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.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 |
| 1 | g.16051729C>T | CA416249704 | CLCNKB | c.1317C>T (p.Leu439=) c.*1059C>T (n.*1059C>T) n.932C>T n.2852C>T n.694C>T n.778C>T c.810C>T (p.Leu270=) c.936C>T (p.Leu312=) c.1158C>T (p.Leu386=) c.666C>T (p.Leu222=) | |
| 1 | g.16051730T>A | CA338641347 | CLCNKB | c.1318T>A (p.Phe440Ile) c.*1060T>A (n.*1060T>A) n.933T>A n.2853T>A n.695T>A n.779T>A c.811T>A (p.Phe271Ile) c.937T>A (p.Phe313Ile) c.1159T>A (p.Phe387Ile) c.667T>A (p.Phe223Ile) | |
| 1 | g.16051730T>C | CA338641350 | CLCNKB | c.1318T>C (p.Phe440Leu) c.*1060T>C (n.*1060T>C) n.933T>C n.2853T>C n.695T>C n.779T>C c.811T>C (p.Phe271Leu) c.937T>C (p.Phe313Leu) c.1159T>C (p.Phe387Leu) c.667T>C (p.Phe223Leu) | |
| 1 | g.16051730T>G | CA338641348 | CLCNKB | c.1318T>G (p.Phe440Val) c.*1060T>G (n.*1060T>G) n.933T>G n.2853T>G n.695T>G n.779T>G c.811T>G (p.Phe271Val) c.937T>G (p.Phe313Val) c.1159T>G (p.Phe387Val) c.667T>G (p.Phe223Val) | |
| 1 | g.16051731T>A | CA338641351 | CLCNKB | c.1319T>A (p.Phe440Tyr) c.*1061T>A (n.*1061T>A) n.934T>A n.2854T>A n.696T>A n.780T>A c.812T>A (p.Phe271Tyr) c.938T>A (p.Phe313Tyr) c.1160T>A (p.Phe387Tyr) c.668T>A (p.Phe223Tyr) | |
| 1 | g.16051731T>C | CA338641352 | CLCNKB | c.1319T>C (p.Phe440Ser) c.*1061T>C (n.*1061T>C) n.934T>C n.2854T>C n.696T>C n.780T>C c.812T>C (p.Phe271Ser) c.938T>C (p.Phe313Ser) c.1160T>C (p.Phe387Ser) c.668T>C (p.Phe223Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16051731T>G | CA338641353 | CLCNKB | c.1319T>G (p.Phe440Cys) c.*1061T>G (n.*1061T>G) n.934T>G n.2854T>G n.696T>G n.780T>G c.812T>G (p.Phe271Cys) c.938T>G (p.Phe313Cys) c.1160T>G (p.Phe387Cys) c.668T>G (p.Phe223Cys) | |
| 1 | g.16051731T= | CA1155658599 | CLCNKB | c.1319T= (p.Phe440=) c.*1061T= (n.*1061T=) n.934T= n.2854T= n.696T= n.780T= c.812T= (p.Phe271=) c.938T= (p.Phe313=) c.1160T= (p.Phe387=) c.668T= (p.Phe223=) | |
| 1 | g.16051732T>A | CA338641354 | CLCNKB | c.1320T>A (p.Phe440Leu) c.*1062T>A (n.*1062T>A) n.935T>A n.2855T>A n.697T>A n.781T>A c.813T>A (p.Phe271Leu) c.939T>A (p.Phe313Leu) c.1161T>A (p.Phe387Leu) c.669T>A (p.Phe223Leu) | |
| 1 | g.16051732T>C | CA416249764 | CLCNKB | c.1320T>C (p.Phe440=) c.*1062T>C (n.*1062T>C) n.935T>C n.2855T>C n.697T>C n.781T>C c.813T>C (p.Phe271=) c.939T>C (p.Phe313=) c.1161T>C (p.Phe387=) c.669T>C (p.Phe223=) | |
| 1 | g.16051732T>G | CA338641356 | CLCNKB | c.1320T>G (p.Phe440Leu) c.*1062T>G (n.*1062T>G) n.935T>G n.2855T>G n.697T>G n.781T>G c.813T>G (p.Phe271Leu) c.939T>G (p.Phe313Leu) c.1161T>G (p.Phe387Leu) c.669T>G (p.Phe223Leu) | |
| 1 | g.16051732T= | CA1155658600 | CLCNKB | c.1320T= (p.Phe440=) c.*1062T= (n.*1062T=) n.935T= n.2855T= n.697T= n.781T= c.813T= (p.Phe271=) c.939T= (p.Phe313=) c.1161T= (p.Phe387=) c.669T= (p.Phe223=) | |
| 1 | g.16051733G>A | CA338641361 | CLCNKB | c.1321G>A (p.Gly441Arg) c.*1063G>A (n.*1063G>A) n.936G>A n.2856G>A n.698G>A n.782G>A c.814G>A (p.Gly272Arg) c.940G>A (p.Gly314Arg) c.1162G>A (p.Gly388Arg) c.670G>A (p.Gly224Arg) | |
| 1 | g.16051733G>C | CA338641362 | CLCNKB | c.1321G>C (p.Gly441Arg) c.*1063G>C (n.*1063G>C) n.936G>C n.2856G>C n.698G>C n.782G>C c.814G>C (p.Gly272Arg) c.940G>C (p.Gly314Arg) c.1162G>C (p.Gly388Arg) c.670G>C (p.Gly224Arg) | |
| 1 | g.16051733G>T | CA338641363 | CLCNKB | c.1321G>T (p.Gly441Trp) c.*1063G>T (n.*1063G>T) n.936G>T n.2856G>T n.698G>T n.782G>T c.814G>T (p.Gly272Trp) c.940G>T (p.Gly314Trp) c.1162G>T (p.Gly388Trp) c.670G>T (p.Gly224Trp) | |
| 1 | g.16051736dup | CA1155658601 | CLCNKB | c.1324dup (p.Glu442GlyfsTer9) c.*1066dup (n.*1066dup) n.939dup n.2859dup n.701dup n.785dup c.817dup (p.Glu273GlyfsTer9) c.943dup (p.Glu315GlyfsTer9) c.1165dup (p.Glu389GlyfsTer9) c.673dup (p.Glu225GlyfsTer9) | dbSNP |
| 1 | g.16051734G>A | CA338641364 | CLCNKB | c.1322G>A (p.Gly441Glu) c.*1064G>A (n.*1064G>A) n.937G>A n.2857G>A n.699G>A n.783G>A c.815G>A (p.Gly272Glu) c.941G>A (p.Gly314Glu) c.1163G>A (p.Gly388Glu) c.671G>A (p.Gly224Glu) | |
| 1 | g.16051734G>C | CA338641365 | CLCNKB | c.1322G>C (p.Gly441Ala) c.*1064G>C (n.*1064G>C) n.937G>C n.2857G>C n.699G>C n.783G>C c.815G>C (p.Gly272Ala) c.941G>C (p.Gly314Ala) c.1163G>C (p.Gly388Ala) c.671G>C (p.Gly224Ala) | |
| 1 | g.16051734G>T | CA338641366 | CLCNKB | c.1322G>T (p.Gly441Val) c.*1064G>T (n.*1064G>T) n.937G>T n.2857G>T n.699G>T n.783G>T c.815G>T (p.Gly272Val) c.941G>T (p.Gly314Val) c.1163G>T (p.Gly388Val) c.671G>T (p.Gly224Val) | |
| 1 | g.16051735G>A | CA416249790 | CLCNKB | c.1323G>A (p.Gly441=) c.*1065G>A (n.*1065G>A) n.938G>A n.2858G>A n.700G>A n.784G>A c.816G>A (p.Gly272=) c.942G>A (p.Gly314=) c.1164G>A (p.Gly388=) c.672G>A (p.Gly224=) | |
| 1 | g.16051735G>C | CA416249794 | CLCNKB | c.1323G>C (p.Gly441=) c.*1065G>C (n.*1065G>C) n.938G>C n.2858G>C n.700G>C n.784G>C c.816G>C (p.Gly272=) c.942G>C (p.Gly314=) c.1164G>C (p.Gly388=) c.672G>C (p.Gly224=) | |
| 1 | g.16051735G>T | CA416249795 | CLCNKB | c.1323G>T (p.Gly441=) c.*1065G>T (n.*1065G>T) n.938G>T n.2858G>T n.700G>T n.784G>T c.816G>T (p.Gly272=) c.942G>T (p.Gly314=) c.1164G>T (p.Gly388=) c.672G>T (p.Gly224=) | |
| 1 | g.16051736G>A | CA338641368 | CLCNKB | c.1324G>A (p.Glu442Lys) c.*1066G>A (n.*1066G>A) n.939G>A n.2859G>A n.701G>A n.785G>A c.817G>A (p.Glu273Lys) c.943G>A (p.Glu315Lys) c.1165G>A (p.Glu389Lys) c.673G>A (p.Glu225Lys) | ClinVar |
| 1 | g.16051736G>C | CA338641370 | CLCNKB | c.1324G>C (p.Glu442Gln) c.*1066G>C (n.*1066G>C) n.939G>C n.2859G>C n.701G>C n.785G>C c.817G>C (p.Glu273Gln) c.943G>C (p.Glu315Gln) c.1165G>C (p.Glu389Gln) c.673G>C (p.Glu225Gln) | |
| 1 | g.16051736G>T | CA338641367 | CLCNKB | c.1324G>T (p.Glu442Ter) c.*1066G>T (n.*1066G>T) n.939G>T n.2859G>T n.701G>T n.785G>T c.817G>T (p.Glu273Ter) c.943G>T (p.Glu315Ter) c.1165G>T (p.Glu389Ter) c.673G>T (p.Glu225Ter) | |
| 1 | g.16051737A= | CA1155658602 | CLCNKB | c.1325A= (p.Glu442=) c.*1067A= (n.*1067A=) n.940A= n.2860A= n.702A= n.786A= c.818A= (p.Glu273=) c.944A= (p.Glu315=) c.1166A= (p.Glu389=) c.674A= (p.Glu225=) | |
| 1 | g.16051737A>C | CA338641375 | CLCNKB | c.1325A>C (p.Glu442Ala) c.*1067A>C (n.*1067A>C) n.940A>C n.2860A>C n.702A>C n.786A>C c.818A>C (p.Glu273Ala) c.944A>C (p.Glu315Ala) c.1166A>C (p.Glu389Ala) c.674A>C (p.Glu225Ala) | |
| 1 | g.16051737A>G | CA338641371 | CLCNKB | c.1325A>G (p.Glu442Gly) c.*1067A>G (n.*1067A>G) n.940A>G n.2860A>G n.702A>G n.786A>G c.818A>G (p.Glu273Gly) c.944A>G (p.Glu315Gly) c.1166A>G (p.Glu389Gly) c.674A>G (p.Glu225Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |