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.117540165_117540167dup | CA1737331881 | CFTR | c.935_937dup (p.Phe312_Ser313insPhe) c.*832_*834dup (n.*832_*834dup) c.*759_*761dup (n.*759_*761dup) c.692_694dup (p.Phe231_Ser232insPhe) c.845_847dup (p.Phe282_Ser283insPhe) c.1025_1027dup (p.Phe342_Ser343insPhe) | dbSNP |
| 7 | g.117540165_117540167del | CA221037 | CFTR | c.935_937del (p.Phe312del) c.*832_*834del (n.*832_*834del) c.*759_*761del (n.*759_*761del) c.692_694del (p.Phe231del) c.845_847del (p.Phe282del) c.1025_1027del (p.Phe342del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540167T>A | CA368978343 | CFTR | c.937T>A (p.Ser313Thr) c.*834T>A (n.*834T>A) c.*761T>A (n.*761T>A) c.694T>A (p.Ser232Thr) c.847T>A (p.Ser283Thr) c.1027T>A (p.Ser343Thr) | |
| 7 | g.117540167T>C | CA368978344 | CFTR | c.937T>C (p.Ser313Pro) c.*834T>C (n.*834T>C) c.*761T>C (n.*761T>C) c.694T>C (p.Ser232Pro) c.847T>C (p.Ser283Pro) c.1027T>C (p.Ser343Pro) | gnomAD v4 |
| 7 | g.117540167T>G | CA368978345 | CFTR | c.937T>G (p.Ser313Ala) c.*834T>G (n.*834T>G) c.*761T>G (n.*761T>G) c.694T>G (p.Ser232Ala) c.847T>G (p.Ser283Ala) c.1027T>G (p.Ser343Ala) | |
| 7 | g.117540168C>A | CA368978351 | CFTR | c.938C>A (p.Ser313Ter) c.*835C>A (n.*835C>A) c.*762C>A (n.*762C>A) c.695C>A (p.Ser232Ter) c.848C>A (p.Ser283Ter) c.1028C>A (p.Ser343Ter) | |
| 7 | g.117540168C>G | CA368978349 | CFTR | c.938C>G (p.Ser313Ter) c.*835C>G (n.*835C>G) c.*762C>G (n.*762C>G) c.695C>G (p.Ser232Ter) c.848C>G (p.Ser283Ter) c.1028C>G (p.Ser343Ter) | |
| 7 | g.117540168C>T | CA368978348 | CFTR | c.938C>T (p.Ser313Leu) c.*835C>T (n.*835C>T) c.*762C>T (n.*762C>T) c.695C>T (p.Ser232Leu) c.848C>T (p.Ser283Leu) c.1028C>T (p.Ser343Leu) | |
| 7 | g.117540169A= | CA1737331902 | CFTR | c.939A= (p.Ser313=) c.*836A= (n.*836A=) c.*763A= (n.*763A=) c.696A= (p.Ser232=) c.849A= (p.Ser283=) c.1029A= (p.Ser343=) | |
| 7 | g.117540169A>C | CA457448617 | CFTR | c.939A>C (p.Ser313=) c.*836A>C (n.*836A>C) c.*763A>C (n.*763A>C) c.696A>C (p.Ser232=) c.849A>C (p.Ser283=) c.1029A>C (p.Ser343=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540169A>G | CA4450867 | CFTR | c.939A>G (p.Ser313=) c.*836A>G (n.*836A>G) c.*763A>G (n.*763A>G) c.696A>G (p.Ser232=) c.849A>G (p.Ser283=) c.1029A>G (p.Ser343=) | dbSNP ExAC |
| 7 | g.117540169A>T | CA457448620 | CFTR | c.939A>T (p.Ser313=) c.*836A>T (n.*836A>T) c.*763A>T (n.*763A>T) c.696A>T (p.Ser232=) c.849A>T (p.Ser283=) c.1029A>T (p.Ser343=) | |
| 7 | g.117540170G>A | CA368978359 | CFTR | c.940G>A (p.Gly314Arg) c.*837G>A (n.*837G>A) c.*764G>A (n.*764G>A) c.697G>A (p.Gly233Arg) c.850G>A (p.Gly284Arg) c.1030G>A (p.Gly344Arg) | |
| 7 | g.117540170G>C | CA327695 | CFTR | c.940G>C (p.Gly314Arg) c.*837G>C (n.*837G>C) c.*764G>C (n.*764G>C) c.697G>C (p.Gly233Arg) c.850G>C (p.Gly284Arg) c.1030G>C (p.Gly344Arg) | ClinVar dbSNP |
| 7 | g.117540170G= | CA1737331904 | CFTR | c.940G= (p.Gly314=) c.*837G= (n.*837G=) c.*764G= (n.*764G=) c.697G= (p.Gly233=) c.850G= (p.Gly284=) c.1030G= (p.Gly344=) | |
| 7 | g.117540170G>T | CA368978360 | CFTR | c.940G>T (p.Gly314Trp) c.*837G>T (n.*837G>T) c.*764G>T (n.*764G>T) c.697G>T (p.Gly233Trp) c.850G>T (p.Gly284Trp) c.1030G>T (p.Gly344Trp) | ClinVar dbSNP |
