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 |
|---|---|---|---|---|---|
| 20 | g.44413727G>A | CA9870232 | HNF4A | c.353G>A (p.Arg118Gln) c.419G>A (p.Arg140Gln) c.393G>A n.395G>A n.1543G>A c.*186G>A (n.*186G>A) c.344G>A (p.Arg115Gln) c.398G>A (p.Arg133Gln) c.536G>A (p.Arg179Gln) c.467G>A (p.Arg156Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413727G>C | CA409105514 | HNF4A | c.353G>C (p.Arg118Pro) c.419G>C (p.Arg140Pro) c.393G>C n.395G>C n.1543G>C c.*186G>C (n.*186G>C) c.344G>C (p.Arg115Pro) c.398G>C (p.Arg133Pro) c.536G>C (p.Arg179Pro) c.467G>C (p.Arg156Pro) | gnomAD v4 |
| 20 | g.44413727G= | CA2365761554 | HNF4A | c.353G= (p.Arg118=) c.419G= (p.Arg140=) c.393G= n.395G= n.1543G= c.*186G= (n.*186G=) c.344G= (p.Arg115=) c.398G= (p.Arg133=) c.536G= (p.Arg179=) c.467G= (p.Arg156=) | |
| 20 | g.44413727G>T | CA409105517 | HNF4A | c.353G>T (p.Arg118Leu) c.419G>T (p.Arg140Leu) c.393G>T n.395G>T n.1543G>T c.*186G>T (n.*186G>T) c.344G>T (p.Arg115Leu) c.398G>T (p.Arg133Leu) c.536G>T (p.Arg179Leu) c.467G>T (p.Arg156Leu) | gnomAD v4 |
| 20 | g.44413728A>C | CA510582602 | HNF4A | c.354A>C (p.Arg118=) c.420A>C (p.Arg140=) c.394A>C n.396A>C n.1544A>C c.*187A>C (n.*187A>C) c.345A>C (p.Arg115=) c.399A>C (p.Arg133=) c.537A>C (p.Arg179=) c.468A>C (p.Arg156=) | |
| 20 | g.44413728A>G | CA510582603 | HNF4A | c.354A>G (p.Arg118=) c.420A>G (p.Arg140=) c.394A>G n.396A>G n.1544A>G c.*187A>G (n.*187A>G) c.345A>G (p.Arg115=) c.399A>G (p.Arg133=) c.537A>G (p.Arg179=) c.468A>G (p.Arg156=) | |
| 20 | g.44413728A>T | CA510582604 | HNF4A | c.354A>T (p.Arg118=) c.420A>T (p.Arg140=) c.394A>T n.396A>T n.1544A>T c.*187A>T (n.*187A>T) c.345A>T (p.Arg115=) c.399A>T (p.Arg133=) c.537A>T (p.Arg179=) c.468A>T (p.Arg156=) | |
| 20 | g.44413729A= | CA2365761555 | HNF4A | c.355A= (p.Arg119=) c.421A= (p.Arg141=) c.395A= n.397A= n.1545A= c.*188A= (n.*188A=) c.346A= (p.Arg116=) c.400A= (p.Arg134=) c.538A= (p.Arg180=) c.469A= (p.Arg157=) | |
| 20 | g.44413729A>C | CA510582605 | HNF4A | c.355A>C (p.Arg119=) c.421A>C (p.Arg141=) c.395A>C n.397A>C n.1545A>C c.*188A>C (n.*188A>C) c.346A>C (p.Arg116=) c.400A>C (p.Arg134=) c.538A>C (p.Arg180=) c.469A>C (p.Arg157=) | |
| 20 | g.44413729A>G | CA315408392 | HNF4A | c.355A>G (p.Arg119Gly) c.421A>G (p.Arg141Gly) c.395A>G n.397A>G n.1545A>G c.*188A>G (n.*188A>G) c.346A>G (p.Arg116Gly) c.400A>G (p.Arg134Gly) c.538A>G (p.Arg180Gly) c.469A>G (p.Arg157Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413729A>T | CA409105521 | HNF4A | c.355A>T (p.Arg119Trp) c.421A>T (p.Arg141Trp) c.395A>T n.397A>T n.1545A>T c.*188A>T (n.*188A>T) c.346A>T (p.Arg116Trp) c.400A>T (p.Arg134Trp) c.538A>T (p.Arg180Trp) c.469A>T (p.Arg157Trp) | gnomAD v4 |
| 20 | g.44413730G>A | CA409105525 | HNF4A | c.356G>A (p.Arg119Lys) c.422G>A (p.Arg141Lys) c.396G>A n.398G>A n.1546G>A c.*189G>A (n.*189G>A) c.347G>A (p.Arg116Lys) c.401G>A (p.Arg134Lys) c.539G>A (p.Arg180Lys) c.470G>A (p.Arg157Lys) | gnomAD v4 |
| 20 | g.44413730G>C | CA409105527 | HNF4A | c.356G>C (p.Arg119Thr) c.422G>C (p.Arg141Thr) c.396G>C n.398G>C n.1546G>C c.*189G>C (n.*189G>C) c.347G>C (p.Arg116Thr) c.401G>C (p.Arg134Thr) c.539G>C (p.Arg180Thr) c.470G>C (p.Arg157Thr) | |
| 20 | g.44413730G>T | CA409105529 | HNF4A | c.356G>T (p.Arg119Met) c.422G>T (p.Arg141Met) c.396G>T n.398G>T n.1546G>T c.*189G>T (n.*189G>T) c.347G>T (p.Arg116Met) c.401G>T (p.Arg134Met) c.539G>T (p.Arg180Met) c.470G>T (p.Arg157Met) | |
| 20 | g.44413731G>A | CA510582606 | HNF4A | c.357G>A (p.Arg119=) c.423G>A (p.Arg141=) c.397G>A n.399G>A n.1547G>A c.*190G>A (n.*190G>A) c.348G>A (p.Arg116=) c.402G>A (p.Arg134=) c.540G>A (p.Arg180=) c.471G>A (p.Arg157=) | gnomAD v4 |
| 20 | g.44413731G>C | CA409105531 | HNF4A | c.357G>C (p.Arg119Ser) c.423G>C (p.Arg141Ser) c.397G>C n.399G>C n.1547G>C c.*190G>C (n.*190G>C) c.348G>C (p.Arg116Ser) c.402G>C (p.Arg134Ser) c.540G>C (p.Arg180Ser) c.471G>C (p.Arg157Ser) | |
| 20 | g.44413731G>T | CA409105533 | HNF4A | c.357G>T (p.Arg119Ser) c.423G>T (p.Arg141Ser) c.397G>T n.399G>T n.1547G>T c.*190G>T (n.*190G>T) c.348G>T (p.Arg116Ser) c.402G>T (p.Arg134Ser) c.540G>T (p.Arg180Ser) c.471G>T (p.Arg157Ser) | |
| 20 | g.44413732T>A | CA409105537 | HNF4A | c.358T>A (p.Ser120Thr) c.424T>A (p.Ser142Thr) c.398T>A n.400T>A n.1548T>A c.*191T>A (n.*191T>A) c.349T>A (p.Ser117Thr) c.403T>A (p.Ser135Thr) c.541T>A (p.Ser181Thr) c.472T>A (p.Ser158Thr) | |
| 20 | g.44413732T>C | CA9870233 | HNF4A | c.358T>C (p.Ser120Pro) c.424T>C (p.Ser142Pro) c.398T>C n.400T>C n.1548T>C c.*191T>C (n.*191T>C) c.349T>C (p.Ser117Pro) c.403T>C (p.Ser135Pro) c.541T>C (p.Ser181Pro) c.472T>C (p.Ser158Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413732T>G | CA409105540 | HNF4A | c.358T>G (p.Ser120Ala) c.424T>G (p.Ser142Ala) c.398T>G n.400T>G n.1548T>G c.*191T>G (n.*191T>G) c.349T>G (p.Ser117Ala) c.403T>G (p.Ser135Ala) c.541T>G (p.Ser181Ala) c.472T>G (p.Ser158Ala) | gnomAD v4 |
| 20 | g.44413732T= | CA2365761556 | HNF4A | c.358T= (p.Ser120=) c.424T= (p.Ser142=) c.398T= n.400T= n.1548T= c.*191T= (n.*191T=) c.349T= (p.Ser117=) c.403T= (p.Ser135=) c.541T= (p.Ser181=) c.472T= (p.Ser158=) | |
| 20 | g.44413733C>A | CA409105542 | HNF4A | c.359C>A (p.Ser120Ter) c.425C>A (p.Ser142Ter) c.399C>A n.401C>A n.1549C>A c.*192C>A (n.*192C>A) c.350C>A (p.Ser117Ter) c.404C>A (p.Ser135Ter) c.542C>A (p.Ser181Ter) c.473C>A (p.Ser158Ter) | |
| 20 | g.44413733C>G | CA409105545 | HNF4A | c.359C>G (p.Ser120Ter) c.425C>G (p.Ser142Ter) c.399C>G n.401C>G n.1549C>G c.*192C>G (n.*192C>G) c.350C>G (p.Ser117Ter) c.404C>G (p.Ser135Ter) c.542C>G (p.Ser181Ter) c.473C>G (p.Ser158Ter) | |
| 20 | g.44413733C>T | CA409105547 | HNF4A | c.359C>T (p.Ser120Leu) c.425C>T (p.Ser142Leu) c.399C>T n.401C>T n.1549C>T c.*192C>T (n.*192C>T) c.350C>T (p.Ser117Leu) c.404C>T (p.Ser135Leu) c.542C>T (p.Ser181Leu) c.473C>T (p.Ser158Leu) | |
| 20 | g.44413734A= | CA2365761557 | HNF4A | c.360A= (p.Ser120=) c.426A= (p.Ser142=) c.400A= n.402A= n.1550A= c.*193A= (n.*193A=) c.351A= (p.Ser117=) c.405A= (p.Ser135=) c.543A= (p.Ser181=) c.474A= (p.Ser158=) | |
| 20 | g.44413734A>C | CA510582607 | HNF4A | c.360A>C (p.Ser120=) c.426A>C (p.Ser142=) c.400A>C n.402A>C n.1550A>C c.*193A>C (n.*193A>C) c.351A>C (p.Ser117=) c.405A>C (p.Ser135=) c.543A>C (p.Ser181=) c.474A>C (p.Ser158=) | |
| 20 | g.44413734A>G | CA9870234 | HNF4A | c.360A>G (p.Ser120=) c.426A>G (p.Ser142=) c.400A>G n.402A>G n.1550A>G c.*193A>G (n.*193A>G) c.351A>G (p.Ser117=) c.405A>G (p.Ser135=) c.543A>G (p.Ser181=) c.474A>G (p.Ser158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44413734A>T | CA510582608 | HNF4A | c.360A>T (p.Ser120=) c.426A>T (p.Ser142=) c.400A>T n.402A>T n.1550A>T c.*193A>T (n.*193A>T) c.351A>T (p.Ser117=) c.405A>T (p.Ser135=) c.543A>T (p.Ser181=) c.474A>T (p.Ser158=) | |
| 20 | g.44413735A= | CA2365761558 | HNF4A | c.361A= (p.Ser121=) c.427A= (p.Ser143=) c.401A= n.403A= n.1551A= c.*194A= (n.*194A=) c.352A= (p.Ser118=) c.406A= (p.Ser136=) c.544A= (p.Ser182=) c.475A= (p.Ser159=) | |
| 20 | g.44413735A>C | CA409105552 | HNF4A | c.361A>C (p.Ser121Arg) c.427A>C (p.Ser143Arg) c.401A>C n.403A>C n.1551A>C c.*194A>C (n.*194A>C) c.352A>C (p.Ser118Arg) c.406A>C (p.Ser136Arg) c.544A>C (p.Ser182Arg) c.475A>C (p.Ser159Arg) | |
