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 |
|---|---|---|---|---|---|
| 7 | g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
| 7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
| 7 | g.117540193T>A | CA457448649 | CFTR | c.963T>A (p.Ser321=) c.*860T>A (n.*860T>A) c.*787T>A (n.*787T>A) c.720T>A (p.Ser240=) c.873T>A (p.Ser291=) c.1053T>A (p.Ser351=) | |
| 7 | g.117540193T>C | CA4450871 | CFTR | c.963T>C (p.Ser321=) c.*860T>C (n.*860T>C) c.*787T>C (n.*787T>C) c.720T>C (p.Ser240=) c.873T>C (p.Ser291=) c.1053T>C (p.Ser351=) | dbSNP ExAC gnomAD v2 |
| 7 | g.117540193T>G | CA457448650 | CFTR | c.963T>G (p.Ser321=) c.*860T>G (n.*860T>G) c.*787T>G (n.*787T>G) c.720T>G (p.Ser240=) c.873T>G (p.Ser291=) c.1053T>G (p.Ser351=) | COSMIC |
| 7 | g.117540193T= | CA1737331984 | CFTR | c.963T= (p.Ser321=) c.*860T= (n.*860T=) c.*787T= (n.*787T=) c.720T= (p.Ser240=) c.873T= (p.Ser291=) c.1053T= (p.Ser351=) | |
| 7 | g.117540194G>A | CA132755 | CFTR | c.964G>A (p.Val322Met) c.*861G>A (n.*861G>A) c.*788G>A (n.*788G>A) c.721G>A (p.Val241Met) c.874G>A (p.Val292Met) c.1054G>A (p.Val352Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540194G>C | CA368978521 | CFTR | c.964G>C (p.Val322Leu) c.*861G>C (n.*861G>C) c.*788G>C (n.*788G>C) c.721G>C (p.Val241Leu) c.874G>C (p.Val292Leu) c.1054G>C (p.Val352Leu) | |
| 7 | g.117540194G= | CA1737331991 | CFTR | c.964G= (p.Val322=) c.*861G= (n.*861G=) c.*788G= (n.*788G=) c.721G= (p.Val241=) c.874G= (p.Val292=) c.1054G= (p.Val352=) | |
| 7 | g.117540194G>T | CA368978522 | CFTR | c.964G>T (p.Val322Leu) c.*861G>T (n.*861G>T) c.*788G>T (n.*788G>T) c.721G>T (p.Val241Leu) c.874G>T (p.Val292Leu) c.1054G>T (p.Val352Leu) | |
| 7 | g.117540195T>A | CA368978531 | CFTR | c.965T>A (p.Val322Glu) c.*862T>A (n.*862T>A) c.*789T>A (n.*789T>A) c.722T>A (p.Val241Glu) c.875T>A (p.Val292Glu) c.1055T>A (p.Val352Glu) | |
| 7 | g.117540195T>C | CA368978524 | CFTR | c.965T>C (p.Val322Ala) c.*862T>C (n.*862T>C) c.*789T>C (n.*789T>C) c.722T>C (p.Val241Ala) c.875T>C (p.Val292Ala) c.1055T>C (p.Val352Ala) | |
| 7 | g.117540195T>G | CA368978527 | CFTR | c.965T>G (p.Val322Gly) c.*862T>G (n.*862T>G) c.*789T>G (n.*789T>G) c.722T>G (p.Val241Gly) c.875T>G (p.Val292Gly) c.1055T>G (p.Val352Gly) | |
| 7 | g.117540196G>A | CA457448655 | CFTR | c.966G>A (p.Val322=) c.*863G>A (n.*863G>A) c.*790G>A (n.*790G>A) c.723G>A (p.Val241=) c.876G>A (p.Val292=) c.1056G>A (p.Val352=) | |
| 7 | g.117540196G>C | CA457448656 | CFTR | c.966G>C (p.Val322=) c.*863G>C (n.*863G>C) c.*790G>C (n.*790G>C) c.723G>C (p.Val241=) c.876G>C (p.Val292=) c.1056G>C (p.Val352=) | ClinVar dbSNP |
| 7 | g.117540196G>T | CA457448657 | CFTR | c.966G>T (p.Val322=) c.*863G>T (n.*863G>T) c.*790G>T (n.*790G>T) c.723G>T (p.Val241=) c.876G>T (p.Val292=) c.1056G>T (p.Val352=) | |
| 7 | g.117540197C>A | CA368978533 | CFTR | c.967C>A (p.Leu323Ile) c.*864C>A (n.*864C>A) c.*791C>A (n.*791C>A) c.724C>A (p.Leu242Ile) c.877C>A (p.Leu293Ile) c.1057C>A (p.Leu353Ile) | |
| 7 | g.117540197C>G | CA368978535 | CFTR | c.967C>G (p.Leu323Val) c.*864C>G (n.*864C>G) c.*791C>G (n.*791C>G) c.724C>G (p.Leu242Val) c.877C>G (p.Leu293Val) c.1057C>G (p.Leu353Val) | |
| 7 | g.117540197C>T | CA368978537 | CFTR | c.967C>T (p.Leu323Phe) c.*864C>T (n.*864C>T) c.*791C>T (n.*791C>T) c.724C>T (p.Leu242Phe) c.877C>T (p.Leu293Phe) c.1057C>T (p.Leu353Phe) | |
| 7 | g.117540198T>A | CA368978541 | CFTR | c.968T>A (p.Leu323His) c.*865T>A (n.*865T>A) c.*792T>A (n.*792T>A) c.725T>A (p.Leu242His) c.878T>A (p.Leu293His) c.1058T>A (p.Leu353His) | |
| 7 | g.117540198T>C | CA368978546 | CFTR | c.968T>C (p.Leu323Pro) c.*865T>C (n.*865T>C) c.*792T>C (n.*792T>C) c.725T>C (p.Leu242Pro) c.878T>C (p.Leu293Pro) c.1058T>C (p.Leu353Pro) | |
| 7 | g.117540198T>G | CA368978547 | CFTR | c.968T>G (p.Leu323Arg) c.*865T>G (n.*865T>G) c.*792T>G (n.*792T>G) c.725T>G (p.Leu242Arg) c.878T>G (p.Leu293Arg) c.1058T>G (p.Leu353Arg) | |
| 7 | g.117540199T>A | CA457448661 | CFTR | c.969T>A (p.Leu323=) c.*866T>A (n.*866T>A) c.*793T>A (n.*793T>A) c.726T>A (p.Leu242=) c.879T>A (p.Leu293=) c.1059T>A (p.Leu353=) | ClinVar |
| 7 | g.117540199T>C | CA457448659 | CFTR | c.969T>C (p.Leu323=) c.*866T>C (n.*866T>C) c.*793T>C (n.*793T>C) c.726T>C (p.Leu242=) c.879T>C (p.Leu293=) c.1059T>C (p.Leu353=) | |
| 7 | g.117540199T>G | CA457448660 | CFTR | c.969T>G (p.Leu323=) c.*866T>G (n.*866T>G) c.*793T>G (n.*793T>G) c.726T>G (p.Leu242=) c.879T>G (p.Leu293=) c.1059T>G (p.Leu353=) | |
| 7 | g.117540200C>A | CA368978550 | CFTR | c.970C>A (p.Pro324Thr) c.*867C>A (n.*867C>A) c.*794C>A (n.*794C>A) c.727C>A (p.Pro243Thr) c.880C>A (p.Pro294Thr) c.1060C>A (p.Pro354Thr) | |
| 7 | g.117540200C= | CA1737331997 | CFTR | c.970C= (p.Pro324=) c.*867C= (n.*867C=) c.*794C= (n.*794C=) c.727C= (p.Pro243=) c.880C= (p.Pro294=) c.1060C= (p.Pro354=) | |
| 7 | g.117540200C>G | CA368978552 | CFTR | c.970C>G (p.Pro324Ala) c.*867C>G (n.*867C>G) c.*794C>G (n.*794C>G) c.727C>G (p.Pro243Ala) c.880C>G (p.Pro294Ala) c.1060C>G (p.Pro354Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540200C>T | CA164953594 | CFTR | c.970C>T (p.Pro324Ser) c.*867C>T (n.*867C>T) c.*794C>T (n.*794C>T) c.727C>T (p.Pro243Ser) c.880C>T (p.Pro294Ser) c.1060C>T (p.Pro354Ser) | dbSNP COSMIC |
| 7 | g.117540202del | CA2580076450 | CFTR | c.972del (p.Tyr325MetfsTer3) c.*869del (n.*869del) c.*796del (n.*796del) c.729del (p.Tyr244MetfsTer3) c.882del (p.Tyr295MetfsTer3) c.1062del (p.Tyr355MetfsTer3) | ClinVar |
| 7 | g.117540201C>A | CA368978554 | CFTR | c.971C>A (p.Pro324His) c.*868C>A (n.*868C>A) c.*795C>A (n.*795C>A) c.728C>A (p.Pro243His) c.881C>A (p.Pro294His) c.1061C>A (p.Pro354His) | |
| 7 | g.117540201C= | CA1737332003 | CFTR | c.971C= (p.Pro324=) c.*868C= (n.*868C=) c.*795C= (n.*795C=) c.728C= (p.Pro243=) c.881C= (p.Pro294=) c.1061C= (p.Pro354=) | |
| 7 | g.117540201C>G | CA368978556 | CFTR | c.971C>G (p.Pro324Arg) c.*868C>G (n.*868C>G) c.*795C>G (n.*795C>G) c.728C>G (p.Pro243Arg) c.881C>G (p.Pro294Arg) c.1061C>G (p.Pro354Arg) | |