| 7 | g.117540171G>A | CA327696 | CFTR | c.941G>A (p.Gly314Glu) c.*838G>A (n.*838G>A) c.*765G>A (n.*765G>A) c.698G>A (p.Gly233Glu) c.851G>A (p.Gly284Glu) c.1031G>A (p.Gly344Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540171G>C | CA368978366 | CFTR | c.941G>C (p.Gly314Ala) c.*838G>C (n.*838G>C) c.*765G>C (n.*765G>C) c.698G>C (p.Gly233Ala) c.851G>C (p.Gly284Ala) c.1031G>C (p.Gly344Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540171G= | CA1737331911 | CFTR | c.941G= (p.Gly314=) c.*838G= (n.*838G=) c.*765G= (n.*765G=) c.698G= (p.Gly233=) c.851G= (p.Gly284=) c.1031G= (p.Gly344=) | |
| 7 | g.117540171G>T | CA327697 | CFTR | c.941G>T (p.Gly314Val) c.*838G>T (n.*838G>T) c.*765G>T (n.*765G>T) c.698G>T (p.Gly233Val) c.851G>T (p.Gly284Val) c.1031G>T (p.Gly344Val) | ClinVar dbSNP |
| 7 | g.117540172G>A | CA457448623 | CFTR | c.942G>A (p.Gly314=) c.*839G>A (n.*839G>A) c.*766G>A (n.*766G>A) c.699G>A (p.Gly233=) c.852G>A (p.Gly284=) c.1032G>A (p.Gly344=) | |
| 7 | g.117540172G>C | CA457448625 | CFTR | c.942G>C (p.Gly314=) c.*839G>C (n.*839G>C) c.*766G>C (n.*766G>C) c.699G>C (p.Gly233=) c.852G>C (p.Gly284=) c.1032G>C (p.Gly344=) | |
| 7 | g.117540172G= | CA1737331917 | CFTR | c.942G= (p.Gly314=) c.*839G= (n.*839G=) c.*766G= (n.*766G=) c.699G= (p.Gly233=) c.852G= (p.Gly284=) c.1032G= (p.Gly344=) | |
| 7 | g.117540172G>T | CA457448626 | CFTR | c.942G>T (p.Gly314=) c.*839G>T (n.*839G>T) c.*766G>T (n.*766G>T) c.699G>T (p.Gly233=) c.852G>T (p.Gly284=) c.1032G>T (p.Gly344=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540173T>A | CA368978379 | CFTR | c.943T>A (p.Phe315Ile) c.*840T>A (n.*840T>A) c.*767T>A (n.*767T>A) c.700T>A (p.Phe234Ile) c.853T>A (p.Phe285Ile) c.1033T>A (p.Phe345Ile) | |
| 7 | g.117540173T>C | CA368978381 | CFTR | c.943T>C (p.Phe315Leu) c.*840T>C (n.*840T>C) c.*767T>C (n.*767T>C) c.700T>C (p.Phe234Leu) c.853T>C (p.Phe285Leu) c.1033T>C (p.Phe345Leu) | |
| 7 | g.117540173T>G | CA368978384 | CFTR | c.943T>G (p.Phe315Val) c.*840T>G (n.*840T>G) c.*767T>G (n.*767T>G) c.700T>G (p.Phe234Val) c.853T>G (p.Phe285Val) c.1033T>G (p.Phe345Val) | |
| 7 | g.117540174T>A | CA368978388 | CFTR | c.944T>A (p.Phe315Tyr) c.*841T>A (n.*841T>A) c.*768T>A (n.*768T>A) c.701T>A (p.Phe234Tyr) c.854T>A (p.Phe285Tyr) c.1034T>A (p.Phe345Tyr) | |
| 7 | g.117540174T>C | CA4450868 | CFTR | c.944T>C (p.Phe315Ser) c.*841T>C (n.*841T>C) c.*768T>C (n.*768T>C) c.701T>C (p.Phe234Ser) c.854T>C (p.Phe285Ser) c.1034T>C (p.Phe345Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540174T>G | CA368978393 | CFTR | c.944T>G (p.Phe315Cys) c.*841T>G (n.*841T>G) c.*768T>G (n.*768T>G) c.701T>G (p.Phe234Cys) c.854T>G (p.Phe285Cys) c.1034T>G (p.Phe345Cys) | ClinVar |
| 7 | g.117540174T= | CA1737331919 | CFTR | c.944T= (p.Phe315=) c.*841T= (n.*841T=) c.*768T= (n.*768T=) c.701T= (p.Phe234=) c.854T= (p.Phe285=) c.1034T= (p.Phe345=) | |
| 7 | g.117540175C>A | CA368978399 | CFTR | c.945C>A (p.Phe315Leu) c.*842C>A (n.*842C>A) c.*769C>A (n.*769C>A) c.702C>A (p.Phe234Leu) c.855C>A (p.Phe285Leu) c.1035C>A (p.Phe345Leu) | |
