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.186197047T>A | CA358947479 | CYP4V2 | c.521T>A (p.Val174Asp) n.960T>A c.125T>A (p.Val42Asp) | |
| 4 | g.186197047T>C | CA3162576 | CYP4V2 | c.521T>C (p.Val174Ala) n.960T>C c.125T>C (p.Val42Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186197047T>G | CA358947480 | CYP4V2 | c.521T>G (p.Val174Gly) n.960T>G c.125T>G (p.Val42Gly) | |
| 4 | g.186197047T= | CA1519918534 | CYP4V2 | c.521T= (p.Val174=) n.960T= c.125T= (p.Val42=) | |
| 4 | g.186197048T>A | CA442638945 | CYP4V2 | c.522T>A (p.Val174=) n.961T>A c.126T>A (p.Val42=) | |
| 4 | g.186197048T>C | CA442638947 | CYP4V2 | c.522T>C (p.Val174=) n.961T>C c.126T>C (p.Val42=) | |
| 4 | g.186197048T>G | CA442638948 | CYP4V2 | c.522T>G (p.Val174=) n.961T>G c.126T>G (p.Val42=) | |
| 4 | g.186197049A>C | CA358947481 | CYP4V2 | c.523A>C (p.Lys175Gln) n.962A>C c.127A>C (p.Lys43Gln) | |
| 4 | g.186197049A>G | CA358947483 | CYP4V2 | c.523A>G (p.Lys175Glu) n.962A>G c.127A>G (p.Lys43Glu) | |
| 4 | g.186197049A>T | CA358947482 | CYP4V2 | c.523A>T (p.Lys175Ter) n.962A>T c.127A>T (p.Lys43Ter) | |
| 4 | g.186197050A>C | CA358947484 | CYP4V2 | c.524A>C (p.Lys175Thr) n.963A>C c.128A>C (p.Lys43Thr) | |
| 4 | g.186197050A>G | CA358947485 | CYP4V2 | c.524A>G (p.Lys175Arg) n.963A>G c.128A>G (p.Lys43Arg) | |
| 4 | g.186197050A>T | CA358947486 | CYP4V2 | c.524A>T (p.Lys175Met) n.963A>T c.128A>T (p.Lys43Met) | |
| 4 | g.186197051G>A | CA442638952 | CYP4V2 | c.525G>A (p.Lys175=) n.964G>A c.129G>A (p.Lys43=) | |
| 4 | g.186197051G>C | CA358947487 | CYP4V2 | c.525G>C (p.Lys175Asn) n.964G>C c.129G>C (p.Lys43Asn) | |
| 4 | g.186197051G>T | CA358947488 | CYP4V2 | c.525G>T (p.Lys175Asn) n.964G>T c.129G>T (p.Lys43Asn) | |
| 4 | g.186197052A>C | CA358947489 | CYP4V2 | c.526A>C (p.Lys176Gln) n.965A>C c.130A>C (p.Lys44Gln) | |
| 4 | g.186197052A>G | CA358947490 | CYP4V2 | c.526A>G (p.Lys176Glu) n.965A>G c.130A>G (p.Lys44Glu) | gnomAD v4 |
| 4 | g.186197052A>T | CA358947491 | CYP4V2 | c.526A>T (p.Lys176Ter) n.965A>T c.130A>T (p.Lys44Ter) | gnomAD v4 |
| 4 | g.186197053A= | CA1519918538 | CYP4V2 | c.527A= (p.Lys176=) n.966A= c.131A= (p.Lys44=) | |
| 4 | g.186197053A>C | CA358947492 | CYP4V2 | c.527A>C (p.Lys176Thr) n.966A>C c.131A>C (p.Lys44Thr) | |
| 4 | g.186197053A>G | CA358947493 | CYP4V2 | c.527A>G (p.Lys176Arg) n.966A>G c.131A>G (p.Lys44Arg) | dbSNP |
| 4 | g.186197053A>T | CA358947494 | CYP4V2 | c.527A>T (p.Lys176Ile) n.966A>T c.131A>T (p.Lys44Ile) | |
| 4 | g.186197054A>C | CA358947495 | CYP4V2 | c.528A>C (p.Lys176Asn) n.967A>C c.132A>C (p.Lys44Asn) | |
| 4 | g.186197054A>G | CA442638955 | CYP4V2 | c.528A>G (p.Lys176=) n.967A>G c.132A>G (p.Lys44=) | |
| 4 | g.186197054A>T | CA358947496 | CYP4V2 | c.528A>T (p.Lys176Asn) n.967A>T c.132A>T (p.Lys44Asn) | |
| 4 | g.186197055C>A | CA358947497 | CYP4V2 | c.529C>A (p.Leu177Ile) n.968C>A c.133C>A (p.Leu45Ile) | |
| 4 | g.186197055C>G | CA358947499 | CYP4V2 | c.529C>G (p.Leu177Val) n.968C>G c.133C>G (p.Leu45Val) | |
| 4 | g.186197055C>T | CA358947498 | CYP4V2 | c.529C>T (p.Leu177Phe) n.968C>T c.133C>T (p.Leu45Phe) | |
| 4 | g.186197056T>A | CA358947500 | CYP4V2 | c.530T>A (p.Leu177His) n.969T>A c.134T>A (p.Leu45His) | gnomAD v4 |
| 4 | g.186197056T>C | CA358947501 | CYP4V2 | c.530T>C (p.Leu177Pro) n.969T>C c.134T>C (p.Leu45Pro) | |
| 4 | g.186197056T>G | CA358947502 | CYP4V2 | c.530T>G (p.Leu177Arg) n.969T>G c.134T>G (p.Leu45Arg) | |
| 4 | g.186197057T>A | CA442638961 | CYP4V2 | c.531T>A (p.Leu177=) n.970T>A c.135T>A (p.Leu45=) | |
| 4 | g.186197057T>C | CA442638963 | CYP4V2 | c.531T>C (p.Leu177=) n.970T>C c.135T>C (p.Leu45=) | |
| 4 | g.186197057T>G | CA442638965 | CYP4V2 | c.531T>G (p.Leu177=) n.970T>G c.135T>G (p.Leu45=) | |
| 4 | g.186197058G>A | CA358947503 | CYP4V2 | c.532G>A (p.Glu178Lys) n.971G>A c.136G>A (p.Glu46Lys) | |
| 4 | g.186197058G>C | CA358947504 | CYP4V2 | c.532G>C (p.Glu178Gln) n.971G>C c.136G>C (p.Glu46Gln) | |
| 4 | g.186197058G>T | CA358947505 | CYP4V2 | c.532G>T (p.Glu178Ter) n.971G>T c.136G>T (p.Glu46Ter) | |
| 4 | g.186197059A= | CA1519918541 | CYP4V2 | c.533A= (p.Glu178=) n.972A= c.137A= (p.Glu46=) | |
| 4 | g.186197059A>C | CA358947506 | CYP4V2 | c.533A>C (p.Glu178Ala) n.972A>C c.137A>C (p.Glu46Ala) | |
| 4 | g.186197059A>G | CA358947507 | CYP4V2 | c.533A>G (p.Glu178Gly) n.972A>G c.137A>G (p.Glu46Gly) | |
| 4 | g.186197059A>T | CA358947508 | CYP4V2 | c.533A>T (p.Glu178Val) n.972A>T c.137A>T (p.Glu46Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186197060A= | CA1519918546 | CYP4V2 | c.534A= (p.Glu178=) n.973A= c.138A= (p.Glu46=) | |
| 4 | g.186197060A>C | CA358947510 | CYP4V2 | c.534A>C (p.Glu178Asp) n.973A>C c.138A>C (p.Glu46Asp) | gnomAD v4 |
| 4 | g.186197060A>G | CA3162577 | CYP4V2 | c.534A>G (p.Glu178=) n.973A>G c.138A>G (p.Glu46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186197060A>T | CA358947509 | CYP4V2 | c.534A>T (p.Glu178Asp) n.973A>T c.138A>T (p.Glu46Asp) | |
| 4 | g.186197061A>C | CA358947511 | CYP4V2 | c.535A>C (p.Lys179Gln) n.974A>C c.139A>C (p.Lys47Gln) | |
| 4 | g.186197061A>G | CA358947512 | CYP4V2 | c.535A>G (p.Lys179Glu) n.974A>G c.139A>G (p.Lys47Glu) | |
| 4 | g.186197061A>T | CA358947513 | CYP4V2 | c.535A>T (p.Lys179Ter) n.974A>T c.139A>T (p.Lys47Ter) | |
| 4 | g.186197062A>C | CA358947514 | CYP4V2 | c.536A>C (p.Lys179Thr) n.975A>C c.140A>C (p.Lys47Thr) |