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.38554326T>A | CA352143668 | SCN5A | c.4763A>T (p.Asn1588Ile) c.4766A>T (p.Asn1589Ile) c.4712A>T (p.Asn1571Ile) c.4604A>T (p.Asn1535Ile) c.4714+49A>T (n.4714+49A>T) n.224A>T c.4637A>T (p.Asn1546Ile) c.4709A>T (p.Asn1570Ile) | |
| 3 | g.38554326T>C | CA352143669 | SCN5A | c.4763A>G (p.Asn1588Ser) c.4766A>G (p.Asn1589Ser) c.4712A>G (p.Asn1571Ser) c.4604A>G (p.Asn1535Ser) c.4714+49A>G (n.4714+49A>G) n.224A>G c.4637A>G (p.Asn1546Ser) c.4709A>G (p.Asn1570Ser) | gnomAD v4 |
| 3 | g.38554326T>G | CA352143670 | SCN5A | c.4763A>C (p.Asn1588Thr) c.4766A>C (p.Asn1589Thr) c.4712A>C (p.Asn1571Thr) c.4604A>C (p.Asn1535Thr) c.4714+49A>C (n.4714+49A>C) n.224A>C c.4637A>C (p.Asn1546Thr) c.4709A>C (p.Asn1570Thr) | |
| 3 | g.38554327T>A | CA352143671 | SCN5A | c.4762A>T (p.Asn1588Tyr) c.4765A>T (p.Asn1589Tyr) c.4711A>T (p.Asn1571Tyr) c.4603A>T (p.Asn1535Tyr) c.4714+48A>T (n.4714+48A>T) n.223A>T c.4636A>T (p.Asn1546Tyr) c.4708A>T (p.Asn1570Tyr) | |
| 3 | g.38554327T>C | CA352143672 | SCN5A | c.4762A>G (p.Asn1588Asp) c.4765A>G (p.Asn1589Asp) c.4711A>G (p.Asn1571Asp) c.4603A>G (p.Asn1535Asp) c.4714+48A>G (n.4714+48A>G) n.223A>G c.4636A>G (p.Asn1546Asp) c.4708A>G (p.Asn1570Asp) | |
| 3 | g.38554327T>G | CA352143673 | SCN5A | c.4762A>C (p.Asn1588His) c.4765A>C (p.Asn1589His) c.4711A>C (p.Asn1571His) c.4603A>C (p.Asn1535His) c.4714+48A>C (n.4714+48A>C) n.223A>C c.4636A>C (p.Asn1546His) c.4708A>C (p.Asn1570His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554327T= | CA1358563147 | SCN5A | c.4762A= (p.Asn1588=) c.4765A= (p.Asn1589=) c.4711A= (p.Asn1571=) c.4603A= (p.Asn1535=) c.4714+48A= (n.4714+48A=) n.223A= c.4636A= (p.Asn1546=) c.4708A= (p.Asn1570=) | |
| 3 | g.38554328G>A | CA433134523 | SCN5A | c.4761C>T (p.Thr1587=) c.4764C>T (p.Thr1588=) c.4710C>T (p.Thr1570=) c.4602C>T (p.Thr1534=) c.4714+47C>T (n.4714+47C>T) n.222C>T c.4635C>T (p.Thr1545=) c.4707C>T (p.Thr1569=) | ClinVar |
| 3 | g.38554328G>C | CA433134524 | SCN5A | c.4761C>G (p.Thr1587=) c.4764C>G (p.Thr1588=) c.4710C>G (p.Thr1570=) c.4602C>G (p.Thr1534=) c.4714+47C>G (n.4714+47C>G) n.222C>G c.4635C>G (p.Thr1545=) c.4707C>G (p.Thr1569=) | |
| 3 | g.38554328G>T | CA433134525 | SCN5A | c.4761C>A (p.Thr1587=) c.4764C>A (p.Thr1588=) c.4710C>A (p.Thr1570=) c.4602C>A (p.Thr1534=) c.4714+47C>A (n.4714+47C>A) n.222C>A c.4635C>A (p.Thr1545=) c.4707C>A (p.Thr1569=) | |