| 7 | g.117540175C= | CA1737331925 | CFTR | c.945C= (p.Phe315=) c.*842C= (n.*842C=) c.*769C= (n.*769C=) c.702C= (p.Phe234=) c.855C= (p.Phe285=) c.1035C= (p.Phe345=) | |
| 7 | g.117540175C>G | CA368978397 | CFTR | c.945C>G (p.Phe315Leu) c.*842C>G (n.*842C>G) c.*769C>G (n.*769C>G) c.702C>G (p.Phe234Leu) c.855C>G (p.Phe285Leu) c.1035C>G (p.Phe345Leu) | dbSNP |
| 7 | g.117540175C>T | CA457448629 | CFTR | c.945C>T (p.Phe315=) c.*842C>T (n.*842C>T) c.*769C>T (n.*769C>T) c.702C>T (p.Phe234=) c.855C>T (p.Phe285=) c.1035C>T (p.Phe345=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117540175_117540176delinsCT | CA1737331923 | CFTR | c.945_946delinsCT (p.Phe315=) c.*842_*843delinsCT (n.*842_*843delinsCT) c.*769_*770delinsCT (n.*769_*770delinsCT) c.702_703delinsCT (p.Phe234=) c.855_856delinsCT (p.Phe285=) c.1035_1036delinsCT (p.Phe345=) | |
| 7 | g.117540176T>A | CA368978421 | CFTR | c.946T>A (p.Phe316Ile) c.*843T>A (n.*843T>A) c.*770T>A (n.*770T>A) c.703T>A (p.Phe235Ile) c.856T>A (p.Phe286Ile) c.1036T>A (p.Phe346Ile) | |
| 7 | g.117540176T>C | CA368978420 | CFTR | c.946T>C (p.Phe316Leu) c.*843T>C (n.*843T>C) c.*770T>C (n.*770T>C) c.703T>C (p.Phe235Leu) c.856T>C (p.Phe286Leu) c.1036T>C (p.Phe346Leu) | |
| 7 | g.117540176T>G | CA368978419 | CFTR | c.946T>G (p.Phe316Val) c.*843T>G (n.*843T>G) c.*770T>G (n.*770T>G) c.703T>G (p.Phe235Val) c.856T>G (p.Phe286Val) c.1036T>G (p.Phe346Val) | |
| 7 | g.117540178dup | CA164953544 | CFTR | c.948dup (p.Val317CysfsTer?) c.*845dup (n.*845dup) c.*772dup (n.*772dup) c.705dup (p.Val236CysfsTer?) c.858dup (p.Val287CysfsTer?) c.1038dup (p.Val347CysfsTer?) | ClinVar |
| 7 | g.117540178del | CA221039 | CFTR | c.948del (p.Phe316LeufsTer12) c.*845del (n.*845del) c.*772del (n.*772del) c.705del (p.Phe235LeufsTer12) c.858del (p.Phe286LeufsTer12) c.1038del (p.Phe346LeufsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540177T>A | CA368978423 | CFTR | c.947T>A (p.Phe316Tyr) c.*844T>A (n.*844T>A) c.*771T>A (n.*771T>A) c.704T>A (p.Phe235Tyr) c.857T>A (p.Phe286Tyr) c.1037T>A (p.Phe346Tyr) | ClinVar dbSNP |
| 7 | g.117540177T>C | CA164953556 | CFTR | c.947T>C (p.Phe316Ser) c.*844T>C (n.*844T>C) c.*771T>C (n.*771T>C) c.704T>C (p.Phe235Ser) c.857T>C (p.Phe286Ser) c.1037T>C (p.Phe346Ser) | ClinVar dbSNP |
| 7 | g.117540177T>G | CA368978425 | CFTR | c.947T>G (p.Phe316Cys) c.*844T>G (n.*844T>G) c.*771T>G (n.*771T>G) c.704T>G (p.Phe235Cys) c.857T>G (p.Phe286Cys) c.1037T>G (p.Phe346Cys) | |
| 7 | g.117540177T= | CA1737331933 | CFTR | c.947T= (p.Phe316=) c.*844T= (n.*844T=) c.*771T= (n.*771T=) c.704T= (p.Phe235=) c.857T= (p.Phe286=) c.1037T= (p.Phe346=) | |
| 7 | g.117540178T>A | CA368978427 | CFTR | c.948T>A (p.Phe316Leu) c.*845T>A (n.*845T>A) c.*772T>A (n.*772T>A) c.705T>A (p.Phe235Leu) c.858T>A (p.Phe286Leu) c.1038T>A (p.Phe346Leu) | |
| 7 | g.117540178T>C | CA457448630 | CFTR | c.948T>C (p.Phe316=) c.*845T>C (n.*845T>C) c.*772T>C (n.*772T>C) c.705T>C (p.Phe235=) c.858T>C (p.Phe286=) c.1038T>C (p.Phe346=) | |
| 7 | g.117540178T>G | CA10603955 | CFTR | c.948T>G (p.Phe316Leu) c.*845T>G (n.*845T>G) c.*772T>G (n.*772T>G) c.705T>G (p.Phe235Leu) c.858T>G (p.Phe286Leu) c.1038T>G (p.Phe346Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |