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.44419725T>A | CA409107321 | HNF4A | c.675T>A (p.Asn225Lys) c.741T>A (p.Asn247Lys) c.715T>A n.717T>A n.1865T>A c.*508T>A (n.*508T>A) c.666T>A (p.Asn222Lys) c.720T>A (p.Asn240Lys) c.858T>A (p.Asn286Lys) c.789T>A (p.Asn263Lys) | gnomAD v3 gnomAD v4 |
| 20 | g.44419725T>C | CA510582811 | HNF4A | c.675T>C (p.Asn225=) c.741T>C (p.Asn247=) c.715T>C n.717T>C n.1865T>C c.*508T>C (n.*508T>C) c.666T>C (p.Asn222=) c.720T>C (p.Asn240=) c.858T>C (p.Asn286=) c.789T>C (p.Asn263=) | |
| 20 | g.44419725T>G | CA409107322 | HNF4A | c.675T>G (p.Asn225Lys) c.741T>G (p.Asn247Lys) c.715T>G n.717T>G n.1865T>G c.*508T>G (n.*508T>G) c.666T>G (p.Asn222Lys) c.720T>G (p.Asn240Lys) c.858T>G (p.Asn286Lys) c.789T>G (p.Asn263Lys) | |
| 20 | g.44419726G>A | CA409107324 | HNF4A | c.676G>A (p.Asp226Asn) c.742G>A (p.Asp248Asn) c.716G>A n.718G>A n.1866G>A c.*509G>A (n.*509G>A) c.667G>A (p.Asp223Asn) c.721G>A (p.Asp241Asn) c.859G>A (p.Asp287Asn) c.790G>A (p.Asp264Asn) | |
| 20 | g.44419726G>C | CA409107325 | HNF4A | c.676G>C (p.Asp226His) c.742G>C (p.Asp248His) c.716G>C n.718G>C n.1866G>C c.*509G>C (n.*509G>C) c.667G>C (p.Asp223His) c.721G>C (p.Asp241His) c.859G>C (p.Asp287His) c.790G>C (p.Asp264His) | |
| 20 | g.44419726G>T | CA409107323 | HNF4A | c.676G>T (p.Asp226Tyr) c.742G>T (p.Asp248Tyr) c.716G>T n.718G>T n.1866G>T c.*509G>T (n.*509G>T) c.667G>T (p.Asp223Tyr) c.721G>T (p.Asp241Tyr) c.859G>T (p.Asp287Tyr) c.790G>T (p.Asp264Tyr) | gnomAD v4 |
| 20 | g.44419727A>C | CA409107326 | HNF4A | c.677A>C (p.Asp226Ala) c.743A>C (p.Asp248Ala) c.717A>C n.719A>C n.1867A>C c.*510A>C (n.*510A>C) c.668A>C (p.Asp223Ala) c.722A>C (p.Asp241Ala) c.860A>C (p.Asp287Ala) c.791A>C (p.Asp264Ala) | |
| 20 | g.44419727A>G | CA409107328 | HNF4A | c.677A>G (p.Asp226Gly) c.743A>G (p.Asp248Gly) c.717A>G n.719A>G n.1867A>G c.*510A>G (n.*510A>G) c.668A>G (p.Asp223Gly) c.722A>G (p.Asp241Gly) c.860A>G (p.Asp287Gly) c.791A>G (p.Asp264Gly) | |
| 20 | g.44419727A>T | CA409107327 | HNF4A | c.677A>T (p.Asp226Val) c.743A>T (p.Asp248Val) c.717A>T n.719A>T n.1867A>T c.*510A>T (n.*510A>T) c.668A>T (p.Asp223Val) c.722A>T (p.Asp241Val) c.860A>T (p.Asp287Val) c.791A>T (p.Asp264Val) | ClinVar gnomAD v4 |
| 20 | g.44419728C>A | CA409107329 | HNF4A | c.678C>A (p.Asp226Glu) c.744C>A (p.Asp248Glu) c.718C>A n.720C>A n.1868C>A c.*511C>A (n.*511C>A) c.669C>A (p.Asp223Glu) c.723C>A (p.Asp241Glu) c.861C>A (p.Asp287Glu) c.792C>A (p.Asp264Glu) | gnomAD v4 |
| 20 | g.44419728C= | CA2365764282 | HNF4A | c.678C= (p.Asp226=) c.744C= (p.Asp248=) c.718C= n.720C= n.1868C= c.*511C= (n.*511C=) c.669C= (p.Asp223=) c.723C= (p.Asp241=) c.861C= (p.Asp287=) c.792C= (p.Asp264=) | |
| 20 | g.44419728C>G | CA409107330 | HNF4A | c.678C>G (p.Asp226Glu) c.744C>G (p.Asp248Glu) c.718C>G n.720C>G n.1868C>G c.*511C>G (n.*511C>G) c.669C>G (p.Asp223Glu) c.723C>G (p.Asp241Glu) c.861C>G (p.Asp287Glu) c.792C>G (p.Asp264Glu) | |
| 20 | g.44419728C>T | CA510582812 | HNF4A | c.678C>T (p.Asp226=) c.744C>T (p.Asp248=) c.718C>T n.720C>T n.1868C>T c.*511C>T (n.*511C>T) c.669C>T (p.Asp223=) c.723C>T (p.Asp241=) c.861C>T (p.Asp287=) c.792C>T (p.Asp264=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44419729T>A | CA409107331 | HNF4A | c.679T>A (p.Tyr227Asn) c.745T>A (p.Tyr249Asn) c.719T>A n.721T>A n.1869T>A c.*512T>A (n.*512T>A) c.670T>A (p.Tyr224Asn) c.724T>A (p.Tyr242Asn) c.862T>A (p.Tyr288Asn) c.793T>A (p.Tyr265Asn) | gnomAD v4 |
| 20 | g.44419729T>C | CA409107333 | HNF4A | c.679T>C (p.Tyr227His) c.745T>C (p.Tyr249His) c.719T>C n.721T>C n.1869T>C c.*512T>C (n.*512T>C) c.670T>C (p.Tyr224His) c.724T>C (p.Tyr242His) c.862T>C (p.Tyr288His) c.793T>C (p.Tyr265His) | |
| 20 | g.44419729T>G | CA409107332 | HNF4A | c.679T>G (p.Tyr227Asp) c.745T>G (p.Tyr249Asp) c.719T>G n.721T>G n.1869T>G c.*512T>G (n.*512T>G) c.670T>G (p.Tyr224Asp) c.724T>G (p.Tyr242Asp) c.862T>G (p.Tyr288Asp) c.793T>G (p.Tyr265Asp) | |
| 20 | g.44419730A>C | CA409107334 | HNF4A | c.680A>C (p.Tyr227Ser) c.746A>C (p.Tyr249Ser) c.720A>C n.722A>C n.1870A>C c.*513A>C (n.*513A>C) c.671A>C (p.Tyr224Ser) c.725A>C (p.Tyr242Ser) c.863A>C (p.Tyr288Ser) c.794A>C (p.Tyr265Ser) | |
| 20 | g.44419730A>G | CA409107336 | HNF4A | c.680A>G (p.Tyr227Cys) c.746A>G (p.Tyr249Cys) c.720A>G n.722A>G n.1870A>G c.*513A>G (n.*513A>G) c.671A>G (p.Tyr224Cys) c.725A>G (p.Tyr242Cys) c.863A>G (p.Tyr288Cys) c.794A>G (p.Tyr265Cys) | |
| 20 | g.44419730A>T | CA409107335 | HNF4A | c.680A>T (p.Tyr227Phe) c.746A>T (p.Tyr249Phe) c.720A>T n.722A>T n.1870A>T c.*513A>T (n.*513A>T) c.671A>T (p.Tyr224Phe) c.725A>T (p.Tyr242Phe) c.863A>T (p.Tyr288Phe) c.794A>T (p.Tyr265Phe) | |
| 20 | g.44419735_44419736insCCCTCGGCACTGCCCACATTG | CA2582342725 | HNF4A | c.685_686insCCCTCGGCACTGCCCACATTG (p.Ile228_Val229insAlaLeuGlyThrAlaHisIle) c.751_752insCCCTCGGCACTGCCCACATTG (p.Ile250_Val251insAlaLeuGlyThrAlaHisIle) c.725_726insCCCTCGGCACTGCCCACATTG n.727_728insCCCTCGGCACTGCCCACATTG n.1875_1876insCCCTCGGCACTGCCCACATTG c.*518_*519insCCCTCGGCACTGCCCACATTG (n.*518_*519insCCCTCGGCACTGCCCACATTG) c.676_677insCCCTCGGCACTGCCCACATTG (p.Ile225_Val226insAlaLeuGlyThrAlaHisIle) c.730_731insCCCTCGGCACTGCCCACATTG (p.Ile243_Val244insAlaLeuGlyThrAlaHisIle) c.868_869insCCCTCGGCACTGCCCACATTG (p.Ile289_Val290insAlaLeuGlyThrAlaHisIle) c.799_800insCCCTCGGCACTGCCCACATTG (p.Ile266_Val267insAlaLeuGlyThrAlaHisIle) | ClinVar |
| 20 | g.44419731C>A | CA409107337 | HNF4A | c.681C>A (p.Tyr227Ter) c.747C>A (p.Tyr249Ter) c.721C>A n.723C>A n.1871C>A c.*514C>A (n.*514C>A) c.672C>A (p.Tyr224Ter) c.726C>A (p.Tyr242Ter) c.864C>A (p.Tyr288Ter) c.795C>A (p.Tyr265Ter) | gnomAD v4 |
| 20 | g.44419731C>G | CA409107338 | HNF4A | c.681C>G (p.Tyr227Ter) c.747C>G (p.Tyr249Ter) c.721C>G n.723C>G n.1871C>G c.*514C>G (n.*514C>G) c.672C>G (p.Tyr224Ter) c.726C>G (p.Tyr242Ter) c.864C>G (p.Tyr288Ter) c.795C>G (p.Tyr265Ter) | |
| 20 | g.44419731C>T | CA510582813 | HNF4A | c.681C>T (p.Tyr227=) c.747C>T (p.Tyr249=) c.721C>T n.723C>T n.1871C>T c.*514C>T (n.*514C>T) c.672C>T (p.Tyr224=) c.726C>T (p.Tyr242=) c.864C>T (p.Tyr288=) c.795C>T (p.Tyr265=) | |
| 20 | g.44419732A= | CA2365764283 | HNF4A | c.682A= (p.Ile228=) c.748A= (p.Ile250=) c.722A= n.724A= n.1872A= c.*515A= (n.*515A=) c.673A= (p.Ile225=) c.727A= (p.Ile243=) c.865A= (p.Ile289=) c.796A= (p.Ile266=) | |
| 20 | g.44419732A>C | CA409107339 | HNF4A | c.682A>C (p.Ile228Leu) c.748A>C (p.Ile250Leu) c.722A>C n.724A>C n.1872A>C c.*515A>C (n.*515A>C) c.673A>C (p.Ile225Leu) c.727A>C (p.Ile243Leu) c.865A>C (p.Ile289Leu) c.796A>C (p.Ile266Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44419732A>G | CA9870360 | HNF4A | c.682A>G (p.Ile228Val) c.748A>G (p.Ile250Val) c.722A>G n.724A>G n.1872A>G c.*515A>G (n.*515A>G) c.673A>G (p.Ile225Val) c.727A>G (p.Ile243Val) c.865A>G (p.Ile289Val) c.796A>G (p.Ile266Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44419732A>T | CA409107340 | HNF4A | c.682A>T (p.Ile228Phe) c.748A>T (p.Ile250Phe) c.722A>T n.724A>T n.1872A>T c.*515A>T (n.*515A>T) c.673A>T (p.Ile225Phe) c.727A>T (p.Ile243Phe) c.865A>T (p.Ile289Phe) c.796A>T (p.Ile266Phe) | |
| 20 | g.44419733T>A | CA409107341 | HNF4A | c.683T>A (p.Ile228Asn) c.749T>A (p.Ile250Asn) c.723T>A n.725T>A n.1873T>A c.*516T>A (n.*516T>A) c.674T>A (p.Ile225Asn) c.728T>A (p.Ile243Asn) c.866T>A (p.Ile289Asn) c.797T>A (p.Ile266Asn) | gnomAD v4 |
| 20 | g.44419733T>C | CA409107342 | HNF4A | c.683T>C (p.Ile228Thr) c.749T>C (p.Ile250Thr) c.723T>C n.725T>C n.1873T>C c.*516T>C (n.*516T>C) c.674T>C (p.Ile225Thr) c.728T>C (p.Ile243Thr) c.866T>C (p.Ile289Thr) c.797T>C (p.Ile266Thr) | dbSNP |
| 20 | g.44419733T>G | CA409107343 | HNF4A | c.683T>G (p.Ile228Ser) c.749T>G (p.Ile250Ser) c.723T>G n.725T>G n.1873T>G c.*516T>G (n.*516T>G) c.674T>G (p.Ile225Ser) c.728T>G (p.Ile243Ser) c.866T>G (p.Ile289Ser) c.797T>G (p.Ile266Ser) | |
| 20 | g.44419733T= | CA2365764284 | HNF4A | c.683T= (p.Ile228=) c.749T= (p.Ile250=) c.723T= n.725T= n.1873T= c.*516T= (n.*516T=) c.674T= (p.Ile225=) c.728T= (p.Ile243=) c.866T= (p.Ile289=) c.797T= (p.Ile266=) | |
| 20 | g.44419734T>A | CA510582814 | HNF4A | c.684T>A (p.Ile228=) c.750T>A (p.Ile250=) c.724T>A n.726T>A n.1874T>A c.*517T>A (n.*517T>A) c.675T>A (p.Ile225=) c.729T>A (p.Ile243=) c.867T>A (p.Ile289=) c.798T>A (p.Ile266=) | |
| 20 | g.44419734T>C | CA510582815 | HNF4A | c.684T>C (p.Ile228=) c.750T>C (p.Ile250=) c.724T>C n.726T>C n.1874T>C c.*517T>C (n.*517T>C) c.675T>C (p.Ile225=) c.729T>C (p.Ile243=) c.867T>C (p.Ile289=) c.798T>C (p.Ile266=) | |
| 20 | g.44419734T>G | CA409107344 | HNF4A | c.684T>G (p.Ile228Met) c.750T>G (p.Ile250Met) c.724T>G n.726T>G n.1874T>G c.*517T>G (n.*517T>G) c.675T>G (p.Ile225Met) c.729T>G (p.Ile243Met) c.867T>G (p.Ile289Met) c.798T>G (p.Ile266Met) | |
| 20 | g.44419735G>A | CA409107345 | HNF4A | c.685G>A (p.Val229Ile) c.751G>A (p.Val251Ile) c.725G>A n.727G>A n.1875G>A c.*518G>A (n.*518G>A) c.676G>A (p.Val226Ile) c.730G>A (p.Val244Ile) c.868G>A (p.Val290Ile) c.799G>A (p.Val267Ile) | gnomAD v4 |
| 20 | g.44419735G>C | CA409107346 | HNF4A | c.685G>C (p.Val229Leu) c.751G>C (p.Val251Leu) c.725G>C n.727G>C n.1875G>C c.*518G>C (n.*518G>C) c.676G>C (p.Val226Leu) c.730G>C (p.Val244Leu) c.868G>C (p.Val290Leu) c.799G>C (p.Val267Leu) | |
| 20 | g.44419735G>T | CA409107347 | HNF4A | c.685G>T (p.Val229Phe) c.751G>T (p.Val251Phe) c.725G>T n.727G>T n.1875G>T c.*518G>T (n.*518G>T) c.676G>T (p.Val226Phe) c.730G>T (p.Val244Phe) c.868G>T (p.Val290Phe) c.799G>T (p.Val267Phe) | gnomAD v4 |
| 20 | g.44419736T>A | CA409107348 | HNF4A | c.686T>A (p.Val229Asp) c.752T>A (p.Val251Asp) c.726T>A n.728T>A n.1876T>A c.*519T>A (n.*519T>A) c.677T>A (p.Val226Asp) c.731T>A (p.Val244Asp) c.869T>A (p.Val290Asp) c.800T>A (p.Val267Asp) | |
| 20 | g.44419736T>C | CA409107349 | HNF4A | c.686T>C (p.Val229Ala) c.752T>C (p.Val251Ala) c.726T>C n.728T>C n.1876T>C c.*519T>C (n.*519T>C) c.677T>C (p.Val226Ala) c.731T>C (p.Val244Ala) c.869T>C (p.Val290Ala) c.800T>C (p.Val267Ala) | |
| 20 | g.44419736T>G | CA409107350 | HNF4A | c.686T>G (p.Val229Gly) c.752T>G (p.Val251Gly) c.726T>G n.728T>G n.1876T>G c.*519T>G (n.*519T>G) c.677T>G (p.Val226Gly) c.731T>G (p.Val244Gly) c.869T>G (p.Val290Gly) c.800T>G (p.Val267Gly) | |
| 20 | g.44419737C>A | CA510582816 | HNF4A | c.687C>A (p.Val229=) c.753C>A (p.Val251=) c.727C>A n.729C>A n.1877C>A c.*520C>A (n.*520C>A) c.678C>A (p.Val226=) c.732C>A (p.Val244=) c.870C>A (p.Val290=) c.801C>A (p.Val267=) | gnomAD v4 |
| 20 | g.44419737C>G | CA510582818 | HNF4A | c.687C>G (p.Val229=) c.753C>G (p.Val251=) c.727C>G n.729C>G n.1877C>G c.*520C>G (n.*520C>G) c.678C>G (p.Val226=) c.732C>G (p.Val244=) c.870C>G (p.Val290=) c.801C>G (p.Val267=) | |
| 20 | g.44419737C>T | CA510582817 | HNF4A | c.687C>T (p.Val229=) c.753C>T (p.Val251=) c.727C>T n.729C>T n.1877C>T c.*520C>T (n.*520C>T) c.678C>T (p.Val226=) c.732C>T (p.Val244=) c.870C>T (p.Val290=) c.801C>T (p.Val267=) | gnomAD v4 |
| 20 | g.44419738C>A | CA409107353 | HNF4A | c.688C>A (p.Pro230Thr) c.754C>A (p.Pro252Thr) c.728C>A n.730C>A n.1878C>A c.*521C>A (n.*521C>A) c.679C>A (p.Pro227Thr) c.733C>A (p.Pro245Thr) c.871C>A (p.Pro291Thr) c.802C>A (p.Pro268Thr) | |
| 20 | g.44419738C>G | CA409107351 | HNF4A | c.688C>G (p.Pro230Ala) c.754C>G (p.Pro252Ala) c.728C>G n.730C>G n.1878C>G c.*521C>G (n.*521C>G) c.679C>G (p.Pro227Ala) c.733C>G (p.Pro245Ala) c.871C>G (p.Pro291Ala) c.802C>G (p.Pro268Ala) | |
| 20 | g.44419738C>T | CA409107352 | HNF4A | c.688C>T (p.Pro230Ser) c.754C>T (p.Pro252Ser) c.728C>T n.730C>T n.1878C>T c.*521C>T (n.*521C>T) c.679C>T (p.Pro227Ser) c.733C>T (p.Pro245Ser) c.871C>T (p.Pro291Ser) c.802C>T (p.Pro268Ser) | gnomAD v4 |
| 20 | g.44419739C>A | CA409107354 | HNF4A | c.689C>A (p.Pro230His) c.755C>A (p.Pro252His) c.729C>A n.731C>A n.1879C>A c.*522C>A (n.*522C>A) c.680C>A (p.Pro227His) c.734C>A (p.Pro245His) c.872C>A (p.Pro291His) c.803C>A (p.Pro268His) | |
| 20 | g.44419739C>G | CA409107355 | HNF4A | c.689C>G (p.Pro230Arg) c.755C>G (p.Pro252Arg) c.729C>G n.731C>G n.1879C>G c.*522C>G (n.*522C>G) c.680C>G (p.Pro227Arg) c.734C>G (p.Pro245Arg) c.872C>G (p.Pro291Arg) c.803C>G (p.Pro268Arg) | |
| 20 | g.44419739C>T | CA409107356 | HNF4A | c.689C>T (p.Pro230Leu) c.755C>T (p.Pro252Leu) c.729C>T n.731C>T n.1879C>T c.*522C>T (n.*522C>T) c.680C>T (p.Pro227Leu) c.734C>T (p.Pro245Leu) c.872C>T (p.Pro291Leu) c.803C>T (p.Pro268Leu) | ClinVar |
| 20 | g.44419740T>A | CA510582819 | HNF4A | c.690T>A (p.Pro230=) c.756T>A (p.Pro252=) c.730T>A n.732T>A n.1880T>A c.*523T>A (n.*523T>A) c.681T>A (p.Pro227=) c.735T>A (p.Pro245=) c.873T>A (p.Pro291=) c.804T>A (p.Pro268=) | gnomAD v4 |