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.38551295_38551303del | CA2573052151 | SCN5A | c.5068_5076del (p.Met1690_Asn1692del) c.5071_5079del (p.Met1691_Asn1693del) c.5017_5025del (p.Met1673_Asn1675del) c.4909_4917del (p.Met1637_Asn1639del) c.4972_4980del (p.Met1658_Asn1660del) c.4942_4950del (p.Met1648_Asn1650del) c.5014_5022del (p.Met1672_Asn1674del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551300A= | CA1358557800 | SCN5A | c.5069T= (p.Met1690=) c.5072T= (p.Met1691=) c.5018T= (p.Met1673=) c.4910T= (p.Met1637=) c.4973T= (p.Met1658=) c.4943T= (p.Met1648=) c.5015T= (p.Met1672=) | |
| 3 | g.38551300A>C | CA352142494 | SCN5A | c.5069T>G (p.Met1690Arg) c.5072T>G (p.Met1691Arg) c.5018T>G (p.Met1673Arg) c.4910T>G (p.Met1637Arg) c.4973T>G (p.Met1658Arg) c.4943T>G (p.Met1648Arg) c.5015T>G (p.Met1672Arg) | |
| 3 | g.38551300A>G | CA018868 | SCN5A | c.5069T>C (p.Met1690Thr) c.5072T>C (p.Met1691Thr) c.5018T>C (p.Met1673Thr) c.4910T>C (p.Met1637Thr) c.4973T>C (p.Met1658Thr) c.4943T>C (p.Met1648Thr) c.5015T>C (p.Met1672Thr) | ClinVar dbSNP |
| 3 | g.38551300A>T | CA352142496 | SCN5A | c.5069T>A (p.Met1690Lys) c.5072T>A (p.Met1691Lys) c.5018T>A (p.Met1673Lys) c.4910T>A (p.Met1637Lys) c.4973T>A (p.Met1658Lys) c.4943T>A (p.Met1648Lys) c.5015T>A (p.Met1672Lys) | |
| 3 | g.38551300_38551301del | CA2739279199 | SCN5A | c.5068_5069del (p.Met1690ValfsTer?) c.5071_5072del (p.Met1691ValfsTer?) c.5017_5018del (p.Met1673ValfsTer?) c.4909_4910del (p.Met1637ValfsTer?) c.4972_4973del (p.Met1658ValfsTer?) c.4942_4943del (p.Met1648ValfsTer?) c.5014_5015del (p.Met1672ValfsTer?) | ClinVar |
| 3 | g.38551301T>A | CA352142501 | SCN5A | c.5068A>T (p.Met1690Leu) c.5071A>T (p.Met1691Leu) c.5017A>T (p.Met1673Leu) c.4909A>T (p.Met1637Leu) c.4972A>T (p.Met1658Leu) c.4942A>T (p.Met1648Leu) c.5014A>T (p.Met1672Leu) | |
| 3 | g.38551301T>C | CA352142499 | SCN5A | c.5068A>G (p.Met1690Val) c.5071A>G (p.Met1691Val) c.5017A>G (p.Met1673Val) c.4909A>G (p.Met1637Val) c.4972A>G (p.Met1658Val) c.4942A>G (p.Met1648Val) c.5014A>G (p.Met1672Val) | |
| 3 | g.38551301T>G | CA352142497 | SCN5A | c.5068A>C (p.Met1690Leu) c.5071A>C (p.Met1691Leu) c.5017A>C (p.Met1673Leu) c.4909A>C (p.Met1637Leu) c.4972A>C (p.Met1658Leu) c.4942A>C (p.Met1648Leu) c.5014A>C (p.Met1672Leu) | |
| 3 | g.38551301_38551304delinsTGTC | CA1358557803 | SCN5A | c.5065_5068delinsGACA (p.Asp1689=) c.5068_5071delinsGACA (p.Asp1690=) c.5014_5017delinsGACA (p.Asp1672=) c.4906_4909delinsGACA (p.Asp1636=) c.4969_4972delinsGACA (p.Asp1657=) c.4939_4942delinsGACA (p.Asp1647=) c.5011_5014delinsGACA (p.Asp1671=) | |
| 3 | g.38551302G>A | CA433332040 | SCN5A | c.5067C>T (p.Asp1689=) c.5070C>T (p.Asp1690=) c.5016C>T (p.Asp1672=) c.4908C>T (p.Asp1636=) c.4971C>T (p.Asp1657=) c.4941C>T (p.Asp1647=) c.5013C>T (p.Asp1671=) | gnomAD v4 |
| 3 | g.38551302G>C | CA352142503 | SCN5A | c.5067C>G (p.Asp1689Glu) c.5070C>G (p.Asp1690Glu) c.5016C>G (p.Asp1672Glu) c.4908C>G (p.Asp1636Glu) c.4971C>G (p.Asp1657Glu) c.4941C>G (p.Asp1647Glu) c.5013C>G (p.Asp1671Glu) | |
| 3 | g.38551302G>T | CA352142505 | SCN5A | c.5067C>A (p.Asp1689Glu) c.5070C>A (p.Asp1690Glu) c.5016C>A (p.Asp1672Glu) c.4908C>A (p.Asp1636Glu) c.4971C>A (p.Asp1657Glu) c.4941C>A (p.Asp1647Glu) c.5013C>A (p.Asp1671Glu) | |
| 3 | g.38551306_38551308del | CA064105 | SCN5A | c.5065_5067del (p.Asp1689del) c.5068_5070del (p.Asp1690del) c.5014_5016del (p.Asp1672del) c.4906_4908del (p.Asp1636del) c.4969_4971del (p.Asp1657del) c.4939_4941del (p.Asp1647del) c.5011_5013del (p.Asp1671del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551303T>A | CA352142507 | SCN5A | c.5066A>T (p.Asp1689Val) c.5069A>T (p.Asp1690Val) c.5015A>T (p.Asp1672Val) c.4907A>T (p.Asp1636Val) c.4970A>T (p.Asp1657Val) c.4940A>T (p.Asp1647Val) c.5012A>T (p.Asp1671Val) | |
| 3 | g.38551303T>C | CA352142509 | SCN5A | c.5066A>G (p.Asp1689Gly) c.5069A>G (p.Asp1690Gly) c.5015A>G (p.Asp1672Gly) c.4907A>G (p.Asp1636Gly) c.4970A>G (p.Asp1657Gly) c.4940A>G (p.Asp1647Gly) c.5012A>G (p.Asp1671Gly) | |
| 3 | g.38551303T>G | CA352142511 | SCN5A | c.5066A>C (p.Asp1689Ala) c.5069A>C (p.Asp1690Ala) c.5015A>C (p.Asp1672Ala) c.4907A>C (p.Asp1636Ala) c.4970A>C (p.Asp1657Ala) c.4940A>C (p.Asp1647Ala) c.5012A>C (p.Asp1671Ala) | |
| 3 | g.38551303_38551304del | CA2586965820 | SCN5A | c.5065_5066del (p.Asp1689HisfsTer?) c.5068_5069del (p.Asp1690HisfsTer?) c.5014_5015del (p.Asp1672HisfsTer?) c.4906_4907del (p.Asp1636HisfsTer?) c.4969_4970del (p.Asp1657HisfsTer?) c.4939_4940del (p.Asp1647HisfsTer?) c.5011_5012del (p.Asp1671HisfsTer?) | |
| 3 | g.38551303_38551304insACATTGC | CA2510554108 | SCN5A | c.5065_5066insGCAATGT (p.Asp1689GlyfsTer?) c.5068_5069insGCAATGT (p.Asp1690GlyfsTer?) c.5014_5015insGCAATGT (p.Asp1672GlyfsTer?) c.4906_4907insGCAATGT (p.Asp1636GlyfsTer?) c.4969_4970insGCAATGT (p.Asp1657GlyfsTer?) c.4939_4940insGCAATGT (p.Asp1647GlyfsTer?) c.5011_5012insGCAATGT (p.Asp1671GlyfsTer?) | |
| 3 | g.38551304C>A | CA352142513 | SCN5A | c.5065G>T (p.Asp1689Tyr) c.5068G>T (p.Asp1690Tyr) c.5014G>T (p.Asp1672Tyr) c.4906G>T (p.Asp1636Tyr) c.4969G>T (p.Asp1657Tyr) c.4939G>T (p.Asp1647Tyr) c.5011G>T (p.Asp1671Tyr) | |
| 3 | g.38551304C= | CA1358557811 | SCN5A | c.5065G= (p.Asp1689=) c.5068G= (p.Asp1690=) c.5014G= (p.Asp1672=) c.4906G= (p.Asp1636=) c.4969G= (p.Asp1657=) c.4939G= (p.Asp1647=) c.5011G= (p.Asp1671=) | |
| 3 | g.38551304C>G | CA352142516 | SCN5A | c.5065G>C (p.Asp1689His) c.5068G>C (p.Asp1690His) c.5014G>C (p.Asp1672His) c.4906G>C (p.Asp1636His) c.4969G>C (p.Asp1657His) c.4939G>C (p.Asp1647His) c.5011G>C (p.Asp1671His) | |
| 3 | g.38551304C>T | CA16609724 | SCN5A | c.5065G>A (p.Asp1689Asn) c.5068G>A (p.Asp1690Asn) c.5014G>A (p.Asp1672Asn) c.4906G>A (p.Asp1636Asn) c.4969G>A (p.Asp1657Asn) c.4939G>A (p.Asp1647Asn) c.5011G>A (p.Asp1671Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551305G>A | CA064103 | SCN5A | c.5064C>T (p.Asp1688=) c.5067C>T (p.Asp1689=) c.5013C>T (p.Asp1671=) c.4905C>T (p.Asp1635=) c.4968C>T (p.Asp1656=) c.4938C>T (p.Asp1646=) c.5010C>T (p.Asp1670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551305G>C | CA352142519 | SCN5A | c.5064C>G (p.Asp1688Glu) c.5067C>G (p.Asp1689Glu) c.5013C>G (p.Asp1671Glu) c.4905C>G (p.Asp1635Glu) c.4968C>G (p.Asp1656Glu) c.4938C>G (p.Asp1646Glu) c.5010C>G (p.Asp1670Glu) | |
| 3 | g.38551305G= | CA1358557822 | SCN5A | c.5064C= (p.Asp1688=) c.5067C= (p.Asp1689=) c.5013C= (p.Asp1671=) c.4905C= (p.Asp1635=) c.4968C= (p.Asp1656=) c.4938C= (p.Asp1646=) c.5010C= (p.Asp1670=) | |
| 3 | g.38551305G>T | CA72938182 | SCN5A | c.5064C>A (p.Asp1688Glu) c.5067C>A (p.Asp1689Glu) c.5013C>A (p.Asp1671Glu) c.4905C>A (p.Asp1635Glu) c.4968C>A (p.Asp1656Glu) c.4938C>A (p.Asp1646Glu) c.5010C>A (p.Asp1670Glu) | dbSNP |
| 3 | g.38551306T>A | CA352142523 | SCN5A | c.5063A>T (p.Asp1688Val) c.5066A>T (p.Asp1689Val) c.5012A>T (p.Asp1671Val) c.4904A>T (p.Asp1635Val) c.4967A>T (p.Asp1656Val) c.4937A>T (p.Asp1646Val) c.5009A>T (p.Asp1670Val) | |
| 3 | g.38551306T>C | CA352142525 | SCN5A | c.5063A>G (p.Asp1688Gly) c.5066A>G (p.Asp1689Gly) c.5012A>G (p.Asp1671Gly) c.4904A>G (p.Asp1635Gly) c.4967A>G (p.Asp1656Gly) c.4937A>G (p.Asp1646Gly) c.5009A>G (p.Asp1670Gly) | |
| 3 | g.38551306T>G | CA352142527 | SCN5A | c.5063A>C (p.Asp1688Ala) c.5066A>C (p.Asp1689Ala) c.5012A>C (p.Asp1671Ala) c.4904A>C (p.Asp1635Ala) c.4967A>C (p.Asp1656Ala) c.4937A>C (p.Asp1646Ala) c.5009A>C (p.Asp1670Ala) | |
| 3 | g.38551307C>A | CA352142528 | SCN5A | c.5062G>T (p.Asp1688Tyr) c.5065G>T (p.Asp1689Tyr) c.5011G>T (p.Asp1671Tyr) c.4903G>T (p.Asp1635Tyr) c.4966G>T (p.Asp1656Tyr) c.4936G>T (p.Asp1646Tyr) c.5008G>T (p.Asp1670Tyr) | |
| 3 | g.38551307C= | CA1358557825 | SCN5A | c.5062G= (p.Asp1688=) c.5065G= (p.Asp1689=) c.5011G= (p.Asp1671=) c.4903G= (p.Asp1635=) c.4966G= (p.Asp1656=) c.4936G= (p.Asp1646=) c.5008G= (p.Asp1670=) | |
| 3 | g.38551307C>G | CA352142530 | SCN5A | c.5062G>C (p.Asp1688His) c.5065G>C (p.Asp1689His) c.5011G>C (p.Asp1671His) c.4903G>C (p.Asp1635His) c.4966G>C (p.Asp1656His) c.4936G>C (p.Asp1646His) c.5008G>C (p.Asp1670His) | |
| 3 | g.38551307C>T | CA064098 | SCN5A | c.5062G>A (p.Asp1688Asn) c.5065G>A (p.Asp1689Asn) c.5011G>A (p.Asp1671Asn) c.4903G>A (p.Asp1635Asn) c.4966G>A (p.Asp1656Asn) c.4936G>A (p.Asp1646Asn) c.5008G>A (p.Asp1670Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551308G>A | CA064093 | SCN5A | c.5061C>T (p.Ile1687=) c.5064C>T (p.Ile1688=) c.5010C>T (p.Ile1670=) c.4902C>T (p.Ile1634=) c.4965C>T (p.Ile1655=) c.4935C>T (p.Ile1645=) c.5007C>T (p.Ile1669=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551308G>C | CA352142532 | SCN5A | c.5061C>G (p.Ile1687Met) c.5064C>G (p.Ile1688Met) c.5010C>G (p.Ile1670Met) c.4902C>G (p.Ile1634Met) c.4965C>G (p.Ile1655Met) c.4935C>G (p.Ile1645Met) c.5007C>G (p.Ile1669Met) | |
| 3 | g.38551308G= | CA1358557831 | SCN5A | c.5061C= (p.Ile1687=) c.5064C= (p.Ile1688=) c.5010C= (p.Ile1670=) c.4902C= (p.Ile1634=) c.4965C= (p.Ile1655=) c.4935C= (p.Ile1645=) c.5007C= (p.Ile1669=) | |
| 3 | g.38551308G>T | CA433332046 | SCN5A | c.5061C>A (p.Ile1687=) c.5064C>A (p.Ile1688=) c.5010C>A (p.Ile1670=) c.4902C>A (p.Ile1634=) c.4965C>A (p.Ile1655=) c.4935C>A (p.Ile1645=) c.5007C>A (p.Ile1669=) | |
| 3 | g.38551309A>C | CA352142534 | SCN5A | c.5060T>G (p.Ile1687Ser) c.5063T>G (p.Ile1688Ser) c.5009T>G (p.Ile1670Ser) c.4901T>G (p.Ile1634Ser) c.4964T>G (p.Ile1655Ser) c.4934T>G (p.Ile1645Ser) c.5006T>G (p.Ile1669Ser) | |
| 3 | g.38551309A>G | CA352142537 | SCN5A | c.5060T>C (p.Ile1687Thr) c.5063T>C (p.Ile1688Thr) c.5009T>C (p.Ile1670Thr) c.4901T>C (p.Ile1634Thr) c.4964T>C (p.Ile1655Thr) c.4934T>C (p.Ile1645Thr) c.5006T>C (p.Ile1669Thr) | |
| 3 | g.38551309A>T | CA352142535 | SCN5A | c.5060T>A (p.Ile1687Asn) c.5063T>A (p.Ile1688Asn) c.5009T>A (p.Ile1670Asn) c.4901T>A (p.Ile1634Asn) c.4964T>A (p.Ile1655Asn) c.4934T>A (p.Ile1645Asn) c.5006T>A (p.Ile1669Asn) | |
| 3 | g.38551310T>A | CA352142539 | SCN5A | c.5059A>T (p.Ile1687Phe) c.5062A>T (p.Ile1688Phe) c.5008A>T (p.Ile1670Phe) c.4900A>T (p.Ile1634Phe) c.4963A>T (p.Ile1655Phe) c.4933A>T (p.Ile1645Phe) c.5005A>T (p.Ile1669Phe) | |
| 3 | g.38551310T>C | CA352142540 | SCN5A | c.5059A>G (p.Ile1687Val) c.5062A>G (p.Ile1688Val) c.5008A>G (p.Ile1670Val) c.4900A>G (p.Ile1634Val) c.4963A>G (p.Ile1655Val) c.4933A>G (p.Ile1645Val) c.5005A>G (p.Ile1669Val) | |
| 3 | g.38551310T>G | CA352142542 | SCN5A | c.5059A>C (p.Ile1687Leu) c.5062A>C (p.Ile1688Leu) c.5008A>C (p.Ile1670Leu) c.4900A>C (p.Ile1634Leu) c.4963A>C (p.Ile1655Leu) c.4933A>C (p.Ile1645Leu) c.5005A>C (p.Ile1669Leu) | |
| 3 | g.38551311G>A | CA433332048 | SCN5A | c.5058C>T (p.Gly1686=) c.5061C>T (p.Gly1687=) c.5007C>T (p.Gly1669=) c.4899C>T (p.Gly1633=) c.4962C>T (p.Gly1654=) c.4932C>T (p.Gly1644=) c.5004C>T (p.Gly1668=) | dbSNP |
| 3 | g.38551311G>C | CA433332049 | SCN5A | c.5058C>G (p.Gly1686=) c.5061C>G (p.Gly1687=) c.5007C>G (p.Gly1669=) c.4899C>G (p.Gly1633=) c.4962C>G (p.Gly1654=) c.4932C>G (p.Gly1644=) c.5004C>G (p.Gly1668=) | |
| 3 | g.38551311G= | CA1358557834 | SCN5A | c.5058C= (p.Gly1686=) c.5061C= (p.Gly1687=) c.5007C= (p.Gly1669=) c.4899C= (p.Gly1633=) c.4962C= (p.Gly1654=) c.4932C= (p.Gly1644=) c.5004C= (p.Gly1668=) | |
| 3 | g.38551311G>T | CA433332050 | SCN5A | c.5058C>A (p.Gly1686=) c.5061C>A (p.Gly1687=) c.5007C>A (p.Gly1669=) c.4899C>A (p.Gly1633=) c.4962C>A (p.Gly1654=) c.4932C>A (p.Gly1644=) c.5004C>A (p.Gly1668=) | gnomAD v4 |
| 3 | g.38551313_38551314insGCGGCC | CA2586965821 | SCN5A | c.5058_5059insCGCGGC (p.Gly1686_Ile1687insArgGly) c.5061_5062insCGCGGC (p.Gly1687_Ile1688insArgGly) c.5007_5008insCGCGGC (p.Gly1669_Ile1670insArgGly) c.4899_4900insCGCGGC (p.Gly1633_Ile1634insArgGly) c.4962_4963insCGCGGC (p.Gly1654_Ile1655insArgGly) c.4932_4933insCGCGGC (p.Gly1644_Ile1645insArgGly) c.5004_5005insCGCGGC (p.Gly1668_Ile1669insArgGly) | |
| 3 | g.38551312C>A | CA352142544 | SCN5A | c.5057G>T (p.Gly1686Val) c.5060G>T (p.Gly1687Val) c.5006G>T (p.Gly1669Val) c.4898G>T (p.Gly1633Val) c.4961G>T (p.Gly1654Val) c.4931G>T (p.Gly1644Val) c.5003G>T (p.Gly1668Val) |