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.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.117536640_117536642del | CA327665 | CFTR | c.836_838del (p.Glu279del) c.*733_*735del (n.*733_*735del) c.*660_*662del (n.*660_*662del) c.593_595del (p.Glu198del) c.746_748del (p.Glu249del) c.926_928del (p.Glu309del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536641A= | CA1737327323 | CFTR | c.837A= (p.Glu279=) c.*734A= (n.*734A=) c.*661A= (n.*661A=) c.594A= (p.Glu198=) c.747A= (p.Glu249=) c.927A= (p.Glu309=) | |
| 7 | g.117536641A>C | CA368977521 | CFTR | c.837A>C (p.Glu279Asp) c.*734A>C (n.*734A>C) c.*661A>C (n.*661A>C) c.594A>C (p.Glu198Asp) c.747A>C (p.Glu249Asp) c.927A>C (p.Glu309Asp) | |
| 7 | g.117536641A>G | CA457227417 | CFTR | c.837A>G (p.Glu279=) c.*734A>G (n.*734A>G) c.*661A>G (n.*661A>G) c.594A>G (p.Glu198=) c.747A>G (p.Glu249=) c.927A>G (p.Glu309=) | |
| 7 | g.117536641A>T | CA4450839 | CFTR | c.837A>T (p.Glu279Asp) c.*734A>T (n.*734A>T) c.*661A>T (n.*661A>T) c.594A>T (p.Glu198Asp) c.747A>T (p.Glu249Asp) c.927A>T (p.Glu309Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536642G>A | CA368977522 | CFTR | c.838G>A (p.Ala280Thr) c.*735G>A (n.*735G>A) c.*662G>A (n.*662G>A) c.595G>A (p.Ala199Thr) c.748G>A (p.Ala250Thr) c.928G>A (p.Ala310Thr) | ClinVar dbSNP |
| 7 | g.117536642G>C | CA368977523 | CFTR | c.838G>C (p.Ala280Pro) c.*735G>C (n.*735G>C) c.*662G>C (n.*662G>C) c.595G>C (p.Ala199Pro) c.748G>C (p.Ala250Pro) c.928G>C (p.Ala310Pro) | |
| 7 | g.117536642G= | CA1737327329 | CFTR | c.838G= (p.Ala280=) c.*735G= (n.*735G=) c.*662G= (n.*662G=) c.595G= (p.Ala199=) c.748G= (p.Ala250=) c.928G= (p.Ala310=) | |
| 7 | g.117536642G>T | CA4450840 | CFTR | c.838G>T (p.Ala280Ser) c.*735G>T (n.*735G>T) c.*662G>T (n.*662G>T) c.595G>T (p.Ala199Ser) c.748G>T (p.Ala250Ser) c.928G>T (p.Ala310Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536643C>A | CA368977524 | CFTR | c.839C>A (p.Ala280Glu) c.*736C>A (n.*736C>A) c.*663C>A (n.*663C>A) c.596C>A (p.Ala199Glu) c.749C>A (p.Ala250Glu) c.929C>A (p.Ala310Glu) | |
| 7 | g.117536643C>G | CA368977525 | CFTR | c.839C>G (p.Ala280Gly) c.*736C>G (n.*736C>G) c.*663C>G (n.*663C>G) c.596C>G (p.Ala199Gly) c.749C>G (p.Ala250Gly) c.929C>G (p.Ala310Gly) | ClinVar gnomAD v4 |
| 7 | g.117536643C>T | CA368977526 | CFTR | c.839C>T (p.Ala280Val) c.*736C>T (n.*736C>T) c.*663C>T (n.*663C>T) c.596C>T (p.Ala199Val) c.749C>T (p.Ala250Val) c.929C>T (p.Ala310Val) | |
| 7 | g.117536644A>C | CA457227423 | CFTR | c.840A>C (p.Ala280=) c.*737A>C (n.*737A>C) c.*664A>C (n.*664A>C) c.597A>C (p.Ala199=) c.750A>C (p.Ala250=) c.930A>C (p.Ala310=) | |
| 7 | g.117536644A>G | CA457227420 | CFTR | c.840A>G (p.Ala280=) c.*737A>G (n.*737A>G) c.*664A>G (n.*664A>G) c.597A>G (p.Ala199=) c.750A>G (p.Ala250=) c.930A>G (p.Ala310=) | |
| 7 | g.117536644A>T | CA457227421 | CFTR | c.840A>T (p.Ala280=) c.*737A>T (n.*737A>T) c.*664A>T (n.*664A>T) c.597A>T (p.Ala199=) c.750A>T (p.Ala250=) c.930A>T (p.Ala310=) | |
| 7 | g.117536645A= | CA1737327333 | CFTR | c.841A= (p.Met281=) c.*738A= (n.*738A=) c.*665A= (n.*665A=) c.598A= (p.Met200=) c.751A= (p.Met251=) c.931A= (p.Met311=) | |
| 7 | g.117536645A>C | CA368977527 | CFTR | c.841A>C (p.Met281Leu) c.*738A>C (n.*738A>C) c.*665A>C (n.*665A>C) c.598A>C (p.Met200Leu) c.751A>C (p.Met251Leu) c.931A>C (p.Met311Leu) | |
| 7 | g.117536645A>G | CA4450841 | CFTR | c.841A>G (p.Met281Val) c.*738A>G (n.*738A>G) c.*665A>G (n.*665A>G) c.598A>G (p.Met200Val) c.751A>G (p.Met251Val) c.931A>G (p.Met311Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536645A>T | CA368977528 | CFTR | c.841A>T (p.Met281Leu) c.*738A>T (n.*738A>T) c.*665A>T (n.*665A>T) c.598A>T (p.Met200Leu) c.751A>T (p.Met251Leu) c.931A>T (p.Met311Leu) | |
| 7 | g.117536646T>A | CA368977529 | CFTR | c.842T>A (p.Met281Lys) c.*739T>A (n.*739T>A) c.*666T>A (n.*666T>A) c.599T>A (p.Met200Lys) c.752T>A (p.Met251Lys) c.932T>A (p.Met311Lys) | |
| 7 | g.117536646T>C | CA327667 | CFTR | c.842T>C (p.Met281Thr) c.*739T>C (n.*739T>C) c.*666T>C (n.*666T>C) c.599T>C (p.Met200Thr) c.752T>C (p.Met251Thr) c.932T>C (p.Met311Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536646T>G | CA368977530 | CFTR | c.842T>G (p.Met281Arg) c.*739T>G (n.*739T>G) c.*666T>G (n.*666T>G) c.599T>G (p.Met200Arg) c.752T>G (p.Met251Arg) c.932T>G (p.Met311Arg) | |
| 7 | g.117536646T= | CA1737327342 | CFTR | c.842T= (p.Met281=) c.*739T= (n.*739T=) c.*666T= (n.*666T=) c.599T= (p.Met200=) c.752T= (p.Met251=) c.932T= (p.Met311=) | |
| 7 | g.117536647G>A | CA368977531 | CFTR | c.843G>A (p.Met281Ile) c.*740G>A (n.*740G>A) c.*667G>A (n.*667G>A) c.600G>A (p.Met200Ile) c.753G>A (p.Met251Ile) c.933G>A (p.Met311Ile) | COSMIC |
| 7 | g.117536647G>C | CA368977533 | CFTR | c.843G>C (p.Met281Ile) c.*740G>C (n.*740G>C) c.*667G>C (n.*667G>C) c.600G>C (p.Met200Ile) c.753G>C (p.Met251Ile) c.933G>C (p.Met311Ile) | |
| 7 | g.117536647G>T | CA368977532 | CFTR | c.843G>T (p.Met281Ile) c.*740G>T (n.*740G>T) c.*667G>T (n.*667G>T) c.600G>T (p.Met200Ile) c.753G>T (p.Met251Ile) c.933G>T (p.Met311Ile) | |
| 7 | g.117536648G>A | CA368977534 | CFTR | c.844G>A (p.Glu282Lys) c.*741G>A (n.*741G>A) c.*668G>A (n.*668G>A) c.601G>A (p.Glu201Lys) c.754G>A (p.Glu252Lys) c.934G>A (p.Glu312Lys) | |
| 7 | g.117536648G>C | CA368977535 | CFTR | c.844G>C (p.Glu282Gln) c.*741G>C (n.*741G>C) c.*668G>C (n.*668G>C) c.601G>C (p.Glu201Gln) c.754G>C (p.Glu252Gln) c.934G>C (p.Glu312Gln) | |
| 7 | g.117536648G= | CA1737327357 | CFTR | c.844G= (p.Glu282=) c.*741G= (n.*741G=) c.*668G= (n.*668G=) c.601G= (p.Glu201=) c.754G= (p.Glu252=) c.934G= (p.Glu312=) | |
| 7 | g.117536648G>T | CA368977536 | CFTR | c.844G>T (p.Glu282Ter) c.*741G>T (n.*741G>T) c.*668G>T (n.*668G>T) c.601G>T (p.Glu201Ter) c.754G>T (p.Glu252Ter) c.934G>T (p.Glu312Ter) | ClinVar dbSNP |
| 7 | g.117536648_117536649delinsGA | CA1737327352 | CFTR | c.844_845delinsGA (p.Glu282=) c.*741_*742delinsGA (n.*741_*742delinsGA) c.*668_*669delinsGA (n.*668_*669delinsGA) c.601_602delinsGA (p.Glu201=) c.754_755delinsGA (p.Glu252=) c.934_935delinsGA (p.Glu312=) | |
| 7 | g.117536649A>C | CA368977537 | CFTR | c.845A>C (p.Glu282Ala) c.*742A>C (n.*742A>C) c.*669A>C (n.*669A>C) c.602A>C (p.Glu201Ala) c.755A>C (p.Glu252Ala) c.935A>C (p.Glu312Ala) | |
| 7 | g.117536649A>G | CA368977538 | CFTR | c.845A>G (p.Glu282Gly) c.*742A>G (n.*742A>G) c.*669A>G (n.*669A>G) c.602A>G (p.Glu201Gly) c.755A>G (p.Glu252Gly) c.935A>G (p.Glu312Gly) | |
| 7 | g.117536649A>T | CA368977539 | CFTR | c.845A>T (p.Glu282Val) c.*742A>T (n.*742A>T) c.*669A>T (n.*669A>T) c.602A>T (p.Glu201Val) c.755A>T (p.Glu252Val) c.935A>T (p.Glu312Val) | |
| 7 | g.117536654dup | CA274372 | CFTR | c.850dup (p.Met284AsnfsTer3) c.*747dup (n.*747dup) c.*674dup (n.*674dup) c.607dup (p.Met203AsnfsTer3) c.760dup (p.Met254AsnfsTer3) c.940dup (p.Met314AsnfsTer3) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536654del | CA577214276 | CFTR | c.850del (p.Met284Ter) c.*747del (n.*747del) c.*674del (n.*674del) c.607del (p.Met203Ter) c.760del (p.Met254Ter) c.940del (p.Met314Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536650A= | CA1737327374 | CFTR | c.846A= (p.Glu282=) c.*743A= (n.*743A=) c.*670A= (n.*670A=) c.603A= (p.Glu201=) c.756A= (p.Glu252=) c.936A= (p.Glu312=) | |
| 7 | g.117536650A>C | CA368977540 | CFTR | c.846A>C (p.Glu282Asp) c.*743A>C (n.*743A>C) c.*670A>C (n.*670A>C) c.603A>C (p.Glu201Asp) c.756A>C (p.Glu252Asp) c.936A>C (p.Glu312Asp) | |
| 7 | g.117536650A>G | CA457227431 | CFTR | c.846A>G (p.Glu282=) c.*743A>G (n.*743A>G) c.*670A>G (n.*670A>G) c.603A>G (p.Glu201=) c.756A>G (p.Glu252=) c.936A>G (p.Glu312=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536650A>T | CA260260 | CFTR | c.846A>T (p.Glu282Asp) c.*743A>T (n.*743A>T) c.*670A>T (n.*670A>T) c.603A>T (p.Glu201Asp) c.756A>T (p.Glu252Asp) c.936A>T (p.Glu312Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536651A>C | CA368977541 | CFTR | c.847A>C (p.Lys283Gln) c.*744A>C (n.*744A>C) c.*671A>C (n.*671A>C) c.604A>C (p.Lys202Gln) c.757A>C (p.Lys253Gln) c.937A>C (p.Lys313Gln) | |
| 7 | g.117536651A>G | CA368977542 | CFTR | c.847A>G (p.Lys283Glu) c.*744A>G (n.*744A>G) c.*671A>G (n.*671A>G) c.604A>G (p.Lys202Glu) c.757A>G (p.Lys253Glu) c.937A>G (p.Lys313Glu) | |
| 7 | g.117536651A>T | CA368977543 | CFTR | c.847A>T (p.Lys283Ter) c.*744A>T (n.*744A>T) c.*671A>T (n.*671A>T) c.604A>T (p.Lys202Ter) c.757A>T (p.Lys253Ter) c.937A>T (p.Lys313Ter) | |
| 7 | g.117536651_117536664delinsAAAATGATTGAAAA | CA1737327382 | CFTR | c.847_860delinsAAAATGATTGAAAA (p.Lys283=) c.*744_*757delinsAAAATGATTGAAAA (n.*744_*757delinsAAAATGATTGAAAA) c.*671_*684delinsAAAATGATTGAAAA (n.*671_*684delinsAAAATGATTGAAAA) c.604_617delinsAAAATGATTGAAAA (p.Lys202=) c.757_770delinsAAAATGATTGAAAA (p.Lys253=) c.937_950delinsAAAATGATTGAAAA (p.Lys313=) | |
| 7 | g.117536652A= | CA1737327392 | CFTR | c.848A= (p.Lys283=) c.*745A= (n.*745A=) c.*672A= (n.*672A=) c.605A= (p.Lys202=) c.758A= (p.Lys253=) c.938A= (p.Lys313=) | |
| 7 | g.117536652A>C | CA368977545 | CFTR | c.848A>C (p.Lys283Thr) c.*745A>C (n.*745A>C) c.*672A>C (n.*672A>C) c.605A>C (p.Lys202Thr) c.758A>C (p.Lys253Thr) c.938A>C (p.Lys313Thr) | |
| 7 | g.117536652A>G | CA4450842 | CFTR | c.848A>G (p.Lys283Arg) c.*745A>G (n.*745A>G) c.*672A>G (n.*672A>G) c.605A>G (p.Lys202Arg) c.758A>G (p.Lys253Arg) c.938A>G (p.Lys313Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536652A>T | CA368977544 | CFTR | c.848A>T (p.Lys283Ile) c.*745A>T (n.*745A>T) c.*672A>T (n.*672A>T) c.605A>T (p.Lys202Ile) c.758A>T (p.Lys253Ile) c.938A>T (p.Lys313Ile) | |
| 7 | g.117536652_117536664delinsTG | CA275389 | CFTR | c.848_860delinsTG (p.Lys283MetfsTer21) c.*745_*757delinsTG (n.*745_*757delinsTG) c.*672_*684delinsTG (n.*672_*684delinsTG) c.605_617delinsTG (p.Lys202MetfsTer21) c.758_770delinsTG (p.Lys253MetfsTer21) c.938_950delinsTG (p.Lys313MetfsTer21) | ClinVar dbSNP |