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 |
|---|---|---|---|---|---|
| X | g.49217755_49221080del | CA916084263 | CACNA1F | c.2290_3089+1del c.2128_2927+1del c.2323_3122+1del | |
| X | g.49219344G>A | CA255942 | CACNA1F | c.2650C>T (p.Arg884Ter) c.2488C>T (p.Arg830Ter) c.2683C>T (p.Arg895Ter) c.-84C>T (n.-84C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.49219344G>C | CA412965206 | CACNA1F | c.2650C>G (p.Arg884Gly) c.2488C>G (p.Arg830Gly) c.2683C>G (p.Arg895Gly) c.-84C>G (n.-84C>G) | dbSNP gnomAD v4 |
| X | g.49219344G= | CA2428540671 | CACNA1F | c.2650C= (p.Arg884=) c.2488C= (p.Arg830=) c.2683C= (p.Arg895=) c.-84C= (n.-84C=) | |
| X | g.49219344G>T | CA516377680 | CACNA1F | c.2650C>A (p.Arg884=) c.2488C>A (p.Arg830=) c.2683C>A (p.Arg895=) c.-84C>A (n.-84C>A) | |
| X | g.49219345G>A | CA516377681 | CACNA1F | c.2649C>T (p.Ile883=) c.2487C>T (p.Ile829=) c.2682C>T (p.Ile894=) c.-85C>T (n.-85C>T) | |
| X | g.49219345G>C | CA412965207 | CACNA1F | c.2649C>G (p.Ile883Met) c.2487C>G (p.Ile829Met) c.2682C>G (p.Ile894Met) c.-85C>G (n.-85C>G) | COSMIC |
| X | g.49219345G= | CA2428540672 | CACNA1F | c.2649C= (p.Ile883=) c.2487C= (p.Ile829=) c.2682C= (p.Ile894=) c.-85C= (n.-85C=) | |
| X | g.49219345G>T | CA329141443 | CACNA1F | c.2649C>A (p.Ile883=) c.2487C>A (p.Ile829=) c.2682C>A (p.Ile894=) c.-85C>A (n.-85C>A) | ClinVar dbSNP |
| X | g.49219346A>C | CA412965208 | CACNA1F | c.2648T>G (p.Ile883Ser) c.2486T>G (p.Ile829Ser) c.2681T>G (p.Ile894Ser) | |
| X | g.49219346A>G | CA412965209 | CACNA1F | c.2648T>C (p.Ile883Thr) c.2486T>C (p.Ile829Thr) c.2681T>C (p.Ile894Thr) | |
| X | g.49219346A>T | CA412965210 | CACNA1F | c.2648T>A (p.Ile883Asn) c.2486T>A (p.Ile829Asn) c.2681T>A (p.Ile894Asn) | |
| X | g.49219347T>A | CA412965211 | CACNA1F | c.2647A>T (p.Ile883Phe) c.2485A>T (p.Ile829Phe) c.2680A>T (p.Ile894Phe) | |
| X | g.49219347T>C | CA412965212 | CACNA1F | c.2647A>G (p.Ile883Val) c.2485A>G (p.Ile829Val) c.2680A>G (p.Ile894Val) | |
| X | g.49219347T>G | CA412965213 | CACNA1F | c.2647A>C (p.Ile883Leu) c.2485A>C (p.Ile829Leu) c.2680A>C (p.Ile894Leu) | ClinVar dbSNP |
| X | g.49219348G>A | CA516377682 | CACNA1F | c.2646C>T (p.Pro882=) c.2484C>T (p.Pro828=) c.2679C>T (p.Pro893=) | |
| X | g.49219348G>C | CA516377683 | CACNA1F | c.2646C>G (p.Pro882=) c.2484C>G (p.Pro828=) c.2679C>G (p.Pro893=) | |
| X | g.49219348G>T | CA516377684 | CACNA1F | c.2646C>A (p.Pro882=) c.2484C>A (p.Pro828=) c.2679C>A (p.Pro893=) | |
| X | g.49219349G>A | CA412965216 | CACNA1F | c.2645C>T (p.Pro882Leu) c.2483C>T (p.Pro828Leu) c.2678C>T (p.Pro893Leu) | ClinVar dbSNP |
| X | g.49219349G>C | CA412965214 | CACNA1F | c.2645C>G (p.Pro882Arg) c.2483C>G (p.Pro828Arg) c.2678C>G (p.Pro893Arg) | |
| X | g.49219349G>T | CA412965215 | CACNA1F | c.2645C>A (p.Pro882His) c.2483C>A (p.Pro828His) c.2678C>A (p.Pro893His) | gnomAD v4 |
| X | g.49219350G>A | CA412965217 | CACNA1F | c.2644C>T (p.Pro882Ser) c.2482C>T (p.Pro828Ser) c.2677C>T (p.Pro893Ser) | |
| X | g.49219350G>C | CA412965218 | CACNA1F | c.2644C>G (p.Pro882Ala) c.2482C>G (p.Pro828Ala) c.2677C>G (p.Pro893Ala) | |
| X | g.49219350G>T | CA412965219 | CACNA1F | c.2644C>A (p.Pro882Thr) c.2482C>A (p.Pro828Thr) c.2677C>A (p.Pro893Thr) | |
| X | g.49219351G>A | CA516377685 | CACNA1F | c.2643C>T (p.Asp881=) c.2481C>T (p.Asp827=) c.2676C>T (p.Asp892=) | gnomAD v4 |
| X | g.49219351G>C | CA412965220 | CACNA1F | c.2643C>G (p.Asp881Glu) c.2481C>G (p.Asp827Glu) c.2676C>G (p.Asp892Glu) | |
| X | g.49219351G>T | CA412965221 | CACNA1F | c.2643C>A (p.Asp881Glu) c.2481C>A (p.Asp827Glu) c.2676C>A (p.Asp892Glu) | |
| X | g.49219352T>A | CA412965222 | CACNA1F | c.2642A>T (p.Asp881Val) c.2480A>T (p.Asp827Val) c.2675A>T (p.Asp892Val) | |
| X | g.49219352T>C | CA412965223 | CACNA1F | c.2642A>G (p.Asp881Gly) c.2480A>G (p.Asp827Gly) c.2675A>G (p.Asp892Gly) | |
| X | g.49219352T>G | CA10410633 | CACNA1F | c.2642A>C (p.Asp881Ala) c.2480A>C (p.Asp827Ala) c.2675A>C (p.Asp892Ala) | dbSNP ExAC |
| X | g.49219352T= | CA2428540673 | CACNA1F | c.2642A= (p.Asp881=) c.2480A= (p.Asp827=) c.2675A= (p.Asp892=) | |
| X | g.49219353C>A | CA412965224 | CACNA1F | c.2641G>T (p.Asp881Tyr) c.2479G>T (p.Asp827Tyr) c.2674G>T (p.Asp892Tyr) | |
| X | g.49219353C>G | CA412965225 | CACNA1F | c.2641G>C (p.Asp881His) c.2479G>C (p.Asp827His) c.2674G>C (p.Asp892His) | |
| X | g.49219353C>T | CA412965226 | CACNA1F | c.2641G>A (p.Asp881Asn) c.2479G>A (p.Asp827Asn) c.2674G>A (p.Asp892Asn) | |
| X | g.49219354C>A | CA412965227 | CACNA1F | c.2640G>T (p.Glu880Asp) c.2478G>T (p.Glu826Asp) c.2673G>T (p.Glu891Asp) | |
| X | g.49219354C= | CA2428540674 | CACNA1F | c.2640G= (p.Glu880=) c.2478G= (p.Glu826=) c.2673G= (p.Glu891=) | |
| X | g.49219354C>G | CA412965228 | CACNA1F | c.2640G>C (p.Glu880Asp) c.2478G>C (p.Glu826Asp) c.2673G>C (p.Glu891Asp) | |
| X | g.49219354C>T | CA10410634 | CACNA1F | c.2640G>A (p.Glu880=) c.2478G>A (p.Glu826=) c.2673G>A (p.Glu891=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.49219355T>A | CA412965229 | CACNA1F | c.2639A>T (p.Glu880Val) c.2477A>T (p.Glu826Val) c.2672A>T (p.Glu891Val) | |
| X | g.49219355T>C | CA412965230 | CACNA1F | c.2639A>G (p.Glu880Gly) c.2477A>G (p.Glu826Gly) c.2672A>G (p.Glu891Gly) | |
| X | g.49219355T>G | CA412965231 | CACNA1F | c.2639A>C (p.Glu880Ala) c.2477A>C (p.Glu826Ala) c.2672A>C (p.Glu891Ala) | |
| X | g.49219356C>A | CA412965232 | CACNA1F | c.2638G>T (p.Glu880Ter) c.2476G>T (p.Glu826Ter) c.2671G>T (p.Glu891Ter) | gnomAD v4 |
| X | g.49219356C>G | CA412965233 | CACNA1F | c.2638G>C (p.Glu880Gln) c.2476G>C (p.Glu826Gln) c.2671G>C (p.Glu891Gln) | |
| X | g.49219356C>T | CA412965234 | CACNA1F | c.2638G>A (p.Glu880Lys) c.2476G>A (p.Glu826Lys) c.2671G>A (p.Glu891Lys) | ClinVar dbSNP |
| X | g.49219357A>C | CA516377686 | CACNA1F | c.2637T>G (p.Ala879=) c.2475T>G (p.Ala825=) c.2670T>G (p.Ala890=) | |
| X | g.49219357A>G | CA516377687 | CACNA1F | c.2637T>C (p.Ala879=) c.2475T>C (p.Ala825=) c.2670T>C (p.Ala890=) | |
| X | g.49219357A>T | CA516377688 | CACNA1F | c.2637T>A (p.Ala879=) c.2475T>A (p.Ala825=) c.2670T>A (p.Ala890=) | |
| X | g.49219358G>A | CA412965236 | CACNA1F | c.2636C>T (p.Ala879Val) c.2474C>T (p.Ala825Val) c.2669C>T (p.Ala890Val) | |
| X | g.49219358G>C | CA412965237 | CACNA1F | c.2636C>G (p.Ala879Gly) c.2474C>G (p.Ala825Gly) c.2669C>G (p.Ala890Gly) | |
| X | g.49219358G>T | CA412965235 | CACNA1F | c.2636C>A (p.Ala879Asp) c.2474C>A (p.Ala825Asp) c.2669C>A (p.Ala890Asp) |