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.7455868del | CA497744995 | CHRNB1 | c.1292del (p.Pro431ArgfsTer26) c.1076del (p.Pro359ArgfsTer26) c.-101del (n.-101del) c.929del (p.Pro310ArgfsTer26) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7455868C>A | CA397802559 | CHRNB1 | c.1292C>A (p.Pro431Gln) c.1076C>A (p.Pro359Gln) c.-101C>A (n.-101C>A) c.929C>A (p.Pro310Gln) | |
| 17 | g.7455868C= | CA2245822577 | CHRNB1 | c.1292C= (p.Pro431=) c.1076C= (p.Pro359=) c.-101C= (n.-101C=) c.929C= (p.Pro310=) | |
| 17 | g.7455868C>G | CA397802561 | CHRNB1 | c.1292C>G (p.Pro431Arg) c.1076C>G (p.Pro359Arg) c.-101C>G (n.-101C>G) c.929C>G (p.Pro310Arg) | dbSNP |
| 17 | g.7455868C>T | CA397802564 | CHRNB1 | c.1292C>T (p.Pro431Leu) c.1076C>T (p.Pro359Leu) c.-101C>T (n.-101C>T) c.929C>T (p.Pro310Leu) | |
| 17 | g.7455869G>A | CA497744996 | CHRNB1 | c.1293G>A (p.Pro431=) c.1077G>A (p.Pro359=) c.-100G>A (n.-100G>A) c.930G>A (p.Pro310=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7455869G>C | CA497744998 | CHRNB1 | c.1293G>C (p.Pro431=) c.1077G>C (p.Pro359=) c.-100G>C (n.-100G>C) c.930G>C (p.Pro310=) | |
| 17 | g.7455869G= | CA2245822578 | CHRNB1 | c.1293G= (p.Pro431=) c.1077G= (p.Pro359=) c.-100G= (n.-100G=) c.930G= (p.Pro310=) | |
| 17 | g.7455869G>T | CA497744997 | CHRNB1 | c.1293G>T (p.Pro431=) c.1077G>T (p.Pro359=) c.-100G>T (n.-100G>T) c.930G>T (p.Pro310=) | |
| 17 | g.7455870G>A | CA397802566 | CHRNB1 | c.1294G>A (p.Glu432Lys) c.1078G>A (p.Glu360Lys) c.-99G>A (n.-99G>A) c.931G>A (p.Glu311Lys) | |
| 17 | g.7455870G>C | CA397802569 | CHRNB1 | c.1294G>C (p.Glu432Gln) c.1078G>C (p.Glu360Gln) c.-99G>C (n.-99G>C) c.931G>C (p.Glu311Gln) | |
| 17 | g.7455870G>T | CA397802572 | CHRNB1 | c.1294G>T (p.Glu432Ter) c.1078G>T (p.Glu360Ter) c.-99G>T (n.-99G>T) c.931G>T (p.Glu311Ter) | |
| 17 | g.7455871A>C | CA397802574 | CHRNB1 | c.1295A>C (p.Glu432Ala) c.1079A>C (p.Glu360Ala) c.-98A>C (n.-98A>C) c.932A>C (p.Glu311Ala) | |
| 17 | g.7455871A>G | CA397802578 | CHRNB1 | c.1295A>G (p.Glu432Gly) c.1079A>G (p.Glu360Gly) c.-98A>G (n.-98A>G) c.932A>G (p.Glu311Gly) | |
| 17 | g.7455871A>T | CA397802575 | CHRNB1 | c.1295A>T (p.Glu432Val) c.1079A>T (p.Glu360Val) c.-98A>T (n.-98A>T) c.932A>T (p.Glu311Val) | |
| 17 | g.7455872G>A | CA497744999 | CHRNB1 | c.1296G>A (p.Glu432=) c.1080G>A (p.Glu360=) c.-97G>A (n.-97G>A) c.933G>A (p.Glu311=) | |
| 17 | g.7455872G>C | CA397802580 | CHRNB1 | c.1296G>C (p.Glu432Asp) c.1080G>C (p.Glu360Asp) c.-97G>C (n.-97G>C) c.933G>C (p.Glu311Asp) | |
| 17 | g.7455872G>T | CA397802586 | CHRNB1 | c.1296G>T (p.Glu432Asp) c.1080G>T (p.Glu360Asp) c.-97G>T (n.-97G>T) c.933G>T (p.Glu311Asp) | |
| 17 | g.7455873C>A | CA397802590 | CHRNB1 | c.1297C>A (p.Leu433Ile) c.1081C>A (p.Leu361Ile) c.-96C>A (n.-96C>A) c.934C>A (p.Leu312Ile) | |
| 17 | g.7455873C= | CA2245822579 | CHRNB1 | c.1297C= (p.Leu433=) c.1081C= (p.Leu361=) c.-96C= (n.-96C=) c.934C= (p.Leu312=) | |
| 17 | g.7455873C>G | CA397802592 | CHRNB1 | c.1297C>G (p.Leu433Val) c.1081C>G (p.Leu361Val) c.-96C>G (n.-96C>G) c.934C>G (p.Leu312Val) | gnomAD v4 |
| 17 | g.7455873C>T | CA8348030 | CHRNB1 | c.1297C>T (p.Leu433=) c.1081C>T (p.Leu361=) c.-96C>T (n.-96C>T) c.934C>T (p.Leu312=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7455874T>A | CA397802597 | CHRNB1 | c.1298T>A (p.Leu433Gln) c.1082T>A (p.Leu361Gln) c.-95T>A (n.-95T>A) c.935T>A (p.Leu312Gln) | |
| 17 | g.7455874T>C | CA397802598 | CHRNB1 | c.1298T>C (p.Leu433Pro) c.1082T>C (p.Leu361Pro) c.-95T>C (n.-95T>C) c.935T>C (p.Leu312Pro) | |
| 17 | g.7455874T>G | CA397802600 | CHRNB1 | c.1298T>G (p.Leu433Arg) c.1082T>G (p.Leu361Arg) c.-95T>G (n.-95T>G) c.935T>G (p.Leu312Arg) | |
| 17 | g.7455875A>C | CA497745000 | CHRNB1 | c.1299A>C (p.Leu433=) c.1083A>C (p.Leu361=) c.-94A>C (n.-94A>C) c.936A>C (p.Leu312=) | |
| 17 | g.7455875A>G | CA497745001 | CHRNB1 | c.1299A>G (p.Leu433=) c.1083A>G (p.Leu361=) c.-94A>G (n.-94A>G) c.936A>G (p.Leu312=) | gnomAD v4 |
| 17 | g.7455875A>T | CA497745002 | CHRNB1 | c.1299A>T (p.Leu433=) c.1083A>T (p.Leu361=) c.-94A>T (n.-94A>T) c.936A>T (p.Leu312=) | |
| 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 |