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.117535318_117535327del | CA2695208301 | CFTR | c.650_659del (p.Glu217GlyfsTer11) c.*547_*556del (n.*547_*556del) c.*474_*483del (n.*474_*483del) c.407_416del (p.Glu136GlyfsTer11) c.560_569del (p.Glu187GlyfsTer11) c.740_749del (p.Glu247GlyfsTer11) | |
| 7 | g.117535319G>A | CA457227163 | CFTR | c.651G>A (p.Glu217=) c.*548G>A (n.*548G>A) c.*475G>A (n.*475G>A) c.408G>A (p.Glu136=) c.561G>A (p.Glu187=) c.741G>A (p.Glu247=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535319G>C | CA368976956 | CFTR | c.651G>C (p.Glu217Asp) c.*548G>C (n.*548G>C) c.*475G>C (n.*475G>C) c.408G>C (p.Glu136Asp) c.561G>C (p.Glu187Asp) c.741G>C (p.Glu247Asp) | |
| 7 | g.117535319G= | CA1737362149 | CFTR | c.651G= (p.Glu217=) c.*548G= (n.*548G=) c.*475G= (n.*475G=) c.408G= (p.Glu136=) c.561G= (p.Glu187=) c.741G= (p.Glu247=) | |
| 7 | g.117535319G>T | CA368976955 | CFTR | c.651G>T (p.Glu217Asp) c.*548G>T (n.*548G>T) c.*475G>T (n.*475G>T) c.408G>T (p.Glu136Asp) c.561G>T (p.Glu187Asp) c.741G>T (p.Glu247Asp) | |
| 7 | g.117535320T>A | CA368976957 | CFTR | c.652T>A (p.Leu218Met) c.*549T>A (n.*549T>A) c.*476T>A (n.*476T>A) c.409T>A (p.Leu137Met) c.562T>A (p.Leu188Met) c.742T>A (p.Leu248Met) | |
| 7 | g.117535320T>C | CA457227164 | CFTR | c.652T>C (p.Leu218=) c.*549T>C (n.*549T>C) c.*476T>C (n.*476T>C) c.409T>C (p.Leu137=) c.562T>C (p.Leu188=) c.742T>C (p.Leu248=) | ClinVar dbSNP |
| 7 | g.117535320T>G | CA368976958 | CFTR | c.652T>G (p.Leu218Val) c.*549T>G (n.*549T>G) c.*476T>G (n.*476T>G) c.409T>G (p.Leu137Val) c.562T>G (p.Leu188Val) c.742T>G (p.Leu248Val) | dbSNP |
| 7 | g.117535320T= | CA1737362150 | CFTR | c.652T= (p.Leu218=) c.*549T= (n.*549T=) c.*476T= (n.*476T=) c.409T= (p.Leu137=) c.562T= (p.Leu188=) c.742T= (p.Leu248=) | |
| 7 | g.117535321T>A | CA327616 | CFTR | c.653T>A (p.Leu218Ter) c.*550T>A (n.*550T>A) c.*477T>A (n.*477T>A) c.410T>A (p.Leu137Ter) c.563T>A (p.Leu188Ter) c.743T>A (p.Leu248Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535321T>C | CA368976959 | CFTR | c.653T>C (p.Leu218Ser) c.*550T>C (n.*550T>C) c.*477T>C (n.*477T>C) c.410T>C (p.Leu137Ser) c.563T>C (p.Leu188Ser) c.743T>C (p.Leu248Ser) | |
| 7 | g.117535321T>G | CA368976960 | CFTR | c.653T>G (p.Leu218Trp) c.*550T>G (n.*550T>G) c.*477T>G (n.*477T>G) c.410T>G (p.Leu137Trp) c.563T>G (p.Leu188Trp) c.743T>G (p.Leu248Trp) | |
| 7 | g.117535321T= | CA1737362151 | CFTR | c.653T= (p.Leu218=) c.*550T= (n.*550T=) c.*477T= (n.*477T=) c.410T= (p.Leu137=) c.563T= (p.Leu188=) c.743T= (p.Leu248=) | |
| 7 | g.117535322G>A | CA457227168 | CFTR | c.654G>A (p.Leu218=) c.*551G>A (n.*551G>A) c.*478G>A (n.*478G>A) c.411G>A (p.Leu137=) c.564G>A (p.Leu188=) c.744G>A (p.Leu248=) | |
| 7 | g.117535322G>C | CA368976961 | CFTR | c.654G>C (p.Leu218Phe) c.*551G>C (n.*551G>C) c.*478G>C (n.*478G>C) c.411G>C (p.Leu137Phe) c.564G>C (p.Leu188Phe) c.744G>C (p.Leu248Phe) | |
| 7 | g.117535322G>T | CA368976962 | CFTR | c.654G>T (p.Leu218Phe) c.*551G>T (n.*551G>T) c.*478G>T (n.*478G>T) c.411G>T (p.Leu137Phe) c.564G>T (p.Leu188Phe) c.744G>T (p.Leu248Phe) | |
| 7 | g.117535322_117535323delinsGT | CA1737362152 | CFTR | c.654_655delinsGT (p.Leu218=) c.*551_*552delinsGT (n.*551_*552delinsGT) c.*478_*479delinsGT (n.*478_*479delinsGT) c.411_412delinsGT (p.Leu137=) c.564_565delinsGT (p.Leu188=) c.744_745delinsGT (p.Leu248=) | |
| 7 | g.117535323T>A | CA368976963 | CFTR | c.655T>A (p.Leu219Ile) c.*552T>A (n.*552T>A) c.*479T>A (n.*479T>A) c.412T>A (p.Leu138Ile) c.565T>A (p.Leu189Ile) c.745T>A (p.Leu249Ile) | |
| 7 | g.117535323T>C | CA457227169 | CFTR | c.655T>C (p.Leu219=) c.*552T>C (n.*552T>C) c.*479T>C (n.*479T>C) c.412T>C (p.Leu138=) c.565T>C (p.Leu189=) c.745T>C (p.Leu249=) | ClinVar gnomAD v4 |
| 7 | g.117535323T>G | CA368976964 | CFTR | c.655T>G (p.Leu219Val) c.*552T>G (n.*552T>G) c.*479T>G (n.*479T>G) c.412T>G (p.Leu138Val) c.565T>G (p.Leu189Val) c.745T>G (p.Leu249Val) | |
| 7 | g.117535324dup | CA913111892 | CFTR | c.656dup (p.Leu219PhefsTer?) c.*553dup (n.*553dup) c.*480dup (n.*480dup) c.413dup (p.Leu138PhefsTer?) c.566dup (p.Leu189PhefsTer?) c.746dup (p.Leu249PhefsTer?) | |
| 7 | g.117535324del | CA577680176 | CFTR | c.656del (p.Leu219TyrfsTer12) c.*553del (n.*553del) c.*480del (n.*480del) c.413del (p.Leu138TyrfsTer12) c.566del (p.Leu189TyrfsTer12) c.746del (p.Leu249TyrfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535324T>A | CA368976967 | CFTR | c.656T>A (p.Leu219Ter) c.*553T>A (n.*553T>A) c.*480T>A (n.*480T>A) c.413T>A (p.Leu138Ter) c.566T>A (p.Leu189Ter) c.746T>A (p.Leu249Ter) | |
| 7 | g.117535324T>C | CA368976965 | CFTR | c.656T>C (p.Leu219Ser) c.*553T>C (n.*553T>C) c.*480T>C (n.*480T>C) c.413T>C (p.Leu138Ser) c.566T>C (p.Leu189Ser) c.746T>C (p.Leu249Ser) | |
| 7 | g.117535324T>G | CA368976966 | CFTR | c.656T>G (p.Leu219Ter) c.*553T>G (n.*553T>G) c.*480T>G (n.*480T>G) c.413T>G (p.Leu138Ter) c.566T>G (p.Leu189Ter) c.746T>G (p.Leu249Ter) | |
| 7 | g.117535324T= | CA1737362153 | CFTR | c.656T= (p.Leu219=) c.*553T= (n.*553T=) c.*480T= (n.*480T=) c.413T= (p.Leu138=) c.566T= (p.Leu189=) c.746T= (p.Leu249=) | |
| 7 | g.117535325A= | CA1737362154 | CFTR | c.657A= (p.Leu219=) c.*554A= (n.*554A=) c.*481A= (n.*481A=) c.414A= (p.Leu138=) c.567A= (p.Leu189=) c.747A= (p.Leu249=) | |
| 7 | g.117535325A>C | CA368976968 | CFTR | c.657A>C (p.Leu219Phe) c.*554A>C (n.*554A>C) c.*481A>C (n.*481A>C) c.414A>C (p.Leu138Phe) c.567A>C (p.Leu189Phe) c.747A>C (p.Leu249Phe) | |
| 7 | g.117535325A>G | CA457227170 | CFTR | c.657A>G (p.Leu219=) c.*554A>G (n.*554A>G) c.*481A>G (n.*481A>G) c.414A>G (p.Leu138=) c.567A>G (p.Leu189=) c.747A>G (p.Leu249=) | ClinVar dbSNP |
| 7 | g.117535325A>T | CA368976969 | CFTR | c.657A>T (p.Leu219Phe) c.*554A>T (n.*554A>T) c.*481A>T (n.*481A>T) c.414A>T (p.Leu138Phe) c.567A>T (p.Leu189Phe) c.747A>T (p.Leu249Phe) | |
| 7 | g.117535325dup | CA658821274 | CFTR | c.657dup (p.Gln220ThrfsTer?) c.*554dup (n.*554dup) c.*481dup (n.*481dup) c.414dup (p.Gln139ThrfsTer?) c.567dup (p.Gln190ThrfsTer?) c.747dup (p.Gln250ThrfsTer?) | ClinVar dbSNP |
| 7 | g.117535326C>A | CA368976970 | CFTR | c.658C>A (p.Gln220Lys) c.*555C>A (n.*555C>A) c.*482C>A (n.*482C>A) c.415C>A (p.Gln139Lys) c.568C>A (p.Gln190Lys) c.748C>A (p.Gln250Lys) | |
| 7 | g.117535326C= | CA1737362155 | CFTR | c.658C= (p.Gln220=) c.*555C= (n.*555C=) c.*482C= (n.*482C=) c.415C= (p.Gln139=) c.568C= (p.Gln190=) c.748C= (p.Gln250=) | |
| 7 | g.117535326C>G | CA368976971 | CFTR | c.658C>G (p.Gln220Glu) c.*555C>G (n.*555C>G) c.*482C>G (n.*482C>G) c.415C>G (p.Gln139Glu) c.568C>G (p.Gln190Glu) c.748C>G (p.Gln250Glu) | gnomAD v4 |
| 7 | g.117535326C>T | CA328131 | CFTR | c.658C>T (p.Gln220Ter) c.*555C>T (n.*555C>T) c.*482C>T (n.*482C>T) c.415C>T (p.Gln139Ter) c.568C>T (p.Gln190Ter) c.748C>T (p.Gln250Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535327A= | CA1737362156 | CFTR | c.659A= (p.Gln220=) c.*556A= (n.*556A=) c.*483A= (n.*483A=) c.416A= (p.Gln139=) c.569A= (p.Gln190=) c.749A= (p.Gln250=) | |
| 7 | g.117535327A>C | CA368976973 | CFTR | c.659A>C (p.Gln220Pro) c.*556A>C (n.*556A>C) c.*483A>C (n.*483A>C) c.416A>C (p.Gln139Pro) c.569A>C (p.Gln190Pro) c.749A>C (p.Gln250Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535327A>G | CA327618 | CFTR | c.659A>G (p.Gln220Arg) c.*556A>G (n.*556A>G) c.*483A>G (n.*483A>G) c.416A>G (p.Gln139Arg) c.569A>G (p.Gln190Arg) c.749A>G (p.Gln250Arg) | dbSNP |
| 7 | g.117535327A>T | CA368976972 | CFTR | c.659A>T (p.Gln220Leu) c.*556A>T (n.*556A>T) c.*483A>T (n.*483A>T) c.416A>T (p.Gln139Leu) c.569A>T (p.Gln190Leu) c.749A>T (p.Gln250Leu) | gnomAD v4 |
| 7 | g.117535328G>A | CA4450794 | CFTR | c.660G>A (p.Gln220=) c.*557G>A (n.*557G>A) c.*484G>A (n.*484G>A) c.417G>A (p.Gln139=) c.570G>A (p.Gln190=) c.750G>A (p.Gln250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535328G>C | CA368976975 | CFTR | c.660G>C (p.Gln220His) c.*557G>C (n.*557G>C) c.*484G>C (n.*484G>C) c.417G>C (p.Gln139His) c.570G>C (p.Gln190His) c.750G>C (p.Gln250His) | |
| 7 | g.117535328G= | CA1737362157 | CFTR | c.660G= (p.Gln220=) c.*557G= (n.*557G=) c.*484G= (n.*484G=) c.417G= (p.Gln139=) c.570G= (p.Gln190=) c.750G= (p.Gln250=) | |
| 7 | g.117535328G>T | CA368976976 | CFTR | c.660G>T (p.Gln220His) c.*557G>T (n.*557G>T) c.*484G>T (n.*484G>T) c.417G>T (p.Gln139His) c.570G>T (p.Gln190His) c.750G>T (p.Gln250His) | |
| 7 | g.117535329G>A | CA368976978 | CFTR | c.661G>A (p.Ala221Thr) c.*558G>A (n.*558G>A) c.*485G>A (n.*485G>A) c.418G>A (p.Ala140Thr) c.571G>A (p.Ala191Thr) c.751G>A (p.Ala251Thr) | gnomAD v4 |
| 7 | g.117535329G>C | CA368976979 | CFTR | c.661G>C (p.Ala221Pro) c.*558G>C (n.*558G>C) c.*485G>C (n.*485G>C) c.418G>C (p.Ala140Pro) c.571G>C (p.Ala191Pro) c.751G>C (p.Ala251Pro) | ClinVar |
| 7 | g.117535329G>T | CA368976981 | CFTR | c.661G>T (p.Ala221Ser) c.*558G>T (n.*558G>T) c.*485G>T (n.*485G>T) c.418G>T (p.Ala140Ser) c.571G>T (p.Ala191Ser) c.751G>T (p.Ala251Ser) | |
| 7 | g.117535330del | CA2573141540 | CFTR | c.662del (p.Ala221GlyfsTer10) c.*559del (n.*559del) c.*486del (n.*486del) c.419del (p.Ala140GlyfsTer10) c.572del (p.Ala191GlyfsTer10) c.752del (p.Ala251GlyfsTer10) | ClinVar dbSNP |
| 7 | g.117535330C>A | CA368976982 | CFTR | c.662C>A (p.Ala221Glu) c.*559C>A (n.*559C>A) c.*486C>A (n.*486C>A) c.419C>A (p.Ala140Glu) c.572C>A (p.Ala191Glu) c.752C>A (p.Ala251Glu) | ClinVar dbSNP |
| 7 | g.117535330C= | CA1737362158 | CFTR | c.662C= (p.Ala221=) c.*559C= (n.*559C=) c.*486C= (n.*486C=) c.419C= (p.Ala140=) c.572C= (p.Ala191=) c.752C= (p.Ala251=) |