| 3 | g.38554329G>A | CA352143674 | SCN5A | c.4760C>T (p.Thr1587Ile) c.4763C>T (p.Thr1588Ile) c.4709C>T (p.Thr1570Ile) c.4601C>T (p.Thr1534Ile) c.4714+46C>T (n.4714+46C>T) n.221C>T c.4634C>T (p.Thr1545Ile) c.4706C>T (p.Thr1569Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554329G>C | CA352143675 | SCN5A | c.4760C>G (p.Thr1587Ser) c.4763C>G (p.Thr1588Ser) c.4709C>G (p.Thr1570Ser) c.4601C>G (p.Thr1534Ser) c.4714+46C>G (n.4714+46C>G) n.221C>G c.4634C>G (p.Thr1545Ser) c.4706C>G (p.Thr1569Ser) | |
| 3 | g.38554329G= | CA1358563149 | SCN5A | c.4760C= (p.Thr1587=) c.4763C= (p.Thr1588=) c.4709C= (p.Thr1570=) c.4601C= (p.Thr1534=) c.4714+46C= (n.4714+46C=) n.221C= c.4634C= (p.Thr1545=) c.4706C= (p.Thr1569=) | |
| 3 | g.38554329G>T | CA352143676 | SCN5A | c.4760C>A (p.Thr1587Asn) c.4763C>A (p.Thr1588Asn) c.4709C>A (p.Thr1570Asn) c.4601C>A (p.Thr1534Asn) c.4714+46C>A (n.4714+46C>A) n.221C>A c.4634C>A (p.Thr1545Asn) c.4706C>A (p.Thr1569Asn) | dbSNP |
| 3 | g.38554330T>A | CA352143679 | SCN5A | c.4759A>T (p.Thr1587Ser) c.4762A>T (p.Thr1588Ser) c.4708A>T (p.Thr1570Ser) c.4600A>T (p.Thr1534Ser) c.4714+45A>T (n.4714+45A>T) n.220A>T c.4633A>T (p.Thr1545Ser) c.4705A>T (p.Thr1569Ser) | |
| 3 | g.38554330T>C | CA352143677 | SCN5A | c.4759A>G (p.Thr1587Ala) c.4762A>G (p.Thr1588Ala) c.4708A>G (p.Thr1570Ala) c.4600A>G (p.Thr1534Ala) c.4714+45A>G (n.4714+45A>G) n.220A>G c.4633A>G (p.Thr1545Ala) c.4705A>G (p.Thr1569Ala) | |
| 3 | g.38554330T>G | CA352143678 | SCN5A | c.4759A>C (p.Thr1587Pro) c.4762A>C (p.Thr1588Pro) c.4708A>C (p.Thr1570Pro) c.4600A>C (p.Thr1534Pro) c.4714+45A>C (n.4714+45A>C) n.220A>C c.4633A>C (p.Thr1545Pro) c.4705A>C (p.Thr1569Pro) | |
| 3 | g.38554331G>A | CA433134528 | SCN5A | c.4758C>T (p.Phe1586=) c.4761C>T (p.Phe1587=) c.4707C>T (p.Phe1569=) c.4599C>T (p.Phe1533=) c.4714+44C>T (n.4714+44C>T) n.219C>T c.4632C>T (p.Phe1544=) c.4704C>T (p.Phe1568=) | |
| 3 | g.38554331G>C | CA352143680 | SCN5A | c.4758C>G (p.Phe1586Leu) c.4761C>G (p.Phe1587Leu) c.4707C>G (p.Phe1569Leu) c.4599C>G (p.Phe1533Leu) c.4714+44C>G (n.4714+44C>G) n.219C>G c.4632C>G (p.Phe1544Leu) c.4704C>G (p.Phe1568Leu) | |
| 3 | g.38554331G>T | CA352143681 | SCN5A | c.4758C>A (p.Phe1586Leu) c.4761C>A (p.Phe1587Leu) c.4707C>A (p.Phe1569Leu) c.4599C>A (p.Phe1533Leu) c.4714+44C>A (n.4714+44C>A) n.219C>A c.4632C>A (p.Phe1544Leu) c.4704C>A (p.Phe1568Leu) | |
| 3 | g.38554332_38554334del | CA2665110265 | SCN5A | c.4756_4758del (p.Phe1586del) c.4759_4761del (p.Phe1587del) c.4705_4707del (p.Phe1569del) c.4597_4599del (p.Phe1533del) c.4714+42_4714+44del (n.4714+42_4714+44del) n.217_219del c.4630_4632del (p.Phe1544del) c.4702_4704del (p.Phe1568del) | gnomAD v4 |
| 3 | g.38554332A>C | CA352143682 | SCN5A | c.4757T>G (p.Phe1586Cys) c.4760T>G (p.Phe1587Cys) c.4706T>G (p.Phe1569Cys) c.4598T>G (p.Phe1533Cys) c.4714+43T>G (n.4714+43T>G) n.218T>G c.4631T>G (p.Phe1544Cys) c.4703T>G (p.Phe1568Cys) | |
| 3 | g.38554332A>G | CA352143683 | SCN5A | c.4757T>C (p.Phe1586Ser) c.4760T>C (p.Phe1587Ser) c.4706T>C (p.Phe1569Ser) c.4598T>C (p.Phe1533Ser) c.4714+43T>C (n.4714+43T>C) n.218T>C c.4631T>C (p.Phe1544Ser) c.4703T>C (p.Phe1568Ser) | |
| 3 | g.38554332A>T | CA352143684 | SCN5A | c.4757T>A (p.Phe1586Tyr) c.4760T>A (p.Phe1587Tyr) c.4706T>A (p.Phe1569Tyr) c.4598T>A (p.Phe1533Tyr) c.4714+43T>A (n.4714+43T>A) n.218T>A c.4631T>A (p.Phe1544Tyr) c.4703T>A (p.Phe1568Tyr) | |
| 3 | g.38554333A= | CA1358563152 | SCN5A | c.4756T= (p.Phe1586=) c.4759T= (p.Phe1587=) c.4705T= (p.Phe1569=) c.4597T= (p.Phe1533=) c.4714+42T= (n.4714+42T=) n.217T= c.4630T= (p.Phe1544=) c.4702T= (p.Phe1568=) | |
| 3 | g.38554333A>C | CA352143685 | SCN5A | c.4756T>G (p.Phe1586Val) c.4759T>G (p.Phe1587Val) c.4705T>G (p.Phe1569Val) c.4597T>G (p.Phe1533Val) c.4714+42T>G (n.4714+42T>G) n.217T>G c.4630T>G (p.Phe1544Val) c.4702T>G (p.Phe1568Val) | dbSNP gnomAD v2 |
| 3 | g.38554333A>G | CA352143686 | SCN5A | c.4756T>C (p.Phe1586Leu) c.4759T>C (p.Phe1587Leu) c.4705T>C (p.Phe1569Leu) c.4597T>C (p.Phe1533Leu) c.4714+42T>C (n.4714+42T>C) n.217T>C c.4630T>C (p.Phe1544Leu) c.4702T>C (p.Phe1568Leu) | |
| 3 | g.38554333A>T | CA352143687 | SCN5A | c.4756T>A (p.Phe1586Ile) c.4759T>A (p.Phe1587Ile) c.4705T>A (p.Phe1569Ile) c.4597T>A (p.Phe1533Ile) c.4714+42T>A (n.4714+42T>A) n.217T>A c.4630T>A (p.Phe1544Ile) c.4702T>A (p.Phe1568Ile) | |
| 3 | g.38554334G>A | CA433134530 | SCN5A | c.4755C>T (p.Tyr1585=) c.4758C>T (p.Tyr1586=) c.4704C>T (p.Tyr1568=) c.4596C>T (p.Tyr1532=) c.4714+41C>T (n.4714+41C>T) n.216C>T c.4629C>T (p.Tyr1543=) c.4701C>T (p.Tyr1567=) | ClinVar dbSNP |
| 3 | g.38554334G>C | CA352143688 | SCN5A | c.4755C>G (p.Tyr1585Ter) c.4758C>G (p.Tyr1586Ter) c.4704C>G (p.Tyr1568Ter) c.4596C>G (p.Tyr1532Ter) c.4714+41C>G (n.4714+41C>G) n.216C>G c.4629C>G (p.Tyr1543Ter) c.4701C>G (p.Tyr1567Ter) | |
