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.38555689_38555703del | CA2586965707 | SCN5A | c.4499_4513del (p.Leu1500_Lys1504del) c.4502_4516del (p.Leu1501_Lys1505del) c.4448_4462del (p.Leu1483_Lys1487del) c.4340_4354del (p.Leu1447_Lys1451del) c.4373_4387del (p.Leu1458_Lys1462del) c.4445_4459del (p.Leu1482_Lys1486del) | |
| 3 | g.38555698C>A | CA018351 | SCN5A | c.4497G>T (p.Lys1499Asn) c.4500G>T (p.Lys1500Asn) c.4446G>T (p.Lys1482Asn) c.4338G>T (p.Lys1446Asn) c.4371G>T (p.Lys1457Asn) c.4443G>T (p.Lys1481Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38555698C= | CA1358562901 | SCN5A | c.4497G= (p.Lys1499=) c.4500G= (p.Lys1500=) c.4446G= (p.Lys1482=) c.4338G= (p.Lys1446=) c.4371G= (p.Lys1457=) c.4443G= (p.Lys1481=) | |
| 3 | g.38555698C>G | CA352144261 | SCN5A | c.4497G>C (p.Lys1499Asn) c.4500G>C (p.Lys1500Asn) c.4446G>C (p.Lys1482Asn) c.4338G>C (p.Lys1446Asn) c.4371G>C (p.Lys1457Asn) c.4443G>C (p.Lys1481Asn) | |
| 3 | g.38555698C>T | CA433135712 | SCN5A | c.4497G>A (p.Lys1499=) c.4500G>A (p.Lys1500=) c.4446G>A (p.Lys1482=) c.4338G>A (p.Lys1446=) c.4371G>A (p.Lys1457=) c.4443G>A (p.Lys1481=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38555702_38555704del | CA2580614210 | SCN5A | c.4495_4497del (p.Lys1499del) c.4498_4500del (p.Lys1500del) c.4444_4446del (p.Lys1482del) c.4336_4338del (p.Lys1446del) c.4369_4371del (p.Lys1457del) c.4441_4443del (p.Lys1481del) | ClinVar dbSNP |
| 3 | g.38555699T>A | CA352144262 | SCN5A | c.4496A>T (p.Lys1499Met) c.4499A>T (p.Lys1500Met) c.4445A>T (p.Lys1482Met) c.4337A>T (p.Lys1446Met) c.4370A>T (p.Lys1457Met) c.4442A>T (p.Lys1481Met) | |
| 3 | g.38555699T>C | CA352144263 | SCN5A | c.4496A>G (p.Lys1499Arg) c.4499A>G (p.Lys1500Arg) c.4445A>G (p.Lys1482Arg) c.4337A>G (p.Lys1446Arg) c.4370A>G (p.Lys1457Arg) c.4442A>G (p.Lys1481Arg) | |
| 3 | g.38555699T>G | CA352144264 | SCN5A | c.4496A>C (p.Lys1499Thr) c.4499A>C (p.Lys1500Thr) c.4445A>C (p.Lys1482Thr) c.4337A>C (p.Lys1446Thr) c.4370A>C (p.Lys1457Thr) c.4442A>C (p.Lys1481Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38555700T>A | CA352144265 | SCN5A | c.4495A>T (p.Lys1499Ter) c.4498A>T (p.Lys1500Ter) c.4444A>T (p.Lys1482Ter) c.4336A>T (p.Lys1446Ter) c.4369A>T (p.Lys1457Ter) c.4441A>T (p.Lys1481Ter) | |
| 3 | g.38555700T>C | CA352144266 | SCN5A | c.4495A>G (p.Lys1499Glu) c.4498A>G (p.Lys1500Glu) c.4444A>G (p.Lys1482Glu) c.4336A>G (p.Lys1446Glu) c.4369A>G (p.Lys1457Glu) c.4441A>G (p.Lys1481Glu) | |
| 3 | g.38555700T>G | CA352144267 | SCN5A | c.4495A>C (p.Lys1499Gln) c.4498A>C (p.Lys1500Gln) c.4444A>C (p.Lys1482Gln) c.4336A>C (p.Lys1446Gln) c.4369A>C (p.Lys1457Gln) c.4441A>C (p.Lys1481Gln) | |
| 3 | g.38555701C>A | CA16617944 | SCN5A | c.4494G>T (p.Lys1498Asn) c.4497G>T (p.Lys1499Asn) c.4443G>T (p.Lys1481Asn) c.4335G>T (p.Lys1445Asn) c.4368G>T (p.Lys1456Asn) c.4440G>T (p.Lys1480Asn) | ClinVar dbSNP |
| 3 | g.38555701C= | CA1358562909 | SCN5A | c.4494G= (p.Lys1498=) c.4497G= (p.Lys1499=) c.4443G= (p.Lys1481=) c.4335G= (p.Lys1445=) c.4368G= (p.Lys1456=) c.4440G= (p.Lys1480=) | |
| 3 | g.38555701C>G | CA352144268 | SCN5A | c.4494G>C (p.Lys1498Asn) c.4497G>C (p.Lys1499Asn) c.4443G>C (p.Lys1481Asn) c.4335G>C (p.Lys1445Asn) c.4368G>C (p.Lys1456Asn) c.4440G>C (p.Lys1480Asn) | |
| 3 | g.38555701C>T | CA433135719 | SCN5A | c.4494G>A (p.Lys1498=) c.4497G>A (p.Lys1499=) c.4443G>A (p.Lys1481=) c.4335G>A (p.Lys1445=) c.4368G>A (p.Lys1456=) c.4440G>A (p.Lys1480=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38555702T>A | CA352144269 | SCN5A | c.4493A>T (p.Lys1498Met) c.4496A>T (p.Lys1499Met) c.4442A>T (p.Lys1481Met) c.4334A>T (p.Lys1445Met) c.4367A>T (p.Lys1456Met) c.4439A>T (p.Lys1480Met) | |
| 3 | g.38555702T>C | CA352144270 | SCN5A | c.4493A>G (p.Lys1498Arg) c.4496A>G (p.Lys1499Arg) c.4442A>G (p.Lys1481Arg) c.4334A>G (p.Lys1445Arg) c.4367A>G (p.Lys1456Arg) c.4439A>G (p.Lys1480Arg) | |
| 3 | g.38555702T>G | CA352144271 | SCN5A | c.4493A>C (p.Lys1498Thr) c.4496A>C (p.Lys1499Thr) c.4442A>C (p.Lys1481Thr) c.4334A>C (p.Lys1445Thr) c.4367A>C (p.Lys1456Thr) c.4439A>C (p.Lys1480Thr) | |
| 3 | g.38555703T>A | CA352144272 | SCN5A | c.4492A>T (p.Lys1498Ter) c.4495A>T (p.Lys1499Ter) c.4441A>T (p.Lys1481Ter) c.4333A>T (p.Lys1445Ter) c.4366A>T (p.Lys1456Ter) c.4438A>T (p.Lys1480Ter) | |
| 3 | g.38555703T>C | CA352144273 | SCN5A | c.4492A>G (p.Lys1498Glu) c.4495A>G (p.Lys1499Glu) c.4441A>G (p.Lys1481Glu) c.4333A>G (p.Lys1445Glu) c.4366A>G (p.Lys1456Glu) c.4438A>G (p.Lys1480Glu) | |
| 3 | g.38555703T>G | CA352144274 | SCN5A | c.4492A>C (p.Lys1498Gln) c.4495A>C (p.Lys1499Gln) c.4441A>C (p.Lys1481Gln) c.4333A>C (p.Lys1445Gln) c.4366A>C (p.Lys1456Gln) c.4438A>C (p.Lys1480Gln) | |
| 3 | g.38555704C>A | CA352144275 | SCN5A | c.4491G>T (p.Met1497Ile) c.4494G>T (p.Met1498Ile) c.4440G>T (p.Met1480Ile) c.4332G>T (p.Met1444Ile) c.4365G>T (p.Met1455Ile) c.4437G>T (p.Met1479Ile) | |
| 3 | g.38555704C>G | CA352144276 | SCN5A | c.4491G>C (p.Met1497Ile) c.4494G>C (p.Met1498Ile) c.4440G>C (p.Met1480Ile) c.4332G>C (p.Met1444Ile) c.4365G>C (p.Met1455Ile) c.4437G>C (p.Met1479Ile) | |
