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 |
|---|---|---|---|---|---|
| 4 | g.1801696A>C | CA355975596 | FGFR3 | c.692A>C (p.Glu231Ala) c.680A>C (p.Glu227Ala) n.68A>C c.152A>C (p.Glu51Ala) n.948A>C n.967A>C | |
| 4 | g.1801696A>G | CA355975597 | FGFR3 | c.692A>G (p.Glu231Gly) c.680A>G (p.Glu227Gly) n.68A>G c.152A>G (p.Glu51Gly) n.948A>G n.967A>G | ClinVar |
| 4 | g.1801696A>T | CA355975598 | FGFR3 | c.692A>T (p.Glu231Val) c.680A>T (p.Glu227Val) n.68A>T c.152A>T (p.Glu51Val) n.948A>T n.967A>T | |
| 4 | g.1801697G>A | CA438063233 | FGFR3 | c.693G>A (p.Glu231=) c.681G>A (p.Glu227=) n.69G>A c.153G>A (p.Glu51=) n.949G>A n.968G>A | dbSNP |
| 4 | g.1801697G>C | CA355975599 | FGFR3 | c.693G>C (p.Glu231Asp) c.681G>C (p.Glu227Asp) n.69G>C c.153G>C (p.Glu51Asp) n.949G>C n.968G>C | gnomAD v4 |
| 4 | g.1801697G>T | CA355975600 | FGFR3 | c.693G>T (p.Glu231Asp) c.681G>T (p.Glu227Asp) n.69G>T c.153G>T (p.Glu51Asp) n.949G>T n.968G>T | gnomAD v4 |
| 4 | g.1801698A>C | CA355975601 | FGFR3 | c.694A>C (p.Asn232His) c.682A>C (p.Asn228His) n.70A>C c.154A>C (p.Asn52His) n.950A>C n.969A>C | |
| 4 | g.1801698A>G | CA355975602 | FGFR3 | c.694A>G (p.Asn232Asp) c.682A>G (p.Asn228Asp) n.70A>G c.154A>G (p.Asn52Asp) n.950A>G n.969A>G | |
| 4 | g.1801698A>T | CA355975603 | FGFR3 | c.694A>T (p.Asn232Tyr) c.682A>T (p.Asn228Tyr) n.70A>T c.154A>T (p.Asn52Tyr) n.950A>T n.969A>T | |
| 4 | g.1801699A>C | CA355975604 | FGFR3 | c.695A>C (p.Asn232Thr) c.683A>C (p.Asn228Thr) n.71A>C c.155A>C (p.Asn52Thr) n.951A>C n.970A>C | |
| 4 | g.1801699A>G | CA355975605 | FGFR3 | c.695A>G (p.Asn232Ser) c.683A>G (p.Asn228Ser) n.71A>G c.155A>G (p.Asn52Ser) n.951A>G n.970A>G | |
| 4 | g.1801699A>T | CA355975606 | FGFR3 | c.695A>T (p.Asn232Ile) c.683A>T (p.Asn228Ile) n.71A>T c.155A>T (p.Asn52Ile) n.951A>T n.970A>T | |
| 4 | g.1801700C>A | CA355975607 | FGFR3 | c.696C>A (p.Asn232Lys) c.684C>A (p.Asn228Lys) n.72C>A c.156C>A (p.Asn52Lys) n.952C>A n.971C>A | gnomAD v4 |
| 4 | g.1801700C>G | CA355975608 | FGFR3 | c.696C>G (p.Asn232Lys) c.684C>G (p.Asn228Lys) n.72C>G c.156C>G (p.Asn52Lys) n.952C>G n.971C>G | |
| 4 | g.1801700C>T | CA438063239 | FGFR3 | c.696C>T (p.Asn232=) c.684C>T (p.Asn228=) n.72C>T c.156C>T (p.Asn52=) n.952C>T n.971C>T | |
| 4 | g.1801701A>C | CA355975611 | FGFR3 | c.697A>C (p.Lys233Gln) c.685A>C (p.Lys229Gln) n.73A>C c.157A>C (p.Lys53Gln) n.953A>C n.972A>C | |
| 4 | g.1801701A>G | CA355975610 | FGFR3 | c.697A>G (p.Lys233Glu) c.685A>G (p.Lys229Glu) n.73A>G c.157A>G (p.Lys53Glu) n.953A>G n.972A>G | gnomAD v3 gnomAD v4 |