| 3 | g.38554334G>T | CA352143689 | SCN5A | c.4755C>A (p.Tyr1585Ter) c.4758C>A (p.Tyr1586Ter) c.4704C>A (p.Tyr1568Ter) c.4596C>A (p.Tyr1532Ter) c.4714+41C>A (n.4714+41C>A) n.216C>A c.4629C>A (p.Tyr1543Ter) c.4701C>A (p.Tyr1567Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38554335T>A | CA352143691 | SCN5A | c.4754A>T (p.Tyr1585Phe) c.4757A>T (p.Tyr1586Phe) c.4703A>T (p.Tyr1568Phe) c.4595A>T (p.Tyr1532Phe) c.4714+40A>T (n.4714+40A>T) n.215A>T c.4628A>T (p.Tyr1543Phe) c.4700A>T (p.Tyr1567Phe) | |
| 3 | g.38554335T>C | CA352143692 | SCN5A | c.4754A>G (p.Tyr1585Cys) c.4757A>G (p.Tyr1586Cys) c.4703A>G (p.Tyr1568Cys) c.4595A>G (p.Tyr1532Cys) c.4714+40A>G (n.4714+40A>G) n.215A>G c.4628A>G (p.Tyr1543Cys) c.4700A>G (p.Tyr1567Cys) | gnomAD v4 |
| 3 | g.38554335T>G | CA352143690 | SCN5A | c.4754A>C (p.Tyr1585Ser) c.4757A>C (p.Tyr1586Ser) c.4703A>C (p.Tyr1568Ser) c.4595A>C (p.Tyr1532Ser) c.4714+40A>C (n.4714+40A>C) n.215A>C c.4628A>C (p.Tyr1543Ser) c.4700A>C (p.Tyr1567Ser) | |
| 3 | g.38554336A>C | CA352143693 | SCN5A | c.4753T>G (p.Tyr1585Asp) c.4756T>G (p.Tyr1586Asp) c.4702T>G (p.Tyr1568Asp) c.4594T>G (p.Tyr1532Asp) c.4714+39T>G (n.4714+39T>G) n.214T>G c.4627T>G (p.Tyr1543Asp) c.4699T>G (p.Tyr1567Asp) | |
| 3 | g.38554336A>G | CA352143694 | SCN5A | c.4753T>C (p.Tyr1585His) c.4756T>C (p.Tyr1586His) c.4702T>C (p.Tyr1568His) c.4594T>C (p.Tyr1532His) c.4714+39T>C (n.4714+39T>C) n.214T>C c.4627T>C (p.Tyr1543His) c.4699T>C (p.Tyr1567His) | |
| 3 | g.38554336A>T | CA352143695 | SCN5A | c.4753T>A (p.Tyr1585Asn) c.4756T>A (p.Tyr1586Asn) c.4702T>A (p.Tyr1568Asn) c.4594T>A (p.Tyr1532Asn) c.4714+39T>A (n.4714+39T>A) n.214T>A c.4627T>A (p.Tyr1543Asn) c.4699T>A (p.Tyr1567Asn) | |
| 3 | g.38554337G>A | CA433134537 | SCN5A | c.4752C>T (p.Tyr1584=) c.4755C>T (p.Tyr1585=) c.4701C>T (p.Tyr1567=) c.4593C>T (p.Tyr1531=) c.4714+38C>T (n.4714+38C>T) n.213C>T c.4626C>T (p.Tyr1542=) c.4698C>T (p.Tyr1566=) | dbSNP |
| 3 | g.38554337G>C | CA352143696 | SCN5A | c.4752C>G (p.Tyr1584Ter) c.4755C>G (p.Tyr1585Ter) c.4701C>G (p.Tyr1567Ter) c.4593C>G (p.Tyr1531Ter) c.4714+38C>G (n.4714+38C>G) n.213C>G c.4626C>G (p.Tyr1542Ter) c.4698C>G (p.Tyr1566Ter) | |
| 3 | g.38554337G>T | CA352143697 | SCN5A | c.4752C>A (p.Tyr1584Ter) c.4755C>A (p.Tyr1585Ter) c.4701C>A (p.Tyr1567Ter) c.4593C>A (p.Tyr1531Ter) c.4714+38C>A (n.4714+38C>A) n.213C>A c.4626C>A (p.Tyr1542Ter) c.4698C>A (p.Tyr1566Ter) | |
| 3 | g.38554338T>A | CA352143698 | SCN5A | c.4751A>T (p.Tyr1584Phe) c.4754A>T (p.Tyr1585Phe) c.4700A>T (p.Tyr1567Phe) c.4592A>T (p.Tyr1531Phe) c.4714+37A>T (n.4714+37A>T) n.212A>T c.4625A>T (p.Tyr1542Phe) c.4697A>T (p.Tyr1566Phe) | |
| 3 | g.38554338T>C | CA018532 | SCN5A | c.4751A>G (p.Tyr1584Cys) c.4754A>G (p.Tyr1585Cys) c.4700A>G (p.Tyr1567Cys) c.4592A>G (p.Tyr1531Cys) c.4714+37A>G (n.4714+37A>G) n.212A>G c.4625A>G (p.Tyr1542Cys) c.4697A>G (p.Tyr1566Cys) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38554338T>G | CA352143699 | SCN5A | c.4751A>C (p.Tyr1584Ser) c.4754A>C (p.Tyr1585Ser) c.4700A>C (p.Tyr1567Ser) c.4592A>C (p.Tyr1531Ser) c.4714+37A>C (n.4714+37A>C) n.212A>C c.4625A>C (p.Tyr1542Ser) c.4697A>C (p.Tyr1566Ser) | |
| 3 | g.38554338T= | CA1358563156 | SCN5A | c.4751A= (p.Tyr1584=) c.4754A= (p.Tyr1585=) c.4700A= (p.Tyr1567=) c.4592A= (p.Tyr1531=) c.4714+37A= (n.4714+37A=) n.212A= c.4625A= (p.Tyr1542=) c.4697A= (p.Tyr1566=) | |
| 3 | g.38554339A>C | CA352143700 | SCN5A | c.4750T>G (p.Tyr1584Asp) c.4753T>G (p.Tyr1585Asp) c.4699T>G (p.Tyr1567Asp) c.4591T>G (p.Tyr1531Asp) c.4714+36T>G (n.4714+36T>G) n.211T>G c.4624T>G (p.Tyr1542Asp) c.4696T>G (p.Tyr1566Asp) | |
| 3 | g.38554339A>G | CA352143701 | SCN5A | c.4750T>C (p.Tyr1584His) c.4753T>C (p.Tyr1585His) c.4699T>C (p.Tyr1567His) c.4591T>C (p.Tyr1531His) c.4714+36T>C (n.4714+36T>C) n.211T>C c.4624T>C (p.Tyr1542His) c.4696T>C (p.Tyr1566His) | |
| 3 | g.38554339A>T | CA352143702 | SCN5A | c.4750T>A (p.Tyr1584Asn) c.4753T>A (p.Tyr1585Asn) c.4699T>A (p.Tyr1567Asn) c.4591T>A (p.Tyr1531Asn) c.4714+36T>A (n.4714+36T>A) n.211T>A c.4624T>A (p.Tyr1542Asn) c.4696T>A (p.Tyr1566Asn) | |
| 3 | g.38554340G>A | CA433134538 | SCN5A | c.4749C>T (p.His1583=) c.4752C>T (p.His1584=) c.4698C>T (p.His1566=) c.4590C>T (p.His1530=) c.4714+35C>T (n.4714+35C>T) n.210C>T c.4623C>T (p.His1541=) c.4695C>T (p.His1565=) | |
| 3 | g.38554340G>C | CA352143703 | SCN5A | c.4749C>G (p.His1583Gln) c.4752C>G (p.His1584Gln) c.4698C>G (p.His1566Gln) c.4590C>G (p.His1530Gln) c.4714+35C>G (n.4714+35C>G) n.210C>G c.4623C>G (p.His1541Gln) c.4695C>G (p.His1565Gln) | gnomAD v4 |
| 3 | g.38554340G>T | CA352143704 | SCN5A | c.4749C>A (p.His1583Gln) c.4752C>A (p.His1584Gln) c.4698C>A (p.His1566Gln) c.4590C>A (p.His1530Gln) c.4714+35C>A (n.4714+35C>A) n.210C>A c.4623C>A (p.His1541Gln) c.4695C>A (p.His1565Gln) |