| 3 | g.38555704C>T | CA352144277 | SCN5A | c.4491G>A (p.Met1497Ile) c.4494G>A (p.Met1498Ile) c.4440G>A (p.Met1480Ile) c.4332G>A (p.Met1444Ile) c.4365G>A (p.Met1455Ile) c.4437G>A (p.Met1479Ile) | |
| 3 | g.38555705A= | CA1358562917 | SCN5A | c.4490T= (p.Met1497=) c.4493T= (p.Met1498=) c.4439T= (p.Met1480=) c.4331T= (p.Met1444=) c.4364T= (p.Met1455=) c.4436T= (p.Met1479=) | |
| 3 | g.38555705A>C | CA352144278 | SCN5A | c.4490T>G (p.Met1497Arg) c.4493T>G (p.Met1498Arg) c.4439T>G (p.Met1480Arg) c.4331T>G (p.Met1444Arg) c.4364T>G (p.Met1455Arg) c.4436T>G (p.Met1479Arg) | |
| 3 | g.38555705A>G | CA018346 | SCN5A | c.4490T>C (p.Met1497Thr) c.4493T>C (p.Met1498Thr) c.4439T>C (p.Met1480Thr) c.4331T>C (p.Met1444Thr) c.4364T>C (p.Met1455Thr) c.4436T>C (p.Met1479Thr) | ClinVar dbSNP |
| 3 | g.38555705A>T | CA352144279 | SCN5A | c.4490T>A (p.Met1497Lys) c.4493T>A (p.Met1498Lys) c.4439T>A (p.Met1480Lys) c.4331T>A (p.Met1444Lys) c.4364T>A (p.Met1455Lys) c.4436T>A (p.Met1479Lys) | |
| 3 | g.38555706T>A | CA352144281 | SCN5A | c.4489A>T (p.Met1497Leu) c.4492A>T (p.Met1498Leu) c.4438A>T (p.Met1480Leu) c.4330A>T (p.Met1444Leu) c.4363A>T (p.Met1455Leu) c.4435A>T (p.Met1479Leu) | |
| 3 | g.38555706T>C | CA018339 | SCN5A | c.4489A>G (p.Met1497Val) c.4492A>G (p.Met1498Val) c.4438A>G (p.Met1480Val) c.4330A>G (p.Met1444Val) c.4363A>G (p.Met1455Val) c.4435A>G (p.Met1479Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38555706T>G | CA352144280 | SCN5A | c.4489A>C (p.Met1497Leu) c.4492A>C (p.Met1498Leu) c.4438A>C (p.Met1480Leu) c.4330A>C (p.Met1444Leu) c.4363A>C (p.Met1455Leu) c.4435A>C (p.Met1479Leu) | |
| 3 | g.38555706T= | CA1358562922 | SCN5A | c.4489A= (p.Met1497=) c.4492A= (p.Met1498=) c.4438A= (p.Met1480=) c.4330A= (p.Met1444=) c.4363A= (p.Met1455=) c.4435A= (p.Met1479=) | |
| 3 | g.38555707G>A | CA433135735 | SCN5A | c.4488C>T (p.Ala1496=) c.4491C>T (p.Ala1497=) c.4437C>T (p.Ala1479=) c.4329C>T (p.Ala1443=) c.4362C>T (p.Ala1454=) c.4434C>T (p.Ala1478=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38555707G>C | CA433135737 | SCN5A | c.4488C>G (p.Ala1496=) c.4491C>G (p.Ala1497=) c.4437C>G (p.Ala1479=) c.4329C>G (p.Ala1443=) c.4362C>G (p.Ala1454=) c.4434C>G (p.Ala1478=) | |
| 3 | g.38555707G= | CA1358562926 | SCN5A | c.4488C= (p.Ala1496=) c.4491C= (p.Ala1497=) c.4437C= (p.Ala1479=) c.4329C= (p.Ala1443=) c.4362C= (p.Ala1454=) c.4434C= (p.Ala1478=) | |
| 3 | g.38555707G>T | CA433135736 | SCN5A | c.4488C>A (p.Ala1496=) c.4491C>A (p.Ala1497=) c.4437C>A (p.Ala1479=) c.4329C>A (p.Ala1443=) c.4362C>A (p.Ala1454=) c.4434C>A (p.Ala1478=) | |
| 3 | g.38555708G>A | CA352144282 | SCN5A | c.4487C>T (p.Ala1496Val) c.4490C>T (p.Ala1497Val) c.4436C>T (p.Ala1479Val) c.4328C>T (p.Ala1443Val) c.4361C>T (p.Ala1454Val) c.4433C>T (p.Ala1478Val) | |
| 3 | g.38555708G>C | CA352144283 | SCN5A | c.4487C>G (p.Ala1496Gly) c.4490C>G (p.Ala1497Gly) c.4436C>G (p.Ala1479Gly) c.4328C>G (p.Ala1443Gly) c.4361C>G (p.Ala1454Gly) c.4433C>G (p.Ala1478Gly) | |
| 3 | g.38555708G>T | CA352144284 | SCN5A | c.4487C>A (p.Ala1496Asp) c.4490C>A (p.Ala1497Asp) c.4436C>A (p.Ala1479Asp) c.4328C>A (p.Ala1443Asp) c.4361C>A (p.Ala1454Asp) c.4433C>A (p.Ala1478Asp) | |
| 3 | g.38555709C>A | CA352144285 | SCN5A | c.4486G>T (p.Ala1496Ser) c.4489G>T (p.Ala1497Ser) c.4435G>T (p.Ala1479Ser) c.4327G>T (p.Ala1443Ser) c.4360G>T (p.Ala1454Ser) c.4432G>T (p.Ala1478Ser) | |
| 3 | g.38555709C= | CA1358562927 | SCN5A | c.4486G= (p.Ala1496=) c.4489G= (p.Ala1497=) c.4435G= (p.Ala1479=) c.4327G= (p.Ala1443=) c.4360G= (p.Ala1454=) c.4432G= (p.Ala1478=) | |
| 3 | g.38555709C>G | CA352144286 | SCN5A | c.4486G>C (p.Ala1496Pro) c.4489G>C (p.Ala1497Pro) c.4435G>C (p.Ala1479Pro) c.4327G>C (p.Ala1443Pro) c.4360G>C (p.Ala1454Pro) c.4432G>C (p.Ala1478Pro) | ClinVar |
| 3 | g.38555709C>T | CA352144287 | SCN5A | c.4486G>A (p.Ala1496Thr) c.4489G>A (p.Ala1497Thr) c.4435G>A (p.Ala1479Thr) c.4327G>A (p.Ala1443Thr) c.4360G>A (p.Ala1454Thr) c.4432G>A (p.Ala1478Thr) | dbSNP |
| 3 | g.38555710A>C | CA352144288 | SCN5A | c.4485T>G (p.Asn1495Lys) c.4488T>G (p.Asn1496Lys) c.4434T>G (p.Asn1478Lys) c.4326T>G (p.Asn1442Lys) c.4359T>G (p.Asn1453Lys) c.4431T>G (p.Asn1477Lys) | |
| 3 | g.38555710A>G | CA433135743 | SCN5A | c.4485T>C (p.Asn1495=) c.4488T>C (p.Asn1496=) c.4434T>C (p.Asn1478=) c.4326T>C (p.Asn1442=) c.4359T>C (p.Asn1453=) c.4431T>C (p.Asn1477=) | gnomAD v4 |
| 3 | g.38555710A>T | CA352144289 | SCN5A | c.4485T>A (p.Asn1495Lys) c.4488T>A (p.Asn1496Lys) c.4434T>A (p.Asn1478Lys) c.4326T>A (p.Asn1442Lys) c.4359T>A (p.Asn1453Lys) c.4431T>A (p.Asn1477Lys) | |
| 3 | g.38555711T>A | CA352144290 | SCN5A | c.4484A>T (p.Asn1495Ile) c.4487A>T (p.Asn1496Ile) c.4433A>T (p.Asn1478Ile) c.4325A>T (p.Asn1442Ile) c.4358A>T (p.Asn1453Ile) c.4430A>T (p.Asn1477Ile) | |
| 3 | g.38555711T>C | CA352144291 | SCN5A | c.4484A>G (p.Asn1495Ser) c.4487A>G (p.Asn1496Ser) c.4433A>G (p.Asn1478Ser) c.4325A>G (p.Asn1442Ser) c.4358A>G (p.Asn1453Ser) c.4430A>G (p.Asn1477Ser) | |
| 3 | g.38555711T>G | CA352144292 | SCN5A | c.4484A>C (p.Asn1495Thr) c.4487A>C (p.Asn1496Thr) c.4433A>C (p.Asn1478Thr) c.4325A>C (p.Asn1442Thr) c.4358A>C (p.Asn1453Thr) c.4430A>C (p.Asn1477Thr) |