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 |
|---|---|---|---|---|---|
| 6 | g.12295975A>C | CA448427939 | EDN1 | c.547A>C (p.Arg183=) c.544A>C (p.Arg182=) | |
| 6 | g.12295975A>G | CA362857245 | EDN1 | c.547A>G (p.Arg183Gly) c.544A>G (p.Arg182Gly) | |
| 6 | g.12295975A>T | CA362857246 | EDN1 | c.547A>T (p.Arg183Ter) c.544A>T (p.Arg182Ter) | |
| 6 | g.12295976G>A | CA362857247 | EDN1 | c.548G>A (p.Arg183Lys) c.545G>A (p.Arg182Lys) | dbSNP COSMIC |
| 6 | g.12295976G>C | CA362857248 | EDN1 | c.548G>C (p.Arg183Thr) c.545G>C (p.Arg182Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12295976G= | CA1610830874 | EDN1 | c.548G= (p.Arg183=) c.545G= (p.Arg182=) | |
| 6 | g.12295976G>T | CA362857249 | EDN1 | c.548G>T (p.Arg183Ile) c.545G>T (p.Arg182Ile) | |
| 6 | g.12295977A>C | CA362857250 | EDN1 | c.549A>C (p.Arg183Ser) c.546A>C (p.Arg182Ser) | |
| 6 | g.12295977A>G | CA448427940 | EDN1 | c.549A>G (p.Arg183=) c.546A>G (p.Arg182=) | |
| 6 | g.12295977A>T | CA362857251 | EDN1 | c.549A>T (p.Arg183Ser) c.546A>T (p.Arg182Ser) | |
| 6 | g.12295978A>C | CA362857252 | EDN1 | c.550A>C (p.Asn184His) c.547A>C (p.Asn183His) | |
| 6 | g.12295978A>G | CA362857253 | EDN1 | c.550A>G (p.Asn184Asp) c.547A>G (p.Asn183Asp) | |
| 6 | g.12295978A>T | CA362857254 | EDN1 | c.550A>T (p.Asn184Tyr) c.547A>T (p.Asn183Tyr) | |
| 6 | g.12295979A>C | CA362857257 | EDN1 | c.551A>C (p.Asn184Thr) c.548A>C (p.Asn183Thr) | |
| 6 | g.12295979A>G | CA362857256 | EDN1 | c.551A>G (p.Asn184Ser) c.548A>G (p.Asn183Ser) | |
| 6 | g.12295979A>T | CA362857255 | EDN1 | c.551A>T (p.Asn184Ile) c.548A>T (p.Asn183Ile) | |
| 6 | g.12295980_12295981del | CA2677350377 | EDN1 | c.552_553del (p.Asn184LysfsTer8) c.549_550del (p.Asn183LysfsTer8) | gnomAD v4 |
| 6 | g.12295980C>A | CA362857258 | EDN1 | c.552C>A (p.Asn184Lys) c.549C>A (p.Asn183Lys) | |
| 6 | g.12295980C>G | CA362857259 | EDN1 | c.552C>G (p.Asn184Lys) c.549C>G (p.Asn183Lys) | |
| 6 | g.12295980C>T | CA448427941 | EDN1 | c.552C>T (p.Asn184=) c.549C>T (p.Asn183=) | |
| 6 | g.12295981A>C | CA362857260 | EDN1 | c.553A>C (p.Ser185Arg) c.550A>C (p.Ser184Arg) | |
| 6 | g.12295981A>G | CA362857261 | EDN1 | c.553A>G (p.Ser185Gly) c.550A>G (p.Ser184Gly) | |
| 6 | g.12295981A>T | CA362857262 | EDN1 | c.553A>T (p.Ser185Cys) c.550A>T (p.Ser184Cys) | |
| 6 | g.12295982G>A | CA362857263 | EDN1 | c.554G>A (p.Ser185Asn) c.551G>A (p.Ser184Asn) | |
| 6 | g.12295982G>C | CA362857264 | EDN1 | c.554G>C (p.Ser185Thr) c.551G>C (p.Ser184Thr) | |
| 6 | g.12295982G>T | CA362857265 | EDN1 | c.554G>T (p.Ser185Ile) c.551G>T (p.Ser184Ile) | |
| 6 | g.12295983C>A | CA362857266 | EDN1 | c.555C>A (p.Ser185Arg) c.552C>A (p.Ser184Arg) | gnomAD v4 |
| 6 | g.12295983C= | CA1610830877 | EDN1 | c.555C= (p.Ser185=) c.552C= (p.Ser184=) | |
| 6 | g.12295983C>G | CA362857267 | EDN1 | c.555C>G (p.Ser185Arg) c.552C>G (p.Ser184Arg) | |
| 6 | g.12295983C>T | CA134218069 | EDN1 | c.555C>T (p.Ser185=) c.552C>T (p.Ser184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295984G>A | CA3638763 | EDN1 | c.556G>A (p.Val186Ile) c.553G>A (p.Val185Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295984G>C | CA362857268 | EDN1 | c.556G>C (p.Val186Leu) c.553G>C (p.Val185Leu) | gnomAD v4 |
| 6 | g.12295984G= | CA1610830882 | EDN1 | c.556G= (p.Val186=) c.553G= (p.Val185=) | |
| 6 | g.12295984G>T | CA362857269 | EDN1 | c.556G>T (p.Val186Phe) c.553G>T (p.Val185Phe) | |
| 6 | g.12295985T>A | CA362857270 | EDN1 | c.557T>A (p.Val186Asp) c.554T>A (p.Val185Asp) | COSMIC |
| 6 | g.12295985T>C | CA362857272 | EDN1 | c.557T>C (p.Val186Ala) c.554T>C (p.Val185Ala) | |
| 6 | g.12295985T>G | CA362857271 | EDN1 | c.557T>G (p.Val186Gly) c.554T>G (p.Val185Gly) | |
| 6 | g.12295986C>A | CA448427942 | EDN1 | c.558C>A (p.Val186=) c.555C>A (p.Val185=) | gnomAD v4 |
| 6 | g.12295986C= | CA1610830885 | EDN1 | c.558C= (p.Val186=) c.555C= (p.Val185=) | |
| 6 | g.12295986C>G | CA448427944 | EDN1 | c.558C>G (p.Val186=) c.555C>G (p.Val185=) | dbSNP |
| 6 | g.12295986C>T | CA448427943 | EDN1 | c.558C>T (p.Val186=) c.555C>T (p.Val185=) | |
| 6 | g.12295987A>C | CA362857273 | EDN1 | c.559A>C (p.Lys187Gln) c.556A>C (p.Lys186Gln) | |
| 6 | g.12295987A>G | CA362857274 | EDN1 | c.559A>G (p.Lys187Glu) c.556A>G (p.Lys186Glu) | |
| 6 | g.12295987A>T | CA362857275 | EDN1 | c.559A>T (p.Lys187Ter) c.556A>T (p.Lys186Ter) | |
| 6 | g.12295988A>C | CA362857276 | EDN1 | c.560A>C (p.Lys187Thr) c.557A>C (p.Lys186Thr) | |
| 6 | g.12295988A>G | CA362857277 | EDN1 | c.560A>G (p.Lys187Arg) c.557A>G (p.Lys186Arg) | COSMIC |
| 6 | g.12295988A>T | CA362857278 | EDN1 | c.560A>T (p.Lys187Ile) c.557A>T (p.Lys186Ile) | |
| 6 | g.12295989A>C | CA362857279 | EDN1 | c.561A>C (p.Lys187Asn) c.558A>C (p.Lys186Asn) | |
| 6 | g.12295989A>G | CA448427945 | EDN1 | c.561A>G (p.Lys187=) c.558A>G (p.Lys186=) | |
| 6 | g.12295989A>T | CA362857280 | EDN1 | c.561A>T (p.Lys187Asn) c.558A>T (p.Lys186Asn) |