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 |
|---|---|---|---|---|---|
| 3 | g.38556561C>A | CA352145492 | SCN5A | c.4314G>T (p.Gln1438His) c.4317G>T (p.Gln1439His) c.4263G>T (p.Gln1421His) c.4155G>T (p.Gln1385His) c.4188G>T (p.Gln1396His) c.4260G>T (p.Gln1420His) | |
| 3 | g.38556561C= | CA1358563568 | SCN5A | c.4314G= (p.Gln1438=) c.4317G= (p.Gln1439=) c.4263G= (p.Gln1421=) c.4155G= (p.Gln1385=) c.4188G= (p.Gln1396=) c.4260G= (p.Gln1420=) | |
| 3 | g.38556561C>G | CA063115 | SCN5A | c.4314G>C (p.Gln1438His) c.4317G>C (p.Gln1439His) c.4263G>C (p.Gln1421His) c.4155G>C (p.Gln1385His) c.4188G>C (p.Gln1396His) c.4260G>C (p.Gln1420His) | dbSNP ExAC gnomAD v2 |
| 3 | g.38556561C>T | CA063111 | SCN5A | c.4314G>A (p.Gln1438=) c.4317G>A (p.Gln1439=) c.4263G>A (p.Gln1421=) c.4155G>A (p.Gln1385=) c.4188G>A (p.Gln1396=) c.4260G>A (p.Gln1420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556562T>A | CA352145493 | SCN5A | c.4313A>T (p.Gln1438Leu) c.4316A>T (p.Gln1439Leu) c.4262A>T (p.Gln1421Leu) c.4154A>T (p.Gln1385Leu) c.4187A>T (p.Gln1396Leu) c.4259A>T (p.Gln1420Leu) | |
| 3 | g.38556562T>C | CA352145494 | SCN5A | c.4313A>G (p.Gln1438Arg) c.4316A>G (p.Gln1439Arg) c.4262A>G (p.Gln1421Arg) c.4154A>G (p.Gln1385Arg) c.4187A>G (p.Gln1396Arg) c.4259A>G (p.Gln1420Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556562T>G | CA352145495 | SCN5A | c.4313A>C (p.Gln1438Pro) c.4316A>C (p.Gln1439Pro) c.4262A>C (p.Gln1421Pro) c.4154A>C (p.Gln1385Pro) c.4187A>C (p.Gln1396Pro) c.4259A>C (p.Gln1420Pro) | |
| 3 | g.38556562T= | CA1358563572 | SCN5A | c.4313A= (p.Gln1438=) c.4316A= (p.Gln1439=) c.4262A= (p.Gln1421=) c.4154A= (p.Gln1385=) c.4187A= (p.Gln1396=) c.4259A= (p.Gln1420=) | |
| 3 | g.38556562dup | CA2499216732 | SCN5A | c.4313dup (p.Trp1439ValfsTer?) c.4316dup (p.Trp1440ValfsTer?) c.4262dup (p.Trp1422ValfsTer?) c.4154dup (p.Trp1386ValfsTer?) c.4187dup (p.Trp1397ValfsTer?) c.4259dup (p.Trp1421ValfsTer?) | ClinVar dbSNP |
| 3 | g.38556563G>A | CA352145496 | SCN5A | c.4312C>T (p.Gln1438Ter) c.4315C>T (p.Gln1439Ter) c.4261C>T (p.Gln1421Ter) c.4153C>T (p.Gln1385Ter) c.4186C>T (p.Gln1396Ter) c.4258C>T (p.Gln1420Ter) | dbSNP |
| 3 | g.38556563G>C | CA352145497 | SCN5A | c.4312C>G (p.Gln1438Glu) c.4315C>G (p.Gln1439Glu) c.4261C>G (p.Gln1421Glu) c.4153C>G (p.Gln1385Glu) c.4186C>G (p.Gln1396Glu) c.4258C>G (p.Gln1420Glu) | |
| 3 | g.38556563G= | CA1358563577 | SCN5A | c.4312C= (p.Gln1438=) c.4315C= (p.Gln1439=) c.4261C= (p.Gln1421=) c.4153C= (p.Gln1385=) c.4186C= (p.Gln1396=) c.4258C= (p.Gln1420=) | |
