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.16051712G>A | CA338641279 | CLCNKB | c.1300G>A (p.Ala434Thr) c.*1042G>A (n.*1042G>A) n.915G>A n.2835G>A n.677G>A n.761G>A c.793G>A (p.Ala265Thr) c.919G>A (p.Ala307Thr) c.1141G>A (p.Ala381Thr) c.649G>A (p.Ala217Thr) | |
| 1 | g.16051712G>C | CA338641280 | CLCNKB | c.1300G>C (p.Ala434Pro) c.*1042G>C (n.*1042G>C) n.915G>C n.2835G>C n.677G>C n.761G>C c.793G>C (p.Ala265Pro) c.919G>C (p.Ala307Pro) c.1141G>C (p.Ala381Pro) c.649G>C (p.Ala217Pro) | gnomAD v4 |
| 1 | g.16051712G>T | CA338641282 | CLCNKB | c.1300G>T (p.Ala434Ser) c.*1042G>T (n.*1042G>T) n.915G>T n.2835G>T n.677G>T n.761G>T c.793G>T (p.Ala265Ser) c.919G>T (p.Ala307Ser) c.1141G>T (p.Ala381Ser) c.649G>T (p.Ala217Ser) | |
| 1 | g.16051713C>A | CA338641284 | CLCNKB | c.1301C>A (p.Ala434Asp) c.*1043C>A (n.*1043C>A) n.916C>A n.2836C>A n.678C>A n.762C>A c.794C>A (p.Ala265Asp) c.920C>A (p.Ala307Asp) c.1142C>A (p.Ala381Asp) c.650C>A (p.Ala217Asp) | |
| 1 | g.16051713C>G | CA338641289 | CLCNKB | c.1301C>G (p.Ala434Gly) c.*1043C>G (n.*1043C>G) n.916C>G n.2836C>G n.678C>G n.762C>G c.794C>G (p.Ala265Gly) c.920C>G (p.Ala307Gly) c.1142C>G (p.Ala381Gly) c.650C>G (p.Ala217Gly) | |
| 1 | g.16051713C>T | CA338641291 | CLCNKB | c.1301C>T (p.Ala434Val) c.*1043C>T (n.*1043C>T) n.916C>T n.2836C>T n.678C>T n.762C>T c.794C>T (p.Ala265Val) c.920C>T (p.Ala307Val) c.1142C>T (p.Ala381Val) c.650C>T (p.Ala217Val) | gnomAD v4 |
| 1 | g.16051714T>A | CA416249530 | CLCNKB | c.1302T>A (p.Ala434=) c.*1044T>A (n.*1044T>A) n.917T>A n.2837T>A n.679T>A n.763T>A c.795T>A (p.Ala265=) c.921T>A (p.Ala307=) c.1143T>A (p.Ala381=) c.651T>A (p.Ala217=) | |
| 1 | g.16051714T>C | CA416249527 | CLCNKB | c.1302T>C (p.Ala434=) c.*1044T>C (n.*1044T>C) n.917T>C n.2837T>C n.679T>C n.763T>C c.795T>C (p.Ala265=) c.921T>C (p.Ala307=) c.1143T>C (p.Ala381=) c.651T>C (p.Ala217=) | |
| 1 | g.16051714T>G | CA416249526 | CLCNKB | c.1302T>G (p.Ala434=) c.*1044T>G (n.*1044T>G) n.917T>G n.2837T>G n.679T>G n.763T>G c.795T>G (p.Ala265=) c.921T>G (p.Ala307=) c.1143T>G (p.Ala381=) c.651T>G (p.Ala217=) | |
| 1 | g.16051715G>A | CA338641293 | CLCNKB | c.1303G>A (p.Ala435Thr) c.*1045G>A (n.*1045G>A) n.918G>A n.2838G>A n.680G>A n.764G>A c.796G>A (p.Ala266Thr) c.922G>A (p.Ala308Thr) c.1144G>A (p.Ala382Thr) c.652G>A (p.Ala218Thr) | gnomAD v4 |
