WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550815T>A | CA352140851 | SCN5