.Tyr147His) c.436T>C (p.Tyr146His) c.331T>C (p.Tyr111His) c.238T>C (p.Tyr80His) c.235T>C (p.Tyr79His) | |
| X | g.46501150A>T | CA413031170 | ZNF674 | c.424T>A (p.Tyr142Asn) c.421T>A (p.Tyr141Asn) c.439T>A (p.Tyr147Asn) c.436T>A (p.Tyr146Asn) c.331T>A (p.Tyr111Asn) c.238T>A (p.Tyr80Asn) c.235T>A (p.Tyr79Asn) | |
| X | g.46501151A>C | CA413031173 | ZNF674 | c.423T>G (p.Tyr141Ter) c.420T>G (p.Tyr140Ter) c.438T>G (p.Tyr146Ter) c.435T>G (p.Tyr145Ter) c.330T>G (p.Tyr110Ter) c.237T>G (p.Tyr79Ter) c.234T>G (p.Tyr78Ter) | |
| X | g.46501151A>G | CA516369089 | ZNF674 | c.423T>C (p.Tyr141=) c.420T>C (p.Tyr140=) c.438T>C (p.Tyr146=) c.435T>C (p.Tyr145=) c.330T>C (p.Tyr110=) c.237T>C (p.Tyr79=) c.234T>C (p.Tyr78=) | |
| X | g.46501151A>T | CA413031174 | ZNF674 | c.423T>A (p.Tyr141Ter) c.420T>A (p.Tyr140Ter) c.438T>A (p.Tyr146Ter) c.435T>A (p.Tyr145Ter) c.330T>A (p.Tyr110Ter) c.237T>A (p.Tyr79Ter) c.234T>A (p.Tyr78Ter) | gnomAD v4 |
| X | g.46501152T>A | CA413031175 | ZNF674 | c.422A>T (p.Tyr141Phe) c.419A>T (p.Tyr140Phe) c.437A>T (p.Tyr146Phe) c.434A>T (p.Tyr145Phe) c.329A>T (p.Tyr110Phe) c.236A>T (p.Tyr79Phe) c.233A>T (p.Tyr78Phe) | |
| X | g.46501152T>C | CA413031176 | ZNF674 | c.422A>G (p.Tyr141Cys) c.419A>G (p.Tyr140Cys) c.437A>G (p.Tyr146Cys) c.434A>G (p.Tyr145Cys) c.329A>G (p.Tyr110Cys) c.236A>G (p.Tyr79Cys) c.233A>G (p.Tyr78Cys) | |
| X | g.46501152T>G | CA413031177 | ZNF674 | c.422A>C (p.Tyr141Ser) c.419A>C (p.Tyr140Ser) c.437A>C (p.Tyr146Ser) c.434A>C (p.Tyr145Ser) c.329A>C (p.Tyr110Ser) c.236A>C (p.Tyr79Ser) c.233A>C (p.Tyr78Ser) | |
| X | g.46501153del | CA2579592298 | ZNF674 | c.421del (p.Tyr141IlefsTer12) c.418del (p.Tyr140IlefsTer12) c.436del (p.Tyr146IlefsTer12) c.433del (p.Tyr145IlefsTer12) c.328del (p.Tyr110IlefsTer12) c.235del (p.Tyr79IlefsTer12) c.232del (p.Tyr78IlefsTer12) | |
| X | g.46501153A>C | CA413031178 | ZNF674 | c.421T>G (p.Tyr141Asp) c.418T>G (p.Tyr140Asp) c.436T>G (p.Tyr146Asp) c.433T>G (p.Tyr145Asp) c.328T>G (p.Tyr110Asp) c.235T>G (p.Tyr79Asp) c.232T>G (p.Tyr78Asp) | |
| X | g.46501153A>G | CA413031179 | ZNF674 | c.421T>C (p.Tyr141His) c.418T>C (p.Tyr140His) c.436T>C (p.Tyr146His) c.433T>C (p.Tyr145His) c.328T>C (p.Tyr110His) c.235T>C (p.Tyr79His) c.232T>C (p.Tyr78His) | |
| X | g.46501153A>T | CA413031180 | ZNF674 | c.421T>A (p.Tyr141Asn) c.418T>A (p.Tyr140Asn) c.436T>A (p.Tyr146Asn) c.433T>A (p.Tyr145Asn) c.328T>A (p.Tyr110Asn) c.235T>A (p.Tyr79Asn) c.232T>A (p.Tyr78Asn) | |
| X | g.46501154T>A | CA413031181 | ZNF674 | c.420A>T (p.Lys140Asn) c.417A>T (p.Lys139Asn) c.435A>T (p.Lys145Asn) c.432A>T (p.Lys144Asn) c.327A>T (p.Lys109Asn) c.234A>T (p.Lys78Asn) c.231A>T (p.Lys77Asn) | |
| X | g.46501154T>C | CA516369095 | ZNF674 | c.420A>G (p.Lys140=) c.417A>G (p.Lys139=) c.435A>G (p.Lys145=) c.432A>G (p.Lys144=) c.327A>G (p.Lys109=) c.234A>G (p.Lys78=) c.231A>G (p.Lys77=) | gnomAD v4 |
| X | g.46501154T>G | CA413031182 | ZNF674 | c.420A>C (p.Lys140Asn) c.417A>C (p.Lys139Asn) c.435A>C (p.Lys145Asn) c.432A>C (p.Lys144Asn) c.327A>C (p.Lys109Asn) c.234A>C (p.Lys78Asn) c.231A>C (p.Lys77Asn) | |
| X | g.46501155T>A | CA413031183 | ZNF674 | c.419A>T (p.Lys140Ile) c.416A>T (p.Lys139Ile) c.434A>T (p.Lys145Ile) c.431A>T (p.Lys144Ile) c.326A>T (p.Lys109Ile) c.233A>T (p.Lys78Ile) c.230A>T (p.Lys77Ile) | |
| X | g.46501155T>C | CA413031184 | ZNF674 | c.419A>G (p.Lys140Arg) c.416A>G (p.Lys139Arg) c.434A>G (p.Lys145Arg) c.431A>G (p.Lys144Arg) c.326A>G (p.Lys109Arg) c.233A>G (p.Lys78Arg) c.230A>G (p.Lys77Arg) | |
| X | g.46501155T>G | CA413031185 | ZNF674 | c.419A>C (p.Lys140Thr) c.416A>C (p.Lys139Thr) c.434A>C (p.Lys145Thr) c.431A>C (p.Lys144Thr) c.326A>C (p.Lys109Thr) c.233A>C (p.Lys78Thr) c.230A>C (p.Lys77Thr) |