| 1 | g.16051715G>C | CA338641295 | CLCNKB | c.1303G>C (p.Ala435Pro) c.*1045G>C (n.*1045G>C) n.918G>C n.2838G>C n.680G>C n.764G>C c.796G>C (p.Ala266Pro) c.922G>C (p.Ala308Pro) c.1144G>C (p.Ala382Pro) c.652G>C (p.Ala218Pro) | |
| 1 | g.16051715G>T | CA338641297 | CLCNKB | c.1303G>T (p.Ala435Ser) c.*1045G>T (n.*1045G>T) n.918G>T n.2838G>T n.680G>T n.764G>T c.796G>T (p.Ala266Ser) c.922G>T (p.Ala308Ser) c.1144G>T (p.Ala382Ser) c.652G>T (p.Ala218Ser) | |
| 1 | g.16051716C>A | CA338641299 | CLCNKB | c.1304C>A (p.Ala435Asp) c.*1046C>A (n.*1046C>A) n.919C>A n.2839C>A n.681C>A n.765C>A c.797C>A (p.Ala266Asp) c.923C>A (p.Ala308Asp) c.1145C>A (p.Ala382Asp) c.653C>A (p.Ala218Asp) | |
| 1 | g.16051716C>G | CA338641301 | CLCNKB | c.1304C>G (p.Ala435Gly) c.*1046C>G (n.*1046C>G) n.919C>G n.2839C>G n.681C>G n.765C>G c.797C>G (p.Ala266Gly) c.923C>G (p.Ala308Gly) c.1145C>G (p.Ala382Gly) c.653C>G (p.Ala218Gly) | |
| 1 | g.16051716C>T | CA338641303 | CLCNKB | c.1304C>T (p.Ala435Val) c.*1046C>T (n.*1046C>T) n.919C>T n.2839C>T n.681C>T n.765C>T c.797C>T (p.Ala266Val) c.923C>T (p.Ala308Val) c.1145C>T (p.Ala382Val) c.653C>T (p.Ala218Val) | |
| 1 | g.16051717T>A | CA416249563 | CLCNKB | c.1305T>A (p.Ala435=) c.*1047T>A (n.*1047T>A) n.920T>A n.2840T>A n.682T>A n.766T>A c.798T>A (p.Ala266=) c.924T>A (p.Ala308=) c.1146T>A (p.Ala382=) c.654T>A (p.Ala218=) | |
| 1 | g.16051717T>C | CA623808 | CLCNKB | c.1305T>C (p.Ala435=) c.*1047T>C (n.*1047T>C) n.920T>C n.2840T>C n.682T>C n.766T>C c.798T>C (p.Ala266=) c.924T>C (p.Ala308=) c.1146T>C (p.Ala382=) c.654T>C (p.Ala218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16051717T>G | CA416249565 | CLCNKB | c.1305T>G (p.Ala435=) c.*1047T>G (n.*1047T>G) n.920T>G n.2840T>G n.682T>G n.766T>G c.798T>G (p.Ala266=) c.924T>G (p.Ala308=) c.1146T>G (p.Ala382=) c.654T>G (p.Ala218=) | |
| 1 | g.16051717T= | CA1155658595 | CLCNKB | c.1305T= (p.Ala435=) c.*1047T= (n.*1047T=) n.920T= n.2840T= n.682T= n.766T= c.798T= (p.Ala266=) c.924T= (p.Ala308=) c.1146T= (p.Ala382=) c.654T= (p.Ala218=) | |
| 1 | g.16051718A= | CA1143404319 | CLCNKB | c.1306A= (p.Ile436=) c.*1048A= (n.*1048A=) n.921A= n.2841A= n.683A= n.767A= c.799A= (p.Ile267=) c.925A= (p.Ile309=) c.1147A= (p.Ile383=) c.655A= (p.Ile219=) | |
