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.117536635G>A | CA368977504 | CFTR | c.831G>A (p.Trp277Ter) c.*728G>A (n.*728G>A) c.*655G>A (n.*655G>A) c.588G>A (p.Trp196Ter) c.741G>A (p.Trp247Ter) c.921G>A (p.Trp307Ter) | ClinVar dbSNP |
| 7 | g.117536635G>C | CA368977505 | CFTR | c.831G>C (p.Trp277Cys) c.*728G>C (n.*728G>C) c.*655G>C (n.*655G>C) c.588G>C (p.Trp196Cys) c.741G>C (p.Trp247Cys) c.921G>C (p.Trp307Cys) | |
| 7 | g.117536635G>T | CA368977506 | CFTR | c.831G>T (p.Trp277Cys) c.*728G>T (n.*728G>T) c.*655G>T (n.*655G>T) c.588G>T (p.Trp196Cys) c.741G>T (p.Trp247Cys) c.921G>T (p.Trp307Cys) | |
| 7 | g.117536635_117536638delinsGGAA | CA1737327244 | CFTR | c.831_834delinsGGAA (p.Trp277=) c.*728_*731delinsGGAA (n.*728_*731delinsGGAA) c.*655_*658delinsGGAA (n.*655_*658delinsGGAA) c.588_591delinsGGAA (p.Trp196=) c.741_744delinsGGAA (p.Trp247=) c.921_924delinsGGAA (p.Trp307=) | |
| 7 | g.117536636G>A | CA368977507 | CFTR | c.832G>A (p.Glu278Lys) c.*729G>A (n.*729G>A) c.*656G>A (n.*656G>A) c.589G>A (p.Glu197Lys) c.742G>A (p.Glu248Lys) c.922G>A (p.Glu308Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536636G>C | CA368977508 | CFTR | c.832G>C (p.Glu278Gln) c.*729G>C (n.*729G>C) c.*656G>C (n.*656G>C) c.589G>C (p.Glu197Gln) c.742G>C (p.Glu248Gln) c.922G>C (p.Glu308Gln) | |
| 7 | g.117536636G= | CA1737327250 | CFTR | c.832G= (p.Glu278=) c.*729G= (n.*729G=) c.*656G= (n.*656G=) c.589G= (p.Glu197=) c.742G= (p.Glu248=) c.922G= (p.Glu308=) | |
| 7 | g.117536636G>T | CA368977509 | CFTR | c.832G>T (p.Glu278Ter) c.*729G>T (n.*729G>T) c.*656G>T (n.*656G>T) c.589G>T (p.Glu197Ter) c.742G>T (p.Glu248Ter) c.922G>T (p.Glu308Ter) | |
| 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.117536637A>C | CA368977512 | CFTR | c.833A>C (p.Glu278Ala) c.*730A>C (n.*730A>C) c.*657A>C (n.*657A>C) c.590A>C (p.Glu197Ala) c.743A>C (p.Glu248Ala) c.923A>C (p.Glu308Ala) | |
| 7 | g.117536637A>G | CA368977510 | CFTR | c.833A>G (p.Glu278Gly) c.*730A>G (n.*730A>G) c.*657A>G (n.*657A>G) c.590A>G (p.Glu197Gly) c.743A>G (p.Glu248Gly) c.923A>G (p.Glu308Gly) | |
| 7 | g.117536637A>T | CA368977511 | CFTR | c.833A>T (p.Glu278Val) c.*730A>T (n.*730A>T) c.*657A>T (n.*657A>T) c.590A>T (p.Glu197Val) c.743A>T (p.Glu248Val) c.923A>T (p.Glu308Val) | |
| 7 | g.117536638A>C | CA368977513 | CFTR | c.834A>C (p.Glu278Asp) c.*731A>C (n.*731A>C) c.*658A>C (n.*658A>C) c.591A>C (p.Glu197Asp) c.744A>C (p.Glu248Asp) c.924A>C (p.Glu308Asp) | |
| 7 | g.117536638A>G | CA457227413 | CFTR | c.834A>G (p.Glu278=) c.*731A>G (n.*731A>G) c.*658A>G (n.*658A>G) c.591A>G (p.Glu197=) c.744A>G (p.Glu248=) c.924A>G (p.Glu308=) | |
| 7 | g.117536638A>T | CA368977514 | CFTR | c.834A>T (p.Glu278Asp) c.*731A>T (n.*731A>T) c.*658A>T (n.*658A>T) c.591A>T (p.Glu197Asp) c.744A>T (p.Glu248Asp) c.924A>T (p.Glu308Asp) | gnomAD v4 |
| 7 | g.117536639G>A | CA368977515 | CFTR | c.835G>A (p.Glu279Lys) c.*732G>A (n.*732G>A) c.*659G>A (n.*659G>A) c.592G>A (p.Glu198Lys) c.745G>A (p.Glu249Lys) c.925G>A (p.Glu309Lys) | COSMIC |
| 7 | g.117536639G>C | CA368977516 | CFTR | c.835G>C (p.Glu279Gln) c.*732G>C (n.*732G>C) c.*659G>C (n.*659G>C) c.592G>C (p.Glu198Gln) c.745G>C (p.Glu249Gln) c.925G>C (p.Glu309Gln) | |
| 7 | g.117536639G= | CA1737327313 | CFTR | c.835G= (p.Glu279=) c.*732G= (n.*732G=) c.*659G= (n.*659G=) c.592G= (p.Glu198=) c.745G= (p.Glu249=) c.925G= (p.Glu309=) | |
| 7 | g.117536639G>T | CA368977517 | CFTR | c.835G>T (p.Glu279Ter) c.*732G>T (n.*732G>T) c.*659G>T (n.*659G>T) c.592G>T (p.Glu198Ter) c.745G>T (p.Glu249Ter) c.925G>T (p.Glu309Ter) | ClinVar dbSNP gnomAD v2 |
| 7 | g.117536640A>C | CA368977520 | CFTR | c.836A>C (p.Glu279Ala) c.*733A>C (n.*733A>C) c.*660A>C (n.*660A>C) c.593A>C (p.Glu198Ala) c.746A>C (p.Glu249Ala) c.926A>C (p.Glu309Ala) | |
| 7 | g.117536640A>G | CA368977518 | CFTR | c.836A>G (p.Glu279Gly) c.*733A>G (n.*733A>G) c.*660A>G (n.*660A>G) c.593A>G (p.Glu198Gly) c.746A>G (p.Glu249Gly) c.926A>G (p.Glu309Gly) | |
| 7 | g.117536640A>T | CA368977519 | CFTR | c.836A>T (p.Glu279Val) c.*733A>T (n.*733A>T) c.*660A>T (n.*660A>T) c.593A>T (p.Glu198Val) c.746A>T (p.Glu249Val) c.926A>T (p.Glu309Val) | |
| 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) |