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.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=) | |
| 20 | g.44413741G>T | CA409105587 | HNF4A | c.367G>T (p.Glu123Ter) c.433G>T (p.Glu145Ter) c.407G>T n.409G>T n.1557G>T c.*200G>T (n.*200G>T) c.358G>T (p.Glu120Ter) c.412G>T (p.Glu138Ter) c.550G>T (p.Glu184Ter) c.481G>T (p.Glu161Ter) | |
| 20 | g.44413742A= | CA2365761560 | HNF4A | c.368A= (p.Glu123=) c.434A= (p.Glu145=) c.408A= n.410A= n.1558A= c.*201A= (n.*201A=) c.359A= (p.Glu120=) c.413A= (p.Glu138=) c.551A= (p.Glu184=) c.482A= (p.Glu161=) | |
| 20 | g.44413742A>C | CA409105592 | HNF4A | c.368A>C (p.Glu123Ala) c.434A>C (p.Glu145Ala) c.408A>C n.410A>C n.1558A>C c.*201A>C (n.*201A>C) c.359A>C (p.Glu120Ala) c.413A>C (p.Glu138Ala) c.551A>C (p.Glu184Ala) c.482A>C (p.Glu161Ala) | |
| 20 | g.44413742A>G | CA409105594 | HNF4A | c.368A>G (p.Glu123Gly) c.434A>G (p.Glu145Gly) c.408A>G n.410A>G n.1558A>G c.*201A>G (n.*201A>G) c.359A>G (p.Glu120Gly) c.413A>G (p.Glu138Gly) c.551A>G (p.Glu184Gly) c.482A>G (p.Glu161Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44413742A>T | CA409105597 | HNF4A | c.368A>T (p.Glu123Val) c.434A>T (p.Glu145Val) c.408A>T n.410A>T n.1558A>T c.*201A>T (n.*201A>T) c.359A>T (p.Glu120Val) c.413A>T (p.Glu138Val) c.551A>T (p.Glu184Val) c.482A>T (p.Glu161Val) | |
| 20 | g.44413743G>A | CA9870235 | HNF4A | c.369G>A (p.Glu123=) c.435G>A (p.Glu145=) c.409G>A n.411G>A n.1559G>A c.*202G>A (n.*202G>A) c.360G>A (p.Glu120=) c.414G>A (p.Glu138=) c.552G>A (p.Glu184=) c.483G>A (p.Glu161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44413743G>C | CA409105599 | HNF4A | c.369G>C (p.Glu123Asp) c.435G>C (p.Glu145Asp) c.409G>C n.411G>C n.1559G>C c.*202G>C (n.*202G>C) c.360G>C (p.Glu120Asp) c.414G>C (p.Glu138Asp) c.552G>C (p.Glu184Asp) c.483G>C (p.Glu161Asp) | |
| 20 | g.44413743G= | CA2365761561 | HNF4A | c.369G= (p.Glu123=) c.435G= (p.Glu145=) c.409G= n.411G= n.1559G= c.*202G= (n.*202G=) c.360G= (p.Glu120=) c.414G= (p.Glu138=) c.552G= (p.Glu184=) c.483G= (p.Glu161=) | |
| 20 | g.44413743G>T | CA409105601 | HNF4A | c.369G>T (p.Glu123Asp) c.435G>T (p.Glu145Asp) c.409G>T n.411G>T n.1559G>T c.*202G>T (n.*202G>T) c.360G>T (p.Glu120Asp) c.414G>T (p.Glu138Asp) c.552G>T (p.Glu184Asp) c.483G>T (p.Glu161Asp) | |
| 20 | g.44413744G>A | CA409105603 | HNF4A | c.370G>A (p.Asp124Asn) c.436G>A (p.Asp146Asn) c.410G>A n.412G>A n.1560G>A c.*203G>A (n.*203G>A) c.361G>A (p.Asp121Asn) c.415G>A (p.Asp139Asn) c.553G>A (p.Asp185Asn) c.484G>A (p.Asp162Asn) | gnomAD v4 |
| 20 | g.44413744G>C | CA409105606 | HNF4A | c.370G>C (p.Asp124His) c.436G>C (p.Asp146His) c.410G>C n.412G>C n.1560G>C c.*203G>C (n.*203G>C) c.361G>C (p.Asp121His) c.415G>C (p.Asp139His) c.553G>C (p.Asp185His) c.484G>C (p.Asp162His) | |
| 20 | g.44413744G>T | CA409105609 | HNF4A | c.370G>T (p.Asp124Tyr) c.436G>T (p.Asp146Tyr) c.410G>T n.412G>T n.1560G>T c.*203G>T (n.*203G>T) c.361G>T (p.Asp121Tyr) c.415G>T (p.Asp139Tyr) c.553G>T (p.Asp185Tyr) c.484G>T (p.Asp162Tyr) | |
| 20 | g.44413745A>C | CA409105611 | HNF4A | c.371A>C (p.Asp124Ala) c.437A>C (p.Asp146Ala) c.411A>C n.413A>C n.1561A>C c.*204A>C (n.*204A>C) c.362A>C (p.Asp121Ala) c.416A>C (p.Asp139Ala) c.554A>C (p.Asp185Ala) c.485A>C (p.Asp162Ala) | |
| 20 | g.44413745A>G | CA409105613 | HNF4A | c.371A>G (p.Asp124Gly) c.437A>G (p.Asp146Gly) c.411A>G n.413A>G n.1561A>G c.*204A>G (n.*204A>G) c.362A>G (p.Asp121Gly) c.416A>G (p.Asp139Gly) c.554A>G (p.Asp185Gly) c.485A>G (p.Asp162Gly) | |
| 20 | g.44413745A>T | CA409105616 | HNF4A | c.371A>T (p.Asp124Val) c.437A>T (p.Asp146Val) c.411A>T n.413A>T n.1561A>T c.*204A>T (n.*204A>T) c.362A>T (p.Asp121Val) c.416A>T (p.Asp139Val) c.554A>T (p.Asp185Val) c.485A>T (p.Asp162Val) | |
| 20 | g.44413746C>A | CA409105619 | HNF4A | c.372C>A (p.Asp124Glu) c.438C>A (p.Asp146Glu) c.412C>A n.414C>A n.1562C>A c.*205C>A (n.*205C>A) c.363C>A (p.Asp121Glu) c.417C>A (p.Asp139Glu) c.555C>A (p.Asp185Glu) c.486C>A (p.Asp162Glu) | gnomAD v4 |
| 20 | g.44413746C= | CA2365761562 | HNF4A | c.372C= (p.Asp124=) c.438C= (p.Asp146=) c.412C= n.414C= n.1562C= c.*205C= (n.*205C=) c.363C= (p.Asp121=) c.417C= (p.Asp139=) c.555C= (p.Asp185=) c.486C= (p.Asp162=) | |
| 20 | g.44413746C>G | CA409105621 | HNF4A | c.372C>G (p.Asp124Glu) c.438C>G (p.Asp146Glu) c.412C>G n.414C>G n.1562C>G c.*205C>G (n.*205C>G) c.363C>G (p.Asp121Glu) c.417C>G (p.Asp139Glu) c.555C>G (p.Asp185Glu) c.486C>G (p.Asp162Glu) | |
| 20 | g.44413746C>T | CA510582611 | HNF4A | c.372C>T (p.Asp124=) c.438C>T (p.Asp146=) c.412C>T n.414C>T n.1562C>T c.*205C>T (n.*205C>T) c.363C>T (p.Asp121=) c.417C>T (p.Asp139=) c.555C>T (p.Asp185=) c.486C>T (p.Asp162=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44413747A>C | CA409105631 | HNF4A | c.373A>C (p.Ser125Arg) c.439A>C (p.Ser147Arg) c.413A>C n.415A>C n.1563A>C c.*206A>C (n.*206A>C) c.364A>C (p.Ser122Arg) c.418A>C (p.Ser140Arg) c.556A>C (p.Ser186Arg) c.487A>C (p.Ser163Arg) | |
| 20 | g.44413747A>G | CA409105628 | HNF4A | c.373A>G (p.Ser125Gly) c.439A>G (p.Ser147Gly) c.413A>G n.415A>G n.1563A>G c.*206A>G (n.*206A>G) c.364A>G (p.Ser122Gly) c.418A>G (p.Ser140Gly) c.556A>G (p.Ser186Gly) c.487A>G (p.Ser163Gly) |