| 1 | g.16051718A>C | CA338641305 | CLCNKB | c.1306A>C (p.Ile436Leu) c.*1048A>C (n.*1048A>C) n.921A>C n.2841A>C n.683A>C n.767A>C c.799A>C (p.Ile267Leu) c.925A>C (p.Ile309Leu) c.1147A>C (p.Ile383Leu) c.655A>C (p.Ile219Leu) | gnomAD v4 |
| 1 | g.16051718A>G | CA18336035 | CLCNKB | c.1306A>G (p.Ile436Val) c.*1048A>G (n.*1048A>G) n.921A>G n.2841A>G n.683A>G n.767A>G c.799A>G (p.Ile267Val) c.925A>G (p.Ile309Val) c.1147A>G (p.Ile383Val) c.655A>G (p.Ile219Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16051718A>T | CA338641307 | CLCNKB | c.1306A>T (p.Ile436Phe) c.*1048A>T (n.*1048A>T) n.921A>T n.2841A>T n.683A>T n.767A>T c.799A>T (p.Ile267Phe) c.925A>T (p.Ile309Phe) c.1147A>T (p.Ile383Phe) c.655A>T (p.Ile219Phe) | ClinVar dbSNP |
| 1 | g.16051719T>A | CA338641309 | CLCNKB | c.1307T>A (p.Ile436Asn) c.*1049T>A (n.*1049T>A) n.922T>A n.2842T>A n.684T>A n.768T>A c.800T>A (p.Ile267Asn) c.926T>A (p.Ile309Asn) c.1148T>A (p.Ile383Asn) c.656T>A (p.Ile219Asn) | |
| 1 | g.16051719T>C | CA338641311 | CLCNKB | c.1307T>C (p.Ile436Thr) c.*1049T>C (n.*1049T>C) n.922T>C n.2842T>C n.684T>C n.768T>C c.800T>C (p.Ile267Thr) c.926T>C (p.Ile309Thr) c.1148T>C (p.Ile383Thr) c.656T>C (p.Ile219Thr) | |
| 1 | g.16051719T>G | CA338641313 | CLCNKB | c.1307T>G (p.Ile436Ser) c.*1049T>G (n.*1049T>G) n.922T>G n.2842T>G n.684T>G n.768T>G c.800T>G (p.Ile267Ser) c.926T>G (p.Ile309Ser) c.1148T>G (p.Ile383Ser) c.656T>G (p.Ile219Ser) | |
| 1 | g.16051720C>A | CA416249583 | CLCNKB | c.1308C>A (p.Ile436=) c.*1050C>A (n.*1050C>A) n.923C>A n.2843C>A n.685C>A n.769C>A c.801C>A (p.Ile267=) c.927C>A (p.Ile309=) c.1149C>A (p.Ile383=) c.657C>A (p.Ile219=) | |
| 1 | g.16051720C= | CA1139772941 | CLCNKB | c.1308C= (p.Ile436=) c.*1050C= (n.*1050C=) n.923C= n.2843C= n.685C= n.769C= c.801C= (p.Ile267=) c.927C= (p.Ile309=) c.1149C= (p.Ile383=) c.657C= (p.Ile219=) | |
| 1 | g.16051720C>G | CA338641315 | CLCNKB | c.1308C>G (p.Ile436Met) c.*1050C>G (n.*1050C>G) n.923C>G n.2843C>G n.685C>G n.769C>G c.801C>G (p.Ile267Met) c.927C>G (p.Ile309Met) c.1149C>G (p.Ile383Met) c.657C>G (p.Ile219Met) | |
| 1 | g.16051720C>T | CA623809 | CLCNKB | c.1308C>T (p.Ile436=) c.*1050C>T (n.*1050C>T) n.923C>T n.2843C>T n.685C>T n.769C>T c.801C>T (p.Ile267=) c.927C>T (p.Ile309=) c.1149C>T (p.Ile383=) c.657C>T (p.Ile219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16051721G>A | CA623810 | CLCNKB | c.1309G>A (p.Gly437Arg) c.*1051G>A (n.*1051G>A) n.924G>A n.2844G>A n.686G>A n.770G>A c.802G>A (p.Gly268Arg) c.928G>A (p.Gly310Arg) c.1150G>A (p.Gly384Arg) c.658G>A (p.Gly220Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16051721G>C | CA338641319 | CLCNKB | c.1309G>C (p.Gly437Arg) c.*1051G>C (n.*1051G>C) n.924G>C n.2844G>C n.686G>C n.770G>C c.802G>C (p.Gly268Arg) c.928G>C (p.Gly310Arg) c.1150G>C (p.Gly384Arg) c.658G>C (p.Gly220Arg) | dbSNP gnomAD v4 |
| 1 | g.16051721G= | CA1155658596 | CLCNKB | c.1309G= (p.Gly437=) c.*1051G= (n.*1051G=) n.924G= n.2844G= n.686G= n.770G= c.802G= (p.Gly268=) c.928G= (p.Gly310=) c.1150G= (p.Gly384=) c.658G= (p.Gly220=) | |
| 1 | g.16051721G>T | CA338641321 | CLCNKB | c.1309G>T (p.Gly437Trp) c.*1051G>T (n.*1051G>T) n.924G>T n.2844G>T n.686G>T n.770G>T c.802G>T (p.Gly268Trp) c.928G>T (p.Gly310Trp) c.1150G>T (p.Gly384Trp) c.658G>T (p.Gly220Trp) | |
| 1 | g.16051722G>A | CA338641329 | CLCNKB | c.1310G>A (p.Gly437Glu) c.*1052G>A (n.*1052G>A) n.925G>A n.2845G>A n.687G>A n.771G>A c.803G>A (p.Gly268Glu) c.929G>A (p.Gly310Glu) c.1151G>A (p.Gly384Glu) c.659G>A (p.Gly220Glu) | gnomAD v4 |
| 1 | g.16051722G>C | CA338641325 | CLCNKB | c.1310G>C (p.Gly437Ala) c.*1052G>C (n.*1052G>C) n.925G>C n.2845G>C n.687G>C n.771G>C c.803G>C (p.Gly268Ala) c.929G>C (p.Gly310Ala) c.1151G>C (p.Gly384Ala) c.659G>C (p.Gly220Ala) | |
| 1 | g.16051722G>T | CA338641323 | CLCNKB | c.1310G>T (p.Gly437Val) c.*1052G>T (n.*1052G>T) n.925G>T n.2845G>T n.687G>T n.771G>T c.803G>T (p.Gly268Val) c.929G>T (p.Gly310Val) c.1151G>T (p.Gly384Val) c.659G>T (p.Gly220Val) | |
| 1 | g.16051723G>A | CA416249621 | CLCNKB | c.1311G>A (p.Gly437=) c.*1053G>A (n.*1053G>A) n.926G>A n.2846G>A n.688G>A n.772G>A c.804G>A (p.Gly268=) c.930G>A (p.Gly310=) c.1152G>A (p.Gly384=) c.660G>A (p.Gly220=) | |
| 1 | g.16051723G>C | CA416249625 | CLCNKB | c.1311G>C (p.Gly437=) c.*1053G>C (n.*1053G>C) n.926G>C n.2846G>C n.688G>C n.772G>C c.804G>C (p.Gly268=) c.930G>C (p.Gly310=) c.1152G>C (p.Gly384=) c.660G>C (p.Gly220=) | |
| 1 | g.16051723G>T | CA416249627 | CLCNKB | c.1311G>T (p.Gly437=) c.*1053G>T (n.*1053G>T) n.926G>T n.2846G>T n.688G>T n.772G>T c.804G>T (p.Gly268=) c.930G>T (p.Gly310=) c.1152G>T (p.Gly384=) c.660G>T (p.Gly220=) | |
| 1 | g.16051724C>A | CA623811 | CLCNKB | c.1312C>A (p.Arg438Ser) c.*1054C>A (n.*1054C>A) n.927C>A n.2847C>A n.689C>A n.773C>A c.805C>A (p.Arg269Ser) c.931C>A (p.Arg311Ser) c.1153C>A (p.Arg385Ser) c.661C>A (p.Arg221Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16051724C= | CA1141580608 | CLCNKB | c.1312C= (p.Arg438=) c.*1054C= (n.*1054C=) n.927C= n.2847C= n.689C= n.773C= c.805C= (p.Arg269=) c.931C= (p.Arg311=) c.1153C= (p.Arg385=) c.661C= (p.Arg221=) | |
| 1 | g.16051724C>G | CA338641330 | CLCNKB | c.1312C>G (p.Arg438Gly) c.*1054C>G (n.*1054C>G) n.927C>G n.2847C>G n.689C>G n.773C>G c.805C>G (p.Arg269Gly) c.931C>G (p.Arg311Gly) c.1153C>G (p.Arg385Gly) c.661C>G (p.Arg221Gly) | |
| 1 | g.16051724C>T | CA118914 | CLCNKB | c.1312C>T (p.Arg438Cys) c.*1054C>T (n.*1054C>T) n.927C>T n.2847C>T n.689C>T n.773C>T c.805C>T (p.Arg269Cys) c.931C>T (p.Arg311Cys) c.1153C>T (p.Arg385Cys) c.661C>T (p.Arg221Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.16051725G>A | CA623812 | CLCNKB | c.1313G>A (p.Arg438His) c.*1055G>A (n.*1055G>A) n.928G>A n.2848G>A n.690G>A n.774G>A c.806G>A (p.Arg269His) c.932G>A (p.Arg311His) c.1154G>A (p.Arg385His) c.662G>A (p.Arg221His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.16051725G>C | CA338641332 | CLCNKB | c.1313G>C (p.Arg438Pro) c.*1055G>C (n.*1055G>C) n.928G>C n.2848G>C n.690G>C n.774G>C c.806G>C (p.Arg269Pro) c.932G>C (p.Arg311Pro) c.1154G>C (p.Arg385Pro) c.662G>C (p.Arg221Pro) | |
| 1 | g.16051725G= | CA1143489413 | CLCNKB | c.1313G= (p.Arg438=) c.*1055G= (n.*1055G=) n.928G= n.2848G= n.690G= n.774G= c.806G= (p.Arg269=) c.932G= (p.Arg311=) c.1154G= (p.Arg385=) c.662G= (p.Arg221=) | |
| 1 | g.16051725G>T | CA338641334 | CLCNKB | c.1313G>T (p.Arg438Leu) c.*1055G>T (n.*1055G>T) n.928G>T n.2848G>T n.690G>T n.774G>T c.806G>T (p.Arg269Leu) c.932G>T (p.Arg311Leu) c.1154G>T (p.Arg385Leu) c.662G>T (p.Arg221Leu) | |
| 1 | g.16051726C>A | CA623813 | CLCNKB | c.1314C>A (p.Arg438=) c.*1056C>A (n.*1056C>A) n.929C>A n.2849C>A n.691C>A n.775C>A c.807C>A (p.Arg269=) c.933C>A (p.Arg311=) c.1155C>A (p.Arg385=) c.663C>A (p.Arg221=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16051726C= | CA1155658597 | CLCNKB | c.1314C= (p.Arg438=) c.*1056C= (n.*1056C=) n.929C= n.2849C= n.691C= n.775C= c.807C= (p.Arg269=) c.933C= (p.Arg311=) c.1155C= (p.Arg385=) c.663C= (p.Arg221=) |