| 4 | g.1801701A>T | CA355975609 | FGFR3 | c.697A>T (p.Lys233Ter) c.685A>T (p.Lys229Ter) n.73A>T c.157A>T (p.Lys53Ter) n.953A>T n.972A>T | |
| 4 | g.1801702A>C | CA355975615 | FGFR3 | c.698A>C (p.Lys233Thr) c.686A>C (p.Lys229Thr) n.74A>C c.158A>C (p.Lys53Thr) n.954A>C n.973A>C | |
| 4 | g.1801702A>G | CA355975613 | FGFR3 | c.698A>G (p.Lys233Arg) c.686A>G (p.Lys229Arg) n.74A>G c.158A>G (p.Lys53Arg) n.954A>G n.973A>G | |
| 4 | g.1801702A>T | CA355975617 | FGFR3 | c.698A>T (p.Lys233Met) c.686A>T (p.Lys229Met) n.74A>T c.158A>T (p.Lys53Met) n.954A>T n.973A>T | |
| 4 | g.1801702_1801703insAAACCAAACACACCCAACACA | CA2760148385 | FGFR3 | c.698_699insAAACCAAACACACCCAACACA (p.Lys233_Phe234insAsnGlnThrHisProThrGln) c.686_687insAAACCAAACACACCCAACACA (p.Lys229_Phe230insAsnGlnThrHisProThrGln) n.74_75insAAACCAAACACACCCAACACA c.158_159insAAACCAAACACACCCAACACA (p.Lys53_Phe54insAsnGlnThrHisProThrGln) n.954_955insAAACCAAACACACCCAACACA n.973_974insAAACCAAACACACCCAACACA | |
| 4 | g.1801703G>A | CA438063246 | FGFR3 | c.699G>A (p.Lys233=) c.687G>A (p.Lys229=) n.75G>A c.159G>A (p.Lys53=) n.955G>A n.974G>A | |
| 4 | g.1801703G>C | CA355975618 | FGFR3 | c.699G>C (p.Lys233Asn) c.687G>C (p.Lys229Asn) n.75G>C c.159G>C (p.Lys53Asn) n.955G>C n.974G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1801703G= | CA1433504956 | FGFR3 | c.699G= (p.Lys233=) c.687G= (p.Lys229=) n.75G= c.159G= (p.Lys53=) n.955G= n.974G= | |
| 4 | g.1801703G>T | CA355975619 | FGFR3 | c.699G>T (p.Lys233Asn) c.687G>T (p.Lys229Asn) n.75G>T c.159G>T (p.Lys53Asn) n.955G>T n.974G>T | |
| 4 | g.1801704T>A | CA355975621 | FGFR3 | c.700T>A (p.Phe234Ile) c.688T>A (p.Phe230Ile) n.76T>A c.160T>A (p.Phe54Ile) n.956T>A n.975T>A | dbSNP |
| 4 | g.1801704T>C | CA2809925 | FGFR3 | c.700T>C (p.Phe234Leu) c.688T>C (p.Phe230Leu) n.76T>C c.160T>C (p.Phe54Leu) n.956T>C n.975T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801704T>G | CA355975623 | FGFR3 | c.700T>G (p.Phe234Val) c.688T>G (p.Phe230Val) n.76T>G c.160T>G (p.Phe54Val) n.956T>G n.975T>G | dbSNP |
| 4 | g.1801704T= | CA1433504957 | FGFR3 | c.700T= (p.Phe234=) c.688T= (p.Phe230=) n.76T= c.160T= (p.Phe54=) n.956T= n.975T= | |
| 4 | g.1801705T>A | CA355975625 | FGFR3 | c.701T>A (p.Phe234Tyr) c.689T>A (p.Phe230Tyr) n.77T>A c.161T>A (p.Phe54Tyr) n.957T>A n.976T>A | |
| 4 | g.1801705T>C | CA355975629 | FGFR3 | c.701T>C (p.Phe234Ser) c.689T>C (p.Phe230Ser) n.77T>C c.161T>C (p.Phe54Ser) n.957T>C n.976T>C | gnomAD v4 |
| 4 | g.1801705T>G | CA355975627 | FGFR3 | c.701T>G (p.Phe234Cys) c.689T>G (p.Phe230Cys) n.77T>G c.161T>G (p.Phe54Cys) n.957T>G n.976T>G | |
| 4 | g.1801706T>A | CA355975630 | FGFR3 | c.702T>A (p.Phe234Leu) c.690T>A (p.Phe230Leu) n.78T>A c.162T>A (p.Phe54Leu) n.958T>A n.977T>A | |
| 4 | g.1801706T>C | CA438063254 | FGFR3 | c.702T>C (p.Phe234=) c.690T>C (p.Phe230=) n.78T>C c.162T>C (p.Phe54=) n.958T>C n.977T>C | |
| 4 | g.1801706T>G | CA355975632 | FGFR3 | c.702T>G (p.Phe234Leu) c.690T>G (p.Phe230Leu) n.78T>G c.162T>G (p.Phe54Leu) n.958T>G n.977T>G | |
| 4 | g.1801707G>A | CA355975634 | FGFR3 | c.703G>A (p.Gly235Ser) c.691G>A (p.Gly231Ser) n.79G>A c.163G>A (p.Gly55Ser) n.959G>A n.978G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1801707G>C | CA355975635 | FGFR3 | c.703G>C (p.Gly235Arg) c.691G>C (p.Gly231Arg) n.79G>C c.163G>C (p.Gly55Arg) n.959G>C n.978G>C | |
| 4 | g.1801707G= | CA1433504958 | FGFR3 | c.703G= (p.Gly235=) c.691G= (p.Gly231=) n.79G= c.163G= (p.Gly55=) n.959G= n.978G= | |
| 4 | g.1801707G>T | CA355975636 | FGFR3 | c.703G>T (p.Gly235Cys) c.691G>T (p.Gly231Cys) n.79G>T c.163G>T (p.Gly55Cys) n.959G>T n.978G>T | |
| 4 | g.1801708G>A | CA355975638 | FGFR3 | c.704G>A (p.Gly235Asp) c.692G>A (p.Gly231Asp) n.80G>A c.164G>A (p.Gly55Asp) n.960G>A n.979G>A | COSMIC COSMIC |
| 4 | g.1801708G>C | CA355975639 | FGFR3 | c.704G>C (p.Gly235Ala) c.692G>C (p.Gly231Ala) n.80G>C c.164G>C (p.Gly55Ala) n.960G>C n.979G>C | |
| 4 | g.1801708G>T | CA355975641 | FGFR3 | c.704G>T (p.Gly235Val) c.692G>T (p.Gly231Val) n.80G>T c.164G>T (p.Gly55Val) n.960G>T n.979G>T | |
| 4 | g.1801709C>A | CA438063258 | FGFR3 | c.705C>A (p.Gly235=) c.693C>A (p.Gly231=) n.81C>A c.165C>A (p.Gly55=) n.961C>A n.980C>A | |
| 4 | g.1801709C= | CA1433504959 | FGFR3 | c.705C= (p.Gly235=) c.693C= (p.Gly231=) n.81C= c.165C= (p.Gly55=) n.961C= n.980C= | |
| 4 | g.1801709C>G | CA438063259 | FGFR3 | c.705C>G (p.Gly235=) c.693C>G (p.Gly231=) n.81C>G c.165C>G (p.Gly55=) n.961C>G n.980C>G | dbSNP |
| 4 | g.1801709C>T | CA438063260 | FGFR3 | c.705C>T (p.Gly235=) c.693C>T (p.Gly231=) n.81C>T c.165C>T (p.Gly55=) n.961C>T n.980C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801710A>C | CA355975643 | FGFR3 | c.706A>C (p.Ser236Arg) c.694A>C (p.Ser232Arg) n.82A>C c.166A>C (p.Ser56Arg) n.962A>C n.981A>C | |
| 4 | g.1801710A>G | CA355975644 | FGFR3 | c.706A>G (p.Ser236Gly) c.694A>G (p.Ser232Gly) n.82A>G c.166A>G (p.Ser56Gly) n.962A>G n.981A>G | |
| 4 | g.1801710A>T | CA355975646 | FGFR3 | c.706A>T (p.Ser236Cys) c.694A>T (p.Ser232Cys) n.82A>T c.166A>T (p.Ser56Cys) n.962A>T n.981A>T |