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.117535268_117535269delinsCG | CA1737362119 | CFTR | c.600_601delinsCG (p.Phe200=) c.*497_*498delinsCG (n.*497_*498delinsCG) c.*424_*425delinsCG (n.*424_*425delinsCG) c.357_358delinsCG (p.Phe119=) c.510_511delinsCG (p.Phe170=) c.690_691delinsCG (p.Phe230=) | |
| 7 | g.117535269del | CA327596 | CFTR | c.601del (p.Val201CysfsTer14) c.*498del (n.*498del) c.*425del (n.*425del) c.358del (p.Val120CysfsTer14) c.511del (p.Val171CysfsTer14) c.691del (p.Val231CysfsTer14) | ClinVar dbSNP |
| 7 | g.117535269G>A | CA327594 | CFTR | c.601G>A (p.Val201Met) c.*498G>A (n.*498G>A) c.*425G>A (n.*425G>A) c.358G>A (p.Val120Met) c.511G>A (p.Val171Met) c.691G>A (p.Val231Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535269G>C | CA368976774 | CFTR | c.601G>C (p.Val201Leu) c.*498G>C (n.*498G>C) c.*425G>C (n.*425G>C) c.358G>C (p.Val120Leu) c.511G>C (p.Val171Leu) c.691G>C (p.Val231Leu) | gnomAD v4 |
| 7 | g.117535269G= | CA1737362121 | CFTR | c.601G= (p.Val201=) c.*498G= (n.*498G=) c.*425G= (n.*425G=) c.358G= (p.Val120=) c.511G= (p.Val171=) c.691G= (p.Val231=) | |
| 7 | g.117535269G>T | CA368976776 | CFTR | c.601G>T (p.Val201Leu) c.*498G>T (n.*498G>T) c.*425G>T (n.*425G>T) c.358G>T (p.Val120Leu) c.511G>T (p.Val171Leu) c.691G>T (p.Val231Leu) | |
| 7 | g.117535270T>A | CA368976779 | CFTR | c.602T>A (p.Val201Glu) c.*499T>A (n.*499T>A) c.*426T>A (n.*426T>A) c.359T>A (p.Val120Glu) c.512T>A (p.Val171Glu) c.692T>A (p.Val231Glu) | |
| 7 | g.117535270T>C | CA368976781 | CFTR | c.602T>C (p.Val201Ala) c.*499T>C (n.*499T>C) c.*426T>C (n.*426T>C) c.359T>C (p.Val120Ala) c.512T>C (p.Val171Ala) c.692T>C (p.Val231Ala) | |
| 7 | g.117535270T>G | CA368976783 | CFTR | c.602T>G (p.Val201Gly) c.*499T>G (n.*499T>G) c.*426T>G (n.*426T>G) c.359T>G (p.Val120Gly) c.512T>G (p.Val171Gly) c.692T>G (p.Val231Gly) | |
| 7 | g.117535271G>A | CA164945477 | CFTR | c.603G>A (p.Val201=) c.*500G>A (n.*500G>A) c.*427G>A (n.*427G>A) c.360G>A (p.Val120=) c.513G>A (p.Val171=) c.693G>A (p.Val231=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535271G>C | CA457227110 | CFTR | c.603G>C (p.Val201=) c.*500G>C (n.*500G>C) c.*427G>C (n.*427G>C) c.360G>C (p.Val120=) c.513G>C (p.Val171=) c.693G>C (p.Val231=) | |
| 7 | g.117535271G= | CA1737362122 | CFTR | c.603G= (p.Val201=) c.*500G= (n.*500G=) c.*427G= (n.*427G=) c.360G= (p.Val120=) c.513G= (p.Val171=) c.693G= (p.Val231=) | |
| 7 | g.117535271G>T | CA457227109 | CFTR | c.603G>T (p.Val201=) c.*500G>T (n.*500G>T) c.*427G>T (n.*427G>T) c.360G>T (p.Val120=) c.513G>T (p.Val171=) c.693G>T (p.Val231=) | |
| 7 | g.117535272T>A | CA368976789 | CFTR | c.604T>A (p.Trp202Arg) c.*501T>A (n.*501T>A) c.*428T>A (n.*428T>A) c.361T>A (p.Trp121Arg) c.514T>A (p.Trp172Arg) c.694T>A (p.Trp232Arg) | |
| 7 | g.117535272T>C | CA368976785 | CFTR | c.604T>C (p.Trp202Arg) c.*501T>C (n.*501T>C) c.*428T>C (n.*428T>C) c.361T>C (p.Trp121Arg) c.514T>C (p.Trp172Arg) c.694T>C (p.Trp232Arg) | |
| 7 | g.117535272T>G | CA368976787 | CFTR | c.604T>G (p.Trp202Gly) c.*501T>G (n.*501T>G) c.*428T>G (n.*428T>G) c.361T>G (p.Trp121Gly) c.514T>G (p.Trp172Gly) c.694T>G (p.Trp232Gly) | |
| 7 | g.117535273G>A | CA368976792 | CFTR | c.605G>A (p.Trp202Ter) c.*502G>A (n.*502G>A) c.*429G>A (n.*429G>A) c.362G>A (p.Trp121Ter) c.515G>A (p.Trp172Ter) c.695G>A (p.Trp232Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535273G>C | CA368976794 | CFTR | c.605G>C (p.Trp202Ser) c.*502G>C (n.*502G>C) c.*429G>C (n.*429G>C) c.362G>C (p.Trp121Ser) c.515G>C (p.Trp172Ser) c.695G>C (p.Trp232Ser) | |
| 7 | g.117535273G= | CA1737362123 | CFTR | c.605G= (p.Trp202=) c.*502G= (n.*502G=) c.*429G= (n.*429G=) c.362G= (p.Trp121=) c.515G= (p.Trp172=) c.695G= (p.Trp232=) | |
| 7 | g.117535273G>T | CA368976796 | CFTR | c.605G>T (p.Trp202Leu) c.*502G>T (n.*502G>T) c.*429G>T (n.*429G>T) c.362G>T (p.Trp121Leu) c.515G>T (p.Trp172Leu) c.695G>T (p.Trp232Leu) | |
| 7 | g.117535273_117535281del | CA645549558 | CFTR | c.605_613del (p.Trp202_Pro205delinsSer) c.*502_*510del (n.*502_*510del) c.*429_*437del (n.*429_*437del) c.362_370del (p.Trp121_Pro124delinsSer) c.515_523del (p.Trp172_Pro175delinsSer) c.695_703del (p.Trp232_Pro235delinsSer) | COSMIC |
| 7 | g.117535274G>A | CA327597 | CFTR | c.606G>A (p.Trp202Ter) c.*503G>A (n.*503G>A) c.*430G>A (n.*430G>A) c.363G>A (p.Trp121Ter) c.516G>A (p.Trp172Ter) c.696G>A (p.Trp232Ter) | ClinVar dbSNP |
| 7 | g.117535274G>C | CA368976798 | CFTR | c.606G>C (p.Trp202Cys) c.*503G>C (n.*503G>C) c.*430G>C (n.*430G>C) c.363G>C (p.Trp121Cys) c.516G>C (p.Trp172Cys) c.696G>C (p.Trp232Cys) | |
| 7 | g.117535274G= | CA1737362124 | CFTR | c.606G= (p.Trp202=) c.*503G= (n.*503G=) c.*430G= (n.*430G=) c.363G= (p.Trp121=) c.516G= (p.Trp172=) c.696G= (p.Trp232=) | |
| 7 | g.117535274G>T | CA368976799 | CFTR | c.606G>T (p.Trp202Cys) c.*503G>T (n.*503G>T) c.*430G>T (n.*430G>T) c.363G>T (p.Trp121Cys) c.516G>T (p.Trp172Cys) c.696G>T (p.Trp232Cys) | gnomAD v4 |
| 7 | g.117535275A>C | CA368976800 | CFTR | c.607A>C (p.Ile203Leu) c.*504A>C (n.*504A>C) c.*431A>C (n.*431A>C) c.364A>C (p.Ile122Leu) c.517A>C (p.Ile173Leu) c.697A>C (p.Ile233Leu) | |
| 7 | g.117535275A>G | CA368976803 | CFTR | c.607A>G (p.Ile203Val) c.*504A>G (n.*504A>G) c.*431A>G (n.*431A>G) c.364A>G (p.Ile122Val) c.517A>G (p.Ile173Val) c.697A>G (p.Ile233Val) | |
| 7 | g.117535275A>T | CA368976802 | CFTR | c.607A>T (p.Ile203Phe) c.*504A>T (n.*504A>T) c.*431A>T (n.*431A>T) c.364A>T (p.Ile122Phe) c.517A>T (p.Ile173Phe) c.697A>T (p.Ile233Phe) | |
| 7 | g.117535276T>A | CA368976805 | CFTR | c.608T>A (p.Ile203Asn) c.*505T>A (n.*505T>A) c.*432T>A (n.*432T>A) c.365T>A (p.Ile122Asn) c.518T>A (p.Ile173Asn) c.698T>A (p.Ile233Asn) | |
| 7 | g.117535276T>C | CA368976806 | CFTR | c.608T>C (p.Ile203Thr) c.*505T>C (n.*505T>C) c.*432T>C (n.*432T>C) c.365T>C (p.Ile122Thr) c.518T>C (p.Ile173Thr) c.698T>C (p.Ile233Thr) | |
| 7 | g.117535276T>G | CA368976808 | CFTR | c.608T>G (p.Ile203Ser) c.*505T>G (n.*505T>G) c.*432T>G (n.*432T>G) c.365T>G (p.Ile122Ser) c.518T>G (p.Ile173Ser) c.698T>G (p.Ile233Ser) | |
| 7 | g.117535277C>A | CA457227115 | CFTR | c.609C>A (p.Ile203=) c.*506C>A (n.*506C>A) c.*433C>A (n.*433C>A) c.366C>A (p.Ile122=) c.519C>A (p.Ile173=) c.699C>A (p.Ile233=) | ClinVar |
| 7 | g.117535277C= | CA1737362125 | CFTR | c.609C= (p.Ile203=) c.*506C= (n.*506C=) c.*433C= (n.*433C=) c.366C= (p.Ile122=) c.519C= (p.Ile173=) c.699C= (p.Ile233=) | |
| 7 | g.117535277C>G | CA327599 | CFTR | c.609C>G (p.Ile203Met) c.*506C>G (n.*506C>G) c.*433C>G (n.*433C>G) c.366C>G (p.Ile122Met) c.519C>G (p.Ile173Met) c.699C>G (p.Ile233Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535277C>T | CA4450782 | CFTR | c.609C>T (p.Ile203=) c.*506C>T (n.*506C>T) c.*433C>T (n.*433C>T) c.366C>T (p.Ile122=) c.519C>T (p.Ile173=) c.699C>T (p.Ile233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117535278G>A | CA4450783 | CFTR | c.610G>A (p.Ala204Thr) c.*507G>A (n.*507G>A) c.*434G>A (n.*434G>A) c.367G>A (p.Ala123Thr) c.520G>A (p.Ala174Thr) c.700G>A (p.Ala234Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535278G>C | CA368976812 | CFTR | c.610G>C (p.Ala204Pro) c.*507G>C (n.*507G>C) c.*434G>C (n.*434G>C) c.367G>C (p.Ala123Pro) c.520G>C (p.Ala174Pro) c.700G>C (p.Ala234Pro) | dbSNP gnomAD v4 |
| 7 | g.117535278G= | CA1737362126 | CFTR | c.610G= (p.Ala204=) c.*507G= (n.*507G=) c.*434G= (n.*434G=) c.367G= (p.Ala123=) c.520G= (p.Ala174=) c.700G= (p.Ala234=) | |
| 7 | g.117535278G>T | CA368976813 | CFTR | c.610G>T (p.Ala204Ser) c.*507G>T (n.*507G>T) c.*434G>T (n.*434G>T) c.367G>T (p.Ala123Ser) c.520G>T (p.Ala174Ser) c.700G>T (p.Ala234Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535279C>A | CA368976815 | CFTR | c.611C>A (p.Ala204Asp) c.*508C>A (n.*508C>A) c.*435C>A (n.*435C>A) c.368C>A (p.Ala123Asp) c.521C>A (p.Ala174Asp) c.701C>A (p.Ala234Asp) | |
| 7 | g.117535279C>G | CA368976816 | CFTR | c.611C>G (p.Ala204Gly) c.*508C>G (n.*508C>G) c.*435C>G (n.*435C>G) c.368C>G (p.Ala123Gly) c.521C>G (p.Ala174Gly) c.701C>G (p.Ala234Gly) | |
| 7 | g.117535279C>T | CA368976818 | CFTR | c.611C>T (p.Ala204Val) c.*508C>T (n.*508C>T) c.*435C>T (n.*435C>T) c.368C>T (p.Ala123Val) c.521C>T (p.Ala174Val) c.701C>T (p.Ala234Val) | gnomAD v4 |
| 7 | g.117535281_117538553del | CA2580076362 | CFTR | c.613_870-1547del c.*510_*767-1547del c.*437_*694-1547del c.370_627-1547del c.523_780-1547del c.703_960-1547del | ClinVar |
| 7 | g.117535280T>A | CA457227118 | CFTR | c.612T>A (p.Ala204=) c.*509T>A (n.*509T>A) c.*436T>A (n.*436T>A) c.369T>A (p.Ala123=) c.522T>A (p.Ala174=) c.702T>A (p.Ala234=) | |
| 7 | g.117535280T>C | CA457227119 | CFTR | c.612T>C (p.Ala204=) c.*509T>C (n.*509T>C) c.*436T>C (n.*436T>C) c.369T>C (p.Ala123=) c.522T>C (p.Ala174=) c.702T>C (p.Ala234=) | |
| 7 | g.117535280T>G | CA4450784 | CFTR | c.612T>G (p.Ala204=) c.*509T>G (n.*509T>G) c.*436T>G (n.*436T>G) c.369T>G (p.Ala123=) c.522T>G (p.Ala174=) c.702T>G (p.Ala234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535280T= | CA1737362127 | CFTR | c.612T= (p.Ala204=) c.*509T= (n.*509T=) c.*436T= (n.*436T=) c.369T= (p.Ala123=) c.522T= (p.Ala174=) c.702T= (p.Ala234=) | |
| 7 | g.117535281C>A | CA368976821 | CFTR | c.613C>A (p.Pro205Thr) c.*510C>A (n.*510C>A) c.*437C>A (n.*437C>A) c.370C>A (p.Pro124Thr) c.523C>A (p.Pro175Thr) c.703C>A (p.Pro235Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535281C= | CA1737362128 | CFTR | c.613C= (p.Pro205=) c.*510C= (n.*510C=) c.*437C= (n.*437C=) c.370C= (p.Pro124=) c.523C= (p.Pro175=) c.703C= (p.Pro235=) | |
| 7 | g.117535281C>G | CA368976824 | CFTR | c.613C>G (p.Pro205Ala) c.*510C>G (n.*510C>G) c.*437C>G (n.*437C>G) c.370C>G (p.Pro124Ala) c.523C>G (p.Pro175Ala) c.703C>G (p.Pro235Ala) |