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 |
|---|---|---|---|---|---|
| 17 | g.7455876C>A | CA497745003 | CHRNB1 | c.1300C>A (p.Arg434=) c.1084C>A (p.Arg362=) c.-93C>A (n.-93C>A) c.937C>A (p.Arg313=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7455876C= | CA2245822580 | CHRNB1 | c.1300C= (p.Arg434=) c.1084C= (p.Arg362=) c.-93C= (n.-93C=) c.937C= (p.Arg313=) | |
| 17 | g.7455876C>G | CA397802603 | CHRNB1 | c.1300C>G (p.Arg434Gly) c.1084C>G (p.Arg362Gly) c.-93C>G (n.-93C>G) c.937C>G (p.Arg313Gly) | |
| 17 | g.7455876C>T | CA397802606 | CHRNB1 | c.1300C>T (p.Arg434Trp) c.1084C>T (p.Arg362Trp) c.-93C>T (n.-93C>T) c.937C>T (p.Arg313Trp) | dbSNP |
| 17 | g.7455877G>A | CA8348031 | CHRNB1 | c.1301G>A (p.Arg434Gln) c.1085G>A (p.Arg362Gln) c.-92G>A (n.-92G>A) c.938G>A (p.Arg313Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7455877G>C | CA397802611 | CHRNB1 | c.1301G>C (p.Arg434Pro) c.1085G>C (p.Arg362Pro) c.-92G>C (n.-92G>C) c.938G>C (p.Arg313Pro) | gnomAD v4 |
| 17 | g.7455877G= | CA2245822581 | CHRNB1 | c.1301G= (p.Arg434=) c.1085G= (p.Arg362=) c.-92G= (n.-92G=) c.938G= (p.Arg313=) | |
| 17 | g.7455877G>T | CA397802608 | CHRNB1 | c.1301G>T (p.Arg434Leu) c.1085G>T (p.Arg362Leu) c.-92G>T (n.-92G>T) c.938G>T (p.Arg313Leu) | |
| 17 | g.7455878G>A | CA497745004 | CHRNB1 | c.1302G>A (p.Arg434=) c.1086G>A (p.Arg362=) c.-91G>A (n.-91G>A) c.939G>A (p.Arg313=) | |
| 17 | g.7455878G>C | CA497745005 | CHRNB1 | c.1302G>C (p.Arg434=) c.1086G>C (p.Arg362=) c.-91G>C (n.-91G>C) c.939G>C (p.Arg313=) | |
| 17 | g.7455878G>T | CA497745006 | CHRNB1 | c.1302G>T (p.Arg434=) c.1086G>T (p.Arg362=) c.-91G>T (n.-91G>T) c.939G>T (p.Arg313=) | |
| 17 | g.7455879G>A | CA397802616 | CHRNB1 | c.1303G>A (p.Glu435Lys) c.1087G>A (p.Glu363Lys) c.-90G>A (n.-90G>A) c.940G>A (p.Glu314Lys) | |
| 17 | g.7455879G>C | CA397802614 | CHRNB1 | c.1303G>C (p.Glu435Gln) c.1087G>C (p.Glu363Gln) c.-90G>C (n.-90G>C) c.940G>C (p.Glu314Gln) | |
| 17 | g.7455879G>T | CA397802615 | CHRNB1 | c.1303G>T (p.Glu435Ter) c.1087G>T (p.Glu363Ter) c.-90G>T (n.-90G>T) c.940G>T (p.Glu314Ter) | gnomAD v4 |
| 17 | g.7455880A= | CA2245822582 | CHRNB1 | c.1304A= (p.Glu435=) c.1088A= (p.Glu363=) c.-89A= (n.-89A=) c.941A= (p.Glu314=) | |
| 17 | g.7455880A>C | CA397802618 | CHRNB1 | c.1304A>C (p.Glu435Ala) c.1088A>C (p.Glu363Ala) c.-89A>C (n.-89A>C) c.941A>C (p.Glu314Ala) | |
