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.38556464_38556466del | CA2586965720 | SCN5A | c.4411_4413del (p.Asn1471del) c.4414_4416del (p.Asn1472del) c.4360_4362del (p.Asn1454del) c.4252_4254del (p.Asn1418del) c.4285_4287del (p.Asn1429del) c.4357_4359del (p.Asn1453del) | |
| 3 | g.38556466T>A | CA352145266 | SCN5A | c.4409A>T (p.Asp1470Val) c.4412A>T (p.Asp1471Val) c.4358A>T (p.Asp1453Val) c.4250A>T (p.Asp1417Val) c.4283A>T (p.Asp1428Val) c.4355A>T (p.Asp1452Val) | |
| 3 | g.38556466T>C | CA72943317 | SCN5A | c.4409A>G (p.Asp1470Gly) c.4412A>G (p.Asp1471Gly) c.4358A>G (p.Asp1453Gly) c.4250A>G (p.Asp1417Gly) c.4283A>G (p.Asp1428Gly) c.4355A>G (p.Asp1452Gly) | dbSNP |
| 3 | g.38556466T>G | CA352145265 | SCN5A | c.4409A>C (p.Asp1470Ala) c.4412A>C (p.Asp1471Ala) c.4358A>C (p.Asp1453Ala) c.4250A>C (p.Asp1417Ala) c.4283A>C (p.Asp1428Ala) c.4355A>C (p.Asp1452Ala) | |
| 3 | g.38556466T= | CA1358563432 | SCN5A | c.4409A= (p.Asp1470=) c.4412A= (p.Asp1471=) c.4358A= (p.Asp1453=) c.4250A= (p.Asp1417=) c.4283A= (p.Asp1428=) c.4355A= (p.Asp1452=) | |
| 3 | g.38556467C>A | CA352145267 | SCN5A | c.4408G>T (p.Asp1470Tyr) c.4411G>T (p.Asp1471Tyr) c.4357G>T (p.Asp1453Tyr) c.4249G>T (p.Asp1417Tyr) c.4282G>T (p.Asp1428Tyr) c.4354G>T (p.Asp1452Tyr) | gnomAD v4 |
| 3 | g.38556467C>G | CA352145268 | SCN5A | c.4408G>C (p.Asp1470His) c.4411G>C (p.Asp1471His) c.4357G>C (p.Asp1453His) c.4249G>C (p.Asp1417His) c.4282G>C (p.Asp1428His) c.4354G>C (p.Asp1452His) | |
| 3 | g.38556467C>T | CA352145269 | SCN5A | c.4408G>A (p.Asp1470Asn) c.4411G>A (p.Asp1471Asn) c.4357G>A (p.Asp1453Asn) c.4249G>A (p.Asp1417Asn) c.4282G>A (p.Asp1428Asn) c.4354G>A (p.Asp1452Asn) | |
| 3 | g.38556468A= | CA1358563435 | SCN5A | c.4407T= (p.Ile1469=) c.4410T= (p.Ile1470=) c.4356T= (p.Ile1452=) c.4248T= (p.Ile1416=) c.4281T= (p.Ile1427=) c.4353T= (p.Ile1451=) | |
| 3 | g.38556468A>C | CA352145270 | SCN5A | c.4407T>G (p.Ile1469Met) c.4410T>G (p.Ile1470Met) c.4356T>G (p.Ile1452Met) c.4248T>G (p.Ile1416Met) c.4281T>G (p.Ile1427Met) c.4353T>G (p.Ile1451Met) | |
| 3 | g.38556468A>G | CA433136020 | SCN5A | c.4407T>C (p.Ile1469=) c.4410T>C (p.Ile1470=) c.4356T>C (p.Ile1452=) c.4248T>C (p.Ile1416=) c.4281T>C (p.Ile1427=) c.4353T>C (p.Ile1451=) | |
| 3 | g.38556468A>T | CA063166 | SCN5A | c.4407T>A (p.Ile1469=) c.4410T>A (p.Ile1470=) c.4356T>A (p.Ile1452=) c.4248T>A (p.Ile1416=) c.4281T>A (p.Ile1427=) c.4353T>A (p.Ile1451=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556469A= | CA1358563436 | SCN5A | c.4406T= (p.Ile1469=) c.4409T= (p.Ile1470=) c.4355T= (p.Ile1452=) c.4247T= (p.Ile1416=) c.4280T= (p.Ile1427=) c.4352T= (p.Ile1451=) | |
| 3 | g.38556469A>C | CA352145271 | SCN5A | c.4406T>G (p.Ile1469Ser) c.4409T>G (p.Ile1470Ser) c.4355T>G (p.Ile1452Ser) c.4247T>G (p.Ile1416Ser) c.4280T>G (p.Ile1427Ser) c.4352T>G (p.Ile1451Ser) | |
| 3 | g.38556469A>G | CA018232 | SCN5A | c.4406T>C (p.Ile1469Thr) c.4409T>C (p.Ile1470Thr) c.4355T>C (p.Ile1452Thr) c.4247T>C (p.Ile1416Thr) c.4280T>C (p.Ile1427Thr) c.4352T>C (p.Ile1451Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556469A>T | CA352145272 | SCN5A | c.4406T>A (p.Ile1469Asn) c.4409T>A (p.Ile1470Asn) c.4355T>A (p.Ile1452Asn) c.4247T>A (p.Ile1416Asn) c.4280T>A (p.Ile1427Asn) c.4352T>A (p.Ile1451Asn) | |
| 3 | g.38556470T>A | CA352145273 | SCN5A | c.4405A>T (p.Ile1469Phe) c.4408A>T (p.Ile1470Phe) c.4354A>T (p.Ile1452Phe) c.4246A>T (p.Ile1416Phe) c.4279A>T (p.Ile1427Phe) c.4351A>T (p.Ile1451Phe) | |
| 3 | g.38556470T>C | CA352145274 | SCN5A | c.4405A>G (p.Ile1469Val) c.4408A>G (p.Ile1470Val) c.4354A>G (p.Ile1452Val) c.4246A>G (p.Ile1416Val) c.4279A>G (p.Ile1427Val) c.4351A>G (p.Ile1451Val) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38556470T>G | CA352145275 | SCN5A | c.4405A>C (p.Ile1469Leu) c.4408A>C (p.Ile1470Leu) c.4354A>C (p.Ile1452Leu) c.4246A>C (p.Ile1416Leu) c.4279A>C (p.Ile1427Leu) c.4351A>C (p.Ile1451Leu) | |
| 3 | g.38556470T= | CA1358563438 | SCN5A | c.4405A= (p.Ile1469=) c.4408A= (p.Ile1470=) c.4354A= (p.Ile1452=) c.4246A= (p.Ile1416=) c.4279A= (p.Ile1427=) c.4351A= (p.Ile1451=) | |
| 3 | g.38556471G>A | CA433136022 | SCN5A | c.4404C>T (p.Ile1468=) c.4407C>T (p.Ile1469=) c.4353C>T (p.Ile1451=) c.4245C>T (p.Ile1415=) c.4278C>T (p.Ile1426=) c.4350C>T (p.Ile1450=) | COSMIC COSMIC COSMIC |
| 3 | g.38556471G>C | CA352145276 | SCN5A | c.4404C>G (p.Ile1468Met) c.4407C>G (p.Ile1469Met) c.4353C>G (p.Ile1451Met) c.4245C>G (p.Ile1415Met) c.4278C>G (p.Ile1426Met) c.4350C>G (p.Ile1450Met) | |
| 3 | g.38556471G= | CA1358563440 | SCN5A | c.4404C= (p.Ile1468=) c.4407C= (p.Ile1469=) c.4353C= (p.Ile1451=) c.4245C= (p.Ile1415=) c.4278C= (p.Ile1426=) c.4350C= (p.Ile1450=) | |
| 3 | g.38556471G>T | CA433136023 | SCN5A | c.4404C>A (p.Ile1468=) c.4407C>A (p.Ile1469=) c.4353C>A (p.Ile1451=) c.4245C>A (p.Ile1415=) c.4278C>A (p.Ile1426=) c.4350C>A (p.Ile1450=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556472A>C | CA352145278 | SCN5A | c.4403T>G (p.Ile1468Ser) c.4406T>G (p.Ile1469Ser) c.4352T>G (p.Ile1451Ser) c.4244T>G (p.Ile1415Ser) c.4277T>G (p.Ile1426Ser) c.4349T>G (p.Ile1450Ser) | |
| 3 | g.38556472A>G | CA352145279 | SCN5A | c.4403T>C (p.Ile1468Thr) c.4406T>C (p.Ile1469Thr) c.4352T>C (p.Ile1451Thr) c.4244T>C (p.Ile1415Thr) c.4277T>C (p.Ile1426Thr) c.4349T>C (p.Ile1450Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556472A>T | CA352145277 | SCN5A | c.4403T>A (p.Ile1468Asn) c.4406T>A (p.Ile1469Asn) c.4352T>A (p.Ile1451Asn) c.4244T>A (p.Ile1415Asn) c.4277T>A (p.Ile1426Asn) c.4349T>A (p.Ile1450Asn) | |
| 3 | g.38556473T>A | CA018226 | SCN5A | c.4402A>T (p.Ile1468Phe) c.4405A>T (p.Ile1469Phe) c.4351A>T (p.Ile1451Phe) c.4243A>T (p.Ile1415Phe) c.4276A>T (p.Ile1426Phe) c.4348A>T (p.Ile1450Phe) | ClinVar dbSNP |
| 3 | g.38556473T>C | CA352145280 | SCN5A | c.4402A>G (p.Ile1468Val) c.4405A>G (p.Ile1469Val) c.4351A>G (p.Ile1451Val) c.4243A>G (p.Ile1415Val) c.4276A>G (p.Ile1426Val) c.4348A>G (p.Ile1450Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556473T>G | CA352145281 | SCN5A | c.4402A>C (p.Ile1468Leu) c.4405A>C (p.Ile1469Leu) c.4351A>C (p.Ile1451Leu) c.4243A>C (p.Ile1415Leu) c.4276A>C (p.Ile1426Leu) c.4348A>C (p.Ile1450Leu) | |
| 3 | g.38556473T= | CA1358563442 | SCN5A | c.4402A= (p.Ile1468=) c.4405A= (p.Ile1469=) c.4351A= (p.Ile1451=) c.4243A= (p.Ile1415=) c.4276A= (p.Ile1426=) c.4348A= (p.Ile1450=) | |
| 3 | g.38556473_38556476del | CA2586965722 | SCN5A | c.4399_4402del (p.Val1467SerfsTer12) c.4402_4405del (p.Val1468SerfsTer12) c.4348_4351del (p.Val1450SerfsTer12) c.4240_4243del (p.Val1414SerfsTer12) c.4273_4276del (p.Val1425SerfsTer12) c.4345_4348del (p.Val1449SerfsTer12) | |
| 3 | g.38556474G>A | CA063160 | SCN5A | c.4401C>T (p.Val1467=) c.4404C>T (p.Val1468=) c.4350C>T (p.Val1450=) c.4242C>T (p.Val1414=) c.4275C>T (p.Val1425=) c.4347C>T (p.Val1449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556474G>C | CA433136025 | SCN5A | c.4401C>G (p.Val1467=) c.4404C>G (p.Val1468=) c.4350C>G (p.Val1450=) c.4242C>G (p.Val1414=) c.4275C>G (p.Val1425=) c.4347C>G (p.Val1449=) | |
| 3 | g.38556474G= | CA1358563444 | SCN5A | c.4401C= (p.Val1467=) c.4404C= (p.Val1468=) c.4350C= (p.Val1450=) c.4242C= (p.Val1414=) c.4275C= (p.Val1425=) c.4347C= (p.Val1449=) | |
| 3 | g.38556474G>T | CA433136026 | SCN5A | c.4401C>A (p.Val1467=) c.4404C>A (p.Val1468=) c.4350C>A (p.Val1450=) c.4242C>A (p.Val1414=) c.4275C>A (p.Val1425=) c.4347C>A (p.Val1449=) | gnomAD v4 |
| 3 | g.38556475del | CA2665110974 | SCN5A | c.4400del (p.Val1467AlafsTer13) c.4403del (p.Val1468AlafsTer13) c.4349del (p.Val1450AlafsTer13) c.4241del (p.Val1414AlafsTer13) c.4274del (p.Val1425AlafsTer13) c.4346del (p.Val1449AlafsTer13) | gnomAD v4 |
| 3 | g.38556475A= | CA1358563447 | SCN5A | c.4400T= (p.Val1467=) c.4403T= (p.Val1468=) c.4349T= (p.Val1450=) c.4241T= (p.Val1414=) c.4274T= (p.Val1425=) c.4346T= (p.Val1449=) | |
| 3 | g.38556475A>C | CA352145282 | SCN5A | c.4400T>G (p.Val1467Gly) c.4403T>G (p.Val1468Gly) c.4349T>G (p.Val1450Gly) c.4241T>G (p.Val1414Gly) c.4274T>G (p.Val1425Gly) c.4346T>G (p.Val1449Gly) | |
| 3 | g.38556475A>G | CA018220 | SCN5A | c.4400T>C (p.Val1467Ala) c.4403T>C (p.Val1468Ala) c.4349T>C (p.Val1450Ala) c.4241T>C (p.Val1414Ala) c.4274T>C (p.Val1425Ala) c.4346T>C (p.Val1449Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556475A>T | CA352145283 | SCN5A | c.4400T>A (p.Val1467Asp) c.4403T>A (p.Val1468Asp) c.4349T>A (p.Val1450Asp) c.4241T>A (p.Val1414Asp) c.4274T>A (p.Val1425Asp) c.4346T>A (p.Val1449Asp) | |
| 3 | g.38556476C>A | CA018214 | SCN5A | c.4399G>T (p.Val1467Phe) c.4402G>T (p.Val1468Phe) c.4348G>T (p.Val1450Phe) c.4240G>T (p.Val1414Phe) c.4273G>T (p.Val1425Phe) c.4345G>T (p.Val1449Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556476C= | CA1358563450 | SCN5A | c.4399G= (p.Val1467=) c.4402G= (p.Val1468=) c.4348G= (p.Val1450=) c.4240G= (p.Val1414=) c.4273G= (p.Val1425=) c.4345G= (p.Val1449=) | |
| 3 | g.38556476C>G | CA352145284 | SCN5A | c.4399G>C (p.Val1467Leu) c.4402G>C (p.Val1468Leu) c.4348G>C (p.Val1450Leu) c.4240G>C (p.Val1414Leu) c.4273G>C (p.Val1425Leu) c.4345G>C (p.Val1449Leu) | |
| 3 | g.38556476C>T | CA352145285 | SCN5A | c.4399G>A (p.Val1467Ile) c.4402G>A (p.Val1468Ile) c.4348G>A (p.Val1450Ile) c.4240G>A (p.Val1414Ile) c.4273G>A (p.Val1425Ile) c.4345G>A (p.Val1449Ile) | |
| 3 | g.38556477A>C | CA433136028 | SCN5A | c.4398T>G (p.Gly1466=) c.4401T>G (p.Gly1467=) c.4347T>G (p.Gly1449=) c.4239T>G (p.Gly1413=) c.4272T>G (p.Gly1424=) c.4344T>G (p.Gly1448=) | ClinVar |
| 3 | g.38556477A>G | CA433136029 | SCN5A | c.4398T>C (p.Gly1466=) c.4401T>C (p.Gly1467=) c.4347T>C (p.Gly1449=) c.4239T>C (p.Gly1413=) c.4272T>C (p.Gly1424=) c.4344T>C (p.Gly1448=) | ClinVar |
| 3 | g.38556477A>T | CA433136030 | SCN5A | c.4398T>A (p.Gly1466=) c.4401T>A (p.Gly1467=) c.4347T>A (p.Gly1449=) c.4239T>A (p.Gly1413=) c.4272T>A (p.Gly1424=) c.4344T>A (p.Gly1448=) | |
| 3 | g.38556478C>A | CA352145286 | SCN5A | c.4397G>T (p.Gly1466Val) c.4400G>T (p.Gly1467Val) c.4346G>T (p.Gly1449Val) c.4238G>T (p.Gly1413Val) c.4271G>T (p.Gly1424Val) c.4343G>T (p.Gly1448Val) | |
| 3 | g.38556478C>G | CA352145287 | SCN5A | c.4397G>C (p.Gly1466Ala) c.4400G>C (p.Gly1467Ala) c.4346G>C (p.Gly1449Ala) c.4238G>C (p.Gly1413Ala) c.4271G>C (p.Gly1424Ala) c.4343G>C (p.Gly1448Ala) |