| 7 | g.117540201C>T | CA327705 | CFTR | c.971C>T (p.Pro324Leu) c.*868C>T (n.*868C>T) c.*795C>T (n.*795C>T) c.728C>T (p.Pro243Leu) c.881C>T (p.Pro294Leu) c.1061C>T (p.Pro354Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540202C>A | CA457448663 | CFTR | c.972C>A (p.Pro324=) c.*869C>A (n.*869C>A) c.*796C>A (n.*796C>A) c.729C>A (p.Pro243=) c.882C>A (p.Pro294=) c.1062C>A (p.Pro354=) | |
| 7 | g.117540202C= | CA1737332010 | CFTR | c.972C= (p.Pro324=) c.*869C= (n.*869C=) c.*796C= (n.*796C=) c.729C= (p.Pro243=) c.882C= (p.Pro294=) c.1062C= (p.Pro354=) | |
| 7 | g.117540202C>G | CA4450872 | CFTR | c.972C>G (p.Pro324=) c.*869C>G (n.*869C>G) c.*796C>G (n.*796C>G) c.729C>G (p.Pro243=) c.882C>G (p.Pro294=) c.1062C>G (p.Pro354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540202C>T | CA457448664 | CFTR | c.972C>T (p.Pro324=) c.*869C>T (n.*869C>T) c.*796C>T (n.*796C>T) c.729C>T (p.Pro243=) c.882C>T (p.Pro294=) c.1062C>T (p.Pro354=) | |
| 7 | g.117540203T>A | CA368978567 | CFTR | c.973T>A (p.Tyr325Asn) c.*870T>A (n.*870T>A) c.*797T>A (n.*797T>A) c.730T>A (p.Tyr244Asn) c.883T>A (p.Tyr295Asn) c.1063T>A (p.Tyr355Asn) | |
| 7 | g.117540203T>C | CA368978561 | CFTR | c.973T>C (p.Tyr325His) c.*870T>C (n.*870T>C) c.*797T>C (n.*797T>C) c.730T>C (p.Tyr244His) c.883T>C (p.Tyr295His) c.1063T>C (p.Tyr355His) | |
| 7 | g.117540203T>G | CA368978566 | CFTR | c.973T>G (p.Tyr325Asp) c.*870T>G (n.*870T>G) c.*797T>G (n.*797T>G) c.730T>G (p.Tyr244Asp) c.883T>G (p.Tyr295Asp) c.1063T>G (p.Tyr355Asp) | |
| 7 | g.117540204A= | CA1737332019 | CFTR | c.974A= (p.Tyr325=) c.*871A= (n.*871A=) c.*798A= (n.*798A=) c.731A= (p.Tyr244=) c.884A= (p.Tyr295=) c.1064A= (p.Tyr355=) | |
| 7 | g.117540204A>C | CA368978568 | CFTR | c.974A>C (p.Tyr325Ser) c.*871A>C (n.*871A>C) c.*798A>C (n.*798A>C) c.731A>C (p.Tyr244Ser) c.884A>C (p.Tyr295Ser) c.1064A>C (p.Tyr355Ser) | |
| 7 | g.117540204A>G | CA4450873 | CFTR | c.974A>G (p.Tyr325Cys) c.*871A>G (n.*871A>G) c.*798A>G (n.*798A>G) c.731A>G (p.Tyr244Cys) c.884A>G (p.Tyr295Cys) c.1064A>G (p.Tyr355Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540204A>T | CA368978578 | CFTR | c.974A>T (p.Tyr325Phe) c.*871A>T (n.*871A>T) c.*798A>T (n.*798A>T) c.731A>T (p.Tyr244Phe) c.884A>T (p.Tyr295Phe) c.1064A>T (p.Tyr355Phe) | |
| 7 | g.117540205T>A | CA368978581 | CFTR | c.975T>A (p.Tyr325Ter) c.*872T>A (n.*872T>A) c.*799T>A (n.*799T>A) c.732T>A (p.Tyr244Ter) c.885T>A (p.Tyr295Ter) c.1065T>A (p.Tyr355Ter) | |
| 7 | g.117540205T>C | CA457448668 | CFTR | c.975T>C (p.Tyr325=) c.*872T>C (n.*872T>C) c.*799T>C (n.*799T>C) c.732T>C (p.Tyr244=) c.885T>C (p.Tyr295=) c.1065T>C (p.Tyr355=) | |
| 7 | g.117540205T>G | CA368978586 | CFTR | c.975T>G (p.Tyr325Ter) c.*872T>G (n.*872T>G) c.*799T>G (n.*799T>G) c.732T>G (p.Tyr244Ter) c.885T>G (p.Tyr295Ter) c.1065T>G (p.Tyr355Ter) | |
| 7 | g.117540206G>A | CA368978589 | CFTR | c.976G>A (p.Ala326Thr) c.*873G>A (n.*873G>A) c.*800G>A (n.*800G>A) c.733G>A (p.Ala245Thr) c.886G>A (p.Ala296Thr) c.1066G>A (p.Ala356Thr) | |
| 7 | g.117540206G>C | CA368978590 | CFTR | c.976G>C (p.Ala326Pro) c.*873G>C (n.*873G>C) c.*800G>C (n.*800G>C) c.733G>C (p.Ala245Pro) c.886G>C (p.Ala296Pro) c.1066G>C (p.Ala356Pro) |