| 17 | g.7455880A>G | CA8348032 | CHRNB1 | c.1304A>G (p.Glu435Gly) c.1088A>G (p.Glu363Gly) c.-89A>G (n.-89A>G) c.941A>G (p.Glu314Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7455880A>T | CA397802620 | CHRNB1 | c.1304A>T (p.Glu435Val) c.1088A>T (p.Glu363Val) c.-89A>T (n.-89A>T) c.941A>T (p.Glu314Val) | |
| 17 | g.7455881G>A | CA497745007 | CHRNB1 | c.1305G>A (p.Glu435=) c.1089G>A (p.Glu363=) c.-88G>A (n.-88G>A) c.942G>A (p.Glu314=) | |
| 17 | g.7455881G>C | CA397802622 | CHRNB1 | c.1305G>C (p.Glu435Asp) c.1089G>C (p.Glu363Asp) c.-88G>C (n.-88G>C) c.942G>C (p.Glu314Asp) | COSMIC |
| 17 | g.7455881G>T | CA397802624 | CHRNB1 | c.1305G>T (p.Glu435Asp) c.1089G>T (p.Glu363Asp) c.-88G>T (n.-88G>T) c.942G>T (p.Glu314Asp) | |
| 17 | g.7455882G>A | CA397802625 | CHRNB1 | c.1306G>A (p.Val436Ile) c.1090G>A (p.Val364Ile) c.-87G>A (n.-87G>A) c.943G>A (p.Val315Ile) | COSMIC |
| 17 | g.7455882G>C | CA397802627 | CHRNB1 | c.1306G>C (p.Val436Leu) c.1090G>C (p.Val364Leu) c.-87G>C (n.-87G>C) c.943G>C (p.Val315Leu) | |
| 17 | g.7455882G= | CA2245822583 | CHRNB1 | c.1306G= (p.Val436=) c.1090G= (p.Val364=) c.-87G= (n.-87G=) c.943G= (p.Val315=) | |
| 17 | g.7455882G>T | CA287432543 | CHRNB1 | c.1306G>T (p.Val436Phe) c.1090G>T (p.Val364Phe) c.-87G>T (n.-87G>T) c.943G>T (p.Val315Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7455883T>A | CA397802629 | CHRNB1 | c.1307T>A (p.Val436Asp) c.1091T>A (p.Val364Asp) c.-86T>A (n.-86T>A) c.944T>A (p.Val315Asp) | ClinVar dbSNP |
| 17 | g.7455883T>C | CA397802631 | CHRNB1 | c.1307T>C (p.Val436Ala) c.1091T>C (p.Val364Ala) c.-86T>C (n.-86T>C) c.944T>C (p.Val315Ala) | |
| 17 | g.7455883T>G | CA397802632 | CHRNB1 | c.1307T>G (p.Val436Gly) c.1091T>G (p.Val364Gly) c.-86T>G (n.-86T>G) c.944T>G (p.Val315Gly) | dbSNP |
| 17 | g.7455883T= | CA2245822584 | CHRNB1 | c.1307T= (p.Val436=) c.1091T= (p.Val364=) c.-86T= (n.-86T=) c.944T= (p.Val315=) | |
| 17 | g.7455884C>A | CA497745008 | CHRNB1 | c.1308C>A (p.Val436=) c.1092C>A (p.Val364=) c.-85C>A (n.-85C>A) c.945C>A (p.Val315=) | |
| 17 | g.7455884C= | CA2245822585 | CHRNB1 | c.1308C= (p.Val436=) c.1092C= (p.Val364=) c.-85C= (n.-85C=) c.945C= (p.Val315=) | |
| 17 | g.7455884C>G | CA497745009 | CHRNB1 | c.1308C>G (p.Val436=) c.1092C>G (p.Val364=) c.-85C>G (n.-85C>G) c.945C>G (p.Val315=) | |
| 17 | g.7455884C>T | CA497745010 | CHRNB1 | c.1308C>T (p.Val436=) c.1092C>T (p.Val364=) c.-85C>T (n.-85C>T) c.945C>T (p.Val315=) | dbSNP gnomAD v4 |