| 20 | g.44413735A>G | CA213929 | HNF4A | c.361A>G (p.Ser121Gly) c.427A>G (p.Ser143Gly) c.401A>G n.403A>G n.1551A>G c.*194A>G (n.*194A>G) c.352A>G (p.Ser118Gly) c.406A>G (p.Ser136Gly) c.544A>G (p.Ser182Gly) c.475A>G (p.Ser159Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413735A>T | CA409105549 | HNF4A | c.361A>T (p.Ser121Cys) c.427A>T (p.Ser143Cys) c.401A>T n.403A>T n.1551A>T c.*194A>T (n.*194A>T) c.352A>T (p.Ser118Cys) c.406A>T (p.Ser136Cys) c.544A>T (p.Ser182Cys) c.475A>T (p.Ser159Cys) | |
| 20 | g.44413736G>A | CA409105555 | HNF4A | c.362G>A (p.Ser121Asn) c.428G>A (p.Ser143Asn) c.402G>A n.404G>A n.1552G>A c.*195G>A (n.*195G>A) c.353G>A (p.Ser118Asn) c.407G>A (p.Ser136Asn) c.545G>A (p.Ser182Asn) c.476G>A (p.Ser159Asn) | |
| 20 | g.44413736G>C | CA409105557 | HNF4A | c.362G>C (p.Ser121Thr) c.428G>C (p.Ser143Thr) c.402G>C n.404G>C n.1552G>C c.*195G>C (n.*195G>C) c.353G>C (p.Ser118Thr) c.407G>C (p.Ser136Thr) c.545G>C (p.Ser182Thr) c.476G>C (p.Ser159Thr) | |
| 20 | g.44413736G>T | CA409105559 | HNF4A | c.362G>T (p.Ser121Ile) c.428G>T (p.Ser143Ile) c.402G>T n.404G>T n.1552G>T c.*195G>T (n.*195G>T) c.353G>T (p.Ser118Ile) c.407G>T (p.Ser136Ile) c.545G>T (p.Ser182Ile) c.476G>T (p.Ser159Ile) | |
| 20 | g.44413737C>A | CA409105561 | HNF4A | c.363C>A (p.Ser121Arg) c.429C>A (p.Ser143Arg) c.403C>A n.405C>A n.1553C>A c.*196C>A (n.*196C>A) c.354C>A (p.Ser118Arg) c.408C>A (p.Ser136Arg) c.546C>A (p.Ser182Arg) c.477C>A (p.Ser159Arg) | |
| 20 | g.44413737C>G | CA409105564 | HNF4A | c.363C>G (p.Ser121Arg) c.429C>G (p.Ser143Arg) c.403C>G n.405C>G n.1553C>G c.*196C>G (n.*196C>G) c.354C>G (p.Ser118Arg) c.408C>G (p.Ser136Arg) c.546C>G (p.Ser182Arg) c.477C>G (p.Ser159Arg) | |
| 20 | g.44413737C>T | CA510582609 | HNF4A | c.363C>T (p.Ser121=) c.429C>T (p.Ser143=) c.403C>T n.405C>T n.1553C>T c.*196C>T (n.*196C>T) c.354C>T (p.Ser118=) c.408C>T (p.Ser136=) c.546C>T (p.Ser182=) c.477C>T (p.Ser159=) | |
| 20 | g.44413738T>A | CA409105567 | HNF4A | c.364T>A (p.Tyr122Asn) c.430T>A (p.Tyr144Asn) c.404T>A n.406T>A n.1554T>A c.*197T>A (n.*197T>A) c.355T>A (p.Tyr119Asn) c.409T>A (p.Tyr137Asn) c.547T>A (p.Tyr183Asn) c.478T>A (p.Tyr160Asn) | |
| 20 | g.44413738T>C | CA409105568 | HNF4A | c.364T>C (p.Tyr122His) c.430T>C (p.Tyr144His) c.404T>C n.406T>C n.1554T>C c.*197T>C (n.*197T>C) c.355T>C (p.Tyr119His) c.409T>C (p.Tyr137His) c.547T>C (p.Tyr183His) c.478T>C (p.Tyr160His) | |
| 20 | g.44413738T>G | CA409105571 | HNF4A | c.364T>G (p.Tyr122Asp) c.430T>G (p.Tyr144Asp) c.404T>G n.406T>G n.1554T>G c.*197T>G (n.*197T>G) c.355T>G (p.Tyr119Asp) c.409T>G (p.Tyr137Asp) c.547T>G (p.Tyr183Asp) c.478T>G (p.Tyr160Asp) | |
| 20 | g.44413739A>C | CA409105573 | HNF4A | c.365A>C (p.Tyr122Ser) c.431A>C (p.Tyr144Ser) c.405A>C n.407A>C n.1555A>C c.*198A>C (n.*198A>C) c.356A>C (p.Tyr119Ser) c.410A>C (p.Tyr137Ser) c.548A>C (p.Tyr183Ser) c.479A>C (p.Tyr160Ser) | |
| 20 | g.44413739A>G | CA409105575 | HNF4A | c.365A>G (p.Tyr122Cys) c.431A>G (p.Tyr144Cys) c.405A>G n.407A>G n.1555A>G c.*198A>G (n.*198A>G) c.356A>G (p.Tyr119Cys) c.410A>G (p.Tyr137Cys) c.548A>G (p.Tyr183Cys) c.479A>G (p.Tyr160Cys) | gnomAD v4 |
| 20 | g.44413739A>T | CA409105577 | HNF4A | c.365A>T (p.Tyr122Phe) c.431A>T (p.Tyr144Phe) c.405A>T n.407A>T n.1555A>T c.*198A>T (n.*198A>T) c.356A>T (p.Tyr119Phe) c.410A>T (p.Tyr137Phe) c.548A>T (p.Tyr183Phe) c.479A>T (p.Tyr160Phe) | |
| 20 | g.44413740T>A | CA409105581 | HNF4A | c.366T>A (p.Tyr122Ter) c.432T>A (p.Tyr144Ter) c.406T>A n.408T>A n.1556T>A c.*199T>A (n.*199T>A) c.357T>A (p.Tyr119Ter) c.411T>A (p.Tyr137Ter) c.549T>A (p.Tyr183Ter) c.480T>A (p.Tyr160Ter) | |
| 20 | g.44413740T>C | CA510582610 | HNF4A | c.366T>C (p.Tyr122=) c.432T>C (p.Tyr144=) c.406T>C n.408T>C n.1556T>C c.*199T>C (n.*199T>C) c.357T>C (p.Tyr119=) c.411T>C (p.Tyr137=) c.549T>C (p.Tyr183=) c.480T>C (p.Tyr160=) | gnomAD v4 |
| 20 | g.44413740T>G | CA409105584 | HNF4A | c.366T>G (p.Tyr122Ter) c.432T>G (p.Tyr144Ter) c.406T>G n.408T>G n.1556T>G c.*199T>G (n.*199T>G) c.357T>G (p.Tyr119Ter) c.411T>G (p.Tyr137Ter) c.549T>G (p.Tyr183Ter) c.480T>G (p.Tyr160Ter) | |
| 20 | g.44413741G>A | CA409105590 | HNF4A | c.367G>A (p.Glu123Lys) c.433G>A (p.Glu145Lys) c.407G>A n.409G>A n.1557G>A c.*200G>A (n.*200G>A) c.358G>A (p.Glu120Lys) c.412G>A (p.Glu138Lys) c.550G>A (p.Glu184Lys) c.481G>A (p.Glu161Lys) | dbSNP |
| 20 | g.44413741G>C | CA409105589 | HNF4A | c.367G>C (p.Glu123Gln) c.433G>C (p.Glu145Gln) c.407G>C n.409G>C n.1557G>C c.*200G>C (n.*200G>C) c.358G>C (p.Glu120Gln) c.412G>C (p.Glu138Gln) c.550G>C (p.Glu184Gln) c.481G>C (p.Glu161Gln) | gnomAD v4 |
| 20 | g.44413741G= | CA2365761559 | HNF4A | c.367G= (p.Glu123=) c.433G= (p.Glu145=) c.407G= n.409G= n.1557G= c.*200G= (n.*200G=) c.358G= (p.Glu120=) c.412G= (p.Glu138=) c.550G= (p.Glu184=) c.481G= (p.Glu161=) |