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.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=) | |
| 1 | g.16051726C>G | CA416249654 | CLCNKB | c.1314C>G (p.Arg438=) c.*1056C>G (n.*1056C>G) n.929C>G n.2849C>G n.691C>G n.775C>G c.807C>G (p.Arg269=) c.933C>G (p.Arg311=) c.1155C>G (p.Arg385=) c.663C>G (p.Arg221=) | |
| 1 | g.16051726C>T | CA416249652 | CLCNKB | c.1314C>T (p.Arg438=) c.*1056C>T (n.*1056C>T) n.929C>T n.2849C>T n.691C>T n.775C>T c.807C>T (p.Arg269=) c.933C>T (p.Arg311=) c.1155C>T (p.Arg385=) c.663C>T (p.Arg221=) | |
| 1 | g.16051727C>A | CA338641336 | CLCNKB | c.1315C>A (p.Leu439Ile) c.*1057C>A (n.*1057C>A) n.930C>A n.2850C>A n.692C>A n.776C>A c.808C>A (p.Leu270Ile) c.934C>A (p.Leu312Ile) c.1156C>A (p.Leu386Ile) c.664C>A (p.Leu222Ile) | |
| 1 | g.16051727C>G | CA338641338 | CLCNKB | c.1315C>G (p.Leu439Val) c.*1057C>G (n.*1057C>G) n.930C>G n.2850C>G n.692C>G n.776C>G c.808C>G (p.Leu270Val) c.934C>G (p.Leu312Val) c.1156C>G (p.Leu386Val) c.664C>G (p.Leu222Val) | |
| 1 | g.16051727C>T | CA338641340 | CLCNKB | c.1315C>T (p.Leu439Phe) c.*1057C>T (n.*1057C>T) n.930C>T n.2850C>T n.692C>T n.776C>T c.808C>T (p.Leu270Phe) c.934C>T (p.Leu312Phe) c.1156C>T (p.Leu386Phe) c.664C>T (p.Leu222Phe) | gnomAD v4 |
| 1 | g.16051728T>A | CA338641342 | CLCNKB | c.1316T>A (p.Leu439His) c.*1058T>A (n.*1058T>A) n.931T>A n.2851T>A n.693T>A n.777T>A c.809T>A (p.Leu270His) c.935T>A (p.Leu312His) c.1157T>A (p.Leu386His) c.665T>A (p.Leu222His) | |
| 1 | g.16051728T>C | CA623814 | CLCNKB | c.1316T>C (p.Leu439Pro) c.*1058T>C (n.*1058T>C) n.931T>C n.2851T>C n.693T>C n.777T>C c.809T>C (p.Leu270Pro) c.935T>C (p.Leu312Pro) c.1157T>C (p.Leu386Pro) c.665T>C (p.Leu222Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16051728T>G | CA338641345 | CLCNKB | c.1316T>G (p.Leu439Arg) c.*1058T>G (n.*1058T>G) n.931T>G n.2851T>G n.693T>G n.777T>G c.809T>G (p.Leu270Arg) c.935T>G (p.Leu312Arg) c.1157T>G (p.Leu386Arg) c.665T>G (p.Leu222Arg) | |
| 1 | g.16051728T= | CA1141709659 | CLCNKB | c.1316T= (p.Leu439=) c.*1058T= (n.*1058T=) n.931T= n.2851T= n.693T= n.777T= c.809T= (p.Leu270=) c.935T= (p.Leu312=) c.1157T= (p.Leu386=) c.665T= (p.Leu222=) | |
| 1 | g.16051729C>A | CA416249713 | CLCNKB | c.1317C>A (p.Leu439=) c.*1059C>A (n.*1059C>A) n.932C>A n.2852C>A n.694C>A n.778C>A c.810C>A (p.Leu270=) c.936C>A (p.Leu312=) c.1158C>A (p.Leu386=) c.666C>A (p.Leu222=) | |
| 1 | g.16051729C= | CA1155658598 | CLCNKB | c.1317C= (p.Leu439=) c.*1059C= (n.*1059C=) n.932C= n.2852C= n.694C= n.778C= c.810C= (p.Leu270=) c.936C= (p.Leu312=) c.1158C= (p.Leu386=) c.666C= (p.Leu222=) | |
| 1 | g.16051729C>G | CA416249710 | CLCNKB | c.1317C>G (p.Leu439=) c.*1059C>G (n.*1059C>G) n.932C>G n.2852C>G n.694C>G n.778C>G c.810C>G (p.Leu270=) c.936C>G (p.Leu312=) c.1158C>G (p.Leu386=) c.666C>G (p.Leu222=) | dbSNP gnomAD v3 gnomAD v4 |