| 3 | g.38556563G>T | CA352145498 | SCN5A | c.4312C>A (p.Gln1438Lys) c.4315C>A (p.Gln1439Lys) c.4261C>A (p.Gln1421Lys) c.4153C>A (p.Gln1385Lys) c.4186C>A (p.Gln1396Lys) c.4258C>A (p.Gln1420Lys) | |
| 3 | g.38556564A>C | CA433136164 | SCN5A | c.4311T>G (p.Pro1437=) c.4314T>G (p.Pro1438=) c.4260T>G (p.Pro1420=) c.4152T>G (p.Pro1384=) c.4185T>G (p.Pro1395=) c.4257T>G (p.Pro1419=) | |
| 3 | g.38556564A>G | CA433136165 | SCN5A | c.4311T>C (p.Pro1437=) c.4314T>C (p.Pro1438=) c.4260T>C (p.Pro1420=) c.4152T>C (p.Pro1384=) c.4185T>C (p.Pro1395=) c.4257T>C (p.Pro1419=) | |
| 3 | g.38556564A>T | CA433136166 | SCN5A | c.4311T>A (p.Pro1437=) c.4314T>A (p.Pro1438=) c.4260T>A (p.Pro1420=) c.4152T>A (p.Pro1384=) c.4185T>A (p.Pro1395=) c.4257T>A (p.Pro1419=) | |
| 3 | g.38556564_38556565delinsAG | CA1358563580 | SCN5A | c.4310_4311delinsCT (p.Pro1437=) c.4313_4314delinsCT (p.Pro1438=) c.4259_4260delinsCT (p.Pro1420=) c.4151_4152delinsCT (p.Pro1384=) c.4184_4185delinsCT (p.Pro1395=) c.4256_4257delinsCT (p.Pro1419=) | |
| 3 | g.38556565G>A | CA018135 | SCN5A | c.4310C>T (p.Pro1437Leu) c.4313C>T (p.Pro1438Leu) c.4259C>T (p.Pro1420Leu) c.4151C>T (p.Pro1384Leu) c.4184C>T (p.Pro1395Leu) c.4256C>T (p.Pro1419Leu) | ClinVar dbSNP |
| 3 | g.38556565G>C | CA352145499 | SCN5A | c.4310C>G (p.Pro1437Arg) c.4313C>G (p.Pro1438Arg) c.4259C>G (p.Pro1420Arg) c.4151C>G (p.Pro1384Arg) c.4184C>G (p.Pro1395Arg) c.4256C>G (p.Pro1419Arg) | |
| 3 | g.38556565G= | CA1358563586 | SCN5A | c.4310C= (p.Pro1437=) c.4313C= (p.Pro1438=) c.4259C= (p.Pro1420=) c.4151C= (p.Pro1384=) c.4184C= (p.Pro1395=) c.4256C= (p.Pro1419=) | |
| 3 | g.38556565G>T | CA352145500 | SCN5A | c.4310C>A (p.Pro1437His) c.4313C>A (p.Pro1438His) c.4259C>A (p.Pro1420His) c.4151C>A (p.Pro1384His) c.4184C>A (p.Pro1395His) c.4256C>A (p.Pro1419His) | |
| 3 | g.38556566del | CA72943359 | SCN5A | c.4310del (p.Pro1437LeufsTer25) c.4313del (p.Pro1438LeufsTer25) c.4259del (p.Pro1420LeufsTer25) c.4151del (p.Pro1384LeufsTer25) c.4184del (p.Pro1395LeufsTer25) c.4256del (p.Pro1419LeufsTer25) | dbSNP |
| 3 | g.38556566G>A | CA352145501 | SCN5A | c.4309C>T (p.Pro1437Ser) c.4312C>T (p.Pro1438Ser) c.4258C>T (p.Pro1420Ser) c.4150C>T (p.Pro1384Ser) c.4183C>T (p.Pro1395Ser) c.4255C>T (p.Pro1419Ser) | ClinVar dbSNP |
| 3 | g.38556566G>C | CA352145502 | SCN5A | c.4309C>G (p.Pro1437Ala) c.4312C>G (p.Pro1438Ala) c.4258C>G (p.Pro1420Ala) c.4150C>G (p.Pro1384Ala) c.4183C>G (p.Pro1395Ala) c.4255C>G (p.Pro1419Ala) | |
| 3 | g.38556566G= | CA1358563590 | SCN5A | c.4309C= (p.Pro1437=) c.4312C= (p.Pro1438=) c.4258C= (p.Pro1420=) c.4150C= (p.Pro1384=) c.4183C= (p.Pro1395=) c.4255C= (p.Pro1419=) | |
| 3 | g.38556566G>T | CA352145503 | SCN5A | c.4309C>A (p.Pro1437Thr) c.4312C>A (p.Pro1438Thr) c.4258C>A (p.Pro1420Thr) c.4150C>A (p.Pro1384Thr) c.4183C>A (p.Pro1395Thr) c.4255C>A (p.Pro1419Thr) | |
| 3 | g.38556567C>A | CA352145505 | SCN5A | c.4308G>T (p.Gln1436His) c.4311G>T (p.Gln1437His) c.4257G>T (p.Gln1419His) c.4149G>T (p.Gln1383His) c.4182G>T (p.Gln1394His) c.4254G>T (p.Gln1418His) | |
| 3 | g.38556567C= | CA1358563594 | SCN5A | c.4308G= (p.Gln1436=) c.4311G= (p.Gln1437=) c.4257G= (p.Gln1419=) c.4149G= (p.Gln1383=) c.4182G= (p.Gln1394=) c.4254G= (p.Gln1418=) | |
| 3 | g.38556567C>G | CA352145504 | SCN5A | c.4308G>C (p.Gln1436His) c.4311G>C (p.Gln1437His) c.4257G>C (p.Gln1419His) c.4149G>C (p.Gln1383His) c.4182G>C (p.Gln1394His) c.4254G>C (p.Gln1418His) | |
| 3 | g.38556567C>T | CA433136169 | SCN5A | c.4308G>A (p.Gln1436=) c.4311G>A (p.Gln1437=) c.4257G>A (p.Gln1419=) c.4149G>A (p.Gln1383=) c.4182G>A (p.Gln1394=) c.4254G>A (p.Gln1418=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556568T>A | CA352145506 | SCN5A | c.4307A>T (p.Gln1436Leu) c.4310A>T (p.Gln1437Leu) c.4256A>T (p.Gln1419Leu) c.4148A>T (p.Gln1383Leu) c.4181A>T (p.Gln1394Leu) c.4253A>T (p.Gln1418Leu) | |
| 3 | g.38556568T>C | CA352145508 | SCN5A | c.4307A>G (p.Gln1436Arg) c.4310A>G (p.Gln1437Arg) c.4256A>G (p.Gln1419Arg) c.4148A>G (p.Gln1383Arg) c.4181A>G (p.Gln1394Arg) c.4253A>G (p.Gln1418Arg) | |
| 3 | g.38556568T>G | CA352145507 | SCN5A | c.4307A>C (p.Gln1436Pro) c.4310A>C (p.Gln1437Pro) c.4256A>C (p.Gln1419Pro) c.4148A>C (p.Gln1383Pro) c.4181A>C (p.Gln1394Pro) c.4253A>C (p.Gln1418Pro) | |
| 3 | g.38556569G>A | CA352145509 | SCN5A | c.4306C>T (p.Gln1436Ter) c.4309C>T (p.Gln1437Ter) c.4255C>T (p.Gln1419Ter) c.4147C>T (p.Gln1383Ter) c.4180C>T (p.Gln1394Ter) c.4252C>T (p.Gln1418Ter) | |
| 3 | g.38556569G>C | CA352145510 | SCN5A | c.4306C>G (p.Gln1436Glu) c.4309C>G (p.Gln1437Glu) c.4255C>G (p.Gln1419Glu) c.4147C>G (p.Gln1383Glu) c.4180C>G (p.Gln1394Glu) c.4252C>G (p.Gln1418Glu) | ClinVar dbSNP |
| 3 | g.38556569G= | CA1358563600 | SCN5A | c.4306C= (p.Gln1436=) c.4309C= (p.Gln1437=) c.4255C= (p.Gln1419=) c.4147C= (p.Gln1383=) c.4180C= (p.Gln1394=) c.4252C= (p.Gln1418=) | |
| 3 | g.38556569G>T | CA352145511 | SCN5A | c.4306C>A (p.Gln1436Lys) c.4309C>A (p.Gln1437Lys) c.4255C>A (p.Gln1419Lys) c.4147C>A (p.Gln1383Lys) c.4180C>A (p.Gln1394Lys) c.4252C>A (p.Gln1418Lys) | |
| 3 | g.38556570C>A | CA352145512 | SCN5A | c.4305G>T (p.Glu1435Asp) c.4308G>T (p.Glu1436Asp) c.4254G>T (p.Glu1418Asp) c.4146G>T (p.Glu1382Asp) c.4179G>T (p.Glu1393Asp) c.4251G>T (p.Glu1417Asp) | |
| 3 | g.38556570C= | CA1358563608 | SCN5A | c.4305G= (p.Glu1435=) c.4308G= (p.Glu1436=) c.4254G= (p.Glu1418=) c.4146G= (p.Glu1382=) c.4179G= (p.Glu1393=) c.4251G= (p.Glu1417=) | |
| 3 | g.38556570C>G | CA352145513 | SCN5A | c.4305G>C (p.Glu1435Asp) c.4308G>C (p.Glu1436Asp) c.4254G>C (p.Glu1418Asp) c.4146G>C (p.Glu1382Asp) c.4179G>C (p.Glu1393Asp) c.4251G>C (p.Glu1417Asp) | |
| 3 | g.38556570C>T | CA063106 | SCN5A | c.4305G>A (p.Glu1435=) c.4308G>A (p.Glu1436=) c.4254G>A (p.Glu1418=) c.4146G>A (p.Glu1382=) c.4179G>A (p.Glu1393=) c.4251G>A (p.Glu1417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556571T>A | CA352145514 | SCN5A | c.4304A>T (p.Glu1435Val) c.4307A>T (p.Glu1436Val) c.4253A>T (p.Glu1418Val) c.4145A>T (p.Glu1382Val) c.4178A>T (p.Glu1393Val) c.4250A>T (p.Glu1417Val) | |
| 3 | g.38556571T>C | CA352145515 | SCN5A | c.4304A>G (p.Glu1435Gly) c.4307A>G (p.Glu1436Gly) c.4253A>G (p.Glu1418Gly) c.4145A>G (p.Glu1382Gly) c.4178A>G (p.Glu1393Gly) c.4250A>G (p.Glu1417Gly) | |
| 3 | g.38556571T>G | CA352145516 | SCN5A | c.4304A>C (p.Glu1435Ala) c.4307A>C (p.Glu1436Ala) c.4253A>C (p.Glu1418Ala) c.4145A>C (p.Glu1382Ala) c.4178A>C (p.Glu1393Ala) c.4250A>C (p.Glu1417Ala) | |
| 3 | g.38556572C>A | CA352145517 | SCN5A | c.4303G>T (p.Glu1435Ter) c.4306G>T (p.Glu1436Ter) c.4252G>T (p.Glu1418Ter) c.4144G>T (p.Glu1382Ter) c.4177G>T (p.Glu1393Ter) c.4249G>T (p.Glu1417Ter) | dbSNP |
| 3 | g.38556572C= | CA1358563614 | SCN5A | c.4303G= (p.Glu1435=) c.4306G= (p.Glu1436=) c.4252G= (p.Glu1418=) c.4144G= (p.Glu1382=) c.4177G= (p.Glu1393=) c.4249G= (p.Glu1417=) | |
| 3 | g.38556572C>G | CA352145518 | SCN5A | c.4303G>C (p.Glu1435Gln) c.4306G>C (p.Glu1436Gln) c.4252G>C (p.Glu1418Gln) c.4144G>C (p.Glu1382Gln) c.4177G>C (p.Glu1393Gln) c.4249G>C (p.Glu1417Gln) | |
| 3 | g.38556572C>T | CA352145519 | SCN5A | c.4303G>A (p.Glu1435Lys) c.4306G>A (p.Glu1436Lys) c.4252G>A (p.Glu1418Lys) c.4144G>A (p.Glu1382Lys) c.4177G>A (p.Glu1393Lys) c.4249G>A (p.Glu1417Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556573T>A | CA352145521 | SCN5A | c.4302A>T (p.Glu1434Asp) c.4305A>T (p.Glu1435Asp) c.4251A>T (p.Glu1417Asp) c.4143A>T (p.Glu1381Asp) c.4176A>T (p.Glu1392Asp) c.4248A>T (p.Glu1416Asp) | |
| 3 | g.38556573T>C | CA433136172 | SCN5A | c.4302A>G (p.Glu1434=) c.4305A>G (p.Glu1435=) c.4251A>G (p.Glu1417=) c.4143A>G (p.Glu1381=) c.4176A>G (p.Glu1392=) c.4248A>G (p.Glu1416=) |