| 17 | g.7455885G>A | CA397802633 | CHRNB1 | c.1309G>A (p.Val437Ile) c.1093G>A (p.Val365Ile) c.-84G>A (n.-84G>A) c.946G>A (p.Val316Ile) | |
| 17 | g.7455885G>C | CA397802637 | CHRNB1 | c.1309G>C (p.Val437Leu) c.1093G>C (p.Val365Leu) c.-84G>C (n.-84G>C) c.946G>C (p.Val316Leu) | |
| 17 | g.7455885G>T | CA397802635 | CHRNB1 | c.1309G>T (p.Val437Phe) c.1093G>T (p.Val365Phe) c.-84G>T (n.-84G>T) c.946G>T (p.Val316Phe) | |
| 17 | g.7455886T>A | CA397802639 | CHRNB1 | c.1310T>A (p.Val437Asp) c.1094T>A (p.Val365Asp) c.-83T>A (n.-83T>A) c.947T>A (p.Val316Asp) | |
| 17 | g.7455886T>C | CA397802640 | CHRNB1 | c.1310T>C (p.Val437Ala) c.1094T>C (p.Val365Ala) c.-83T>C (n.-83T>C) c.947T>C (p.Val316Ala) | dbSNP gnomAD v4 |
| 17 | g.7455886T>G | CA397802641 | CHRNB1 | c.1310T>G (p.Val437Gly) c.1094T>G (p.Val365Gly) c.-83T>G (n.-83T>G) c.947T>G (p.Val316Gly) | |
| 17 | g.7455886T= | CA2245822586 | CHRNB1 | c.1310T= (p.Val437=) c.1094T= (p.Val365=) c.-83T= (n.-83T=) c.947T= (p.Val316=) | |
| 17 | g.7455887C>A | CA497745011 | CHRNB1 | c.1311C>A (p.Val437=) c.1095C>A (p.Val365=) c.-82C>A (n.-82C>A) c.948C>A (p.Val316=) | |
| 17 | g.7455887C>G | CA497745012 | CHRNB1 | c.1311C>G (p.Val437=) c.1095C>G (p.Val365=) c.-82C>G (n.-82C>G) c.948C>G (p.Val316=) | |
| 17 | g.7455887C>T | CA497745013 | CHRNB1 | c.1311C>T (p.Val437=) c.1095C>T (p.Val365=) c.-82C>T (n.-82C>T) c.948C>T (p.Val316=) | |
| 17 | g.7455888T>A | CA397802643 | CHRNB1 | c.1312T>A (p.Ser438Thr) c.1096T>A (p.Ser366Thr) c.-81T>A (n.-81T>A) c.949T>A (p.Ser317Thr) | |
| 17 | g.7455888T>C | CA397802645 | CHRNB1 | c.1312T>C (p.Ser438Pro) c.1096T>C (p.Ser366Pro) c.-81T>C (n.-81T>C) c.949T>C (p.Ser317Pro) | gnomAD v4 |
| 17 | g.7455888T>G | CA397802647 | CHRNB1 | c.1312T>G (p.Ser438Ala) c.1096T>G (p.Ser366Ala) c.-81T>G (n.-81T>G) c.949T>G (p.Ser317Ala) | |
| 17 | g.7455889C>A | CA397802648 | CHRNB1 | c.1313C>A (p.Ser438Tyr) c.1097C>A (p.Ser366Tyr) c.-80C>A (n.-80C>A) c.950C>A (p.Ser317Tyr) | gnomAD v4 |
| 17 | g.7455889C= | CA2245822587 | CHRNB1 | c.1313C= (p.Ser438=) c.1097C= (p.Ser366=) c.-80C= (n.-80C=) c.950C= (p.Ser317=) | |
| 17 | g.7455889C>G | CA397802650 | CHRNB1 | c.1313C>G (p.Ser438Cys) c.1097C>G (p.Ser366Cys) c.-80C>G (n.-80C>G) c.950C>G (p.Ser317Cys) | |
| 17 | g.7455889C>T | CA8348033 | CHRNB1 | c.1313C>T (p.Ser438Phe) c.1097C>T (p.Ser366Phe) c.-80C>T (n.-80C>T) c.950C>T (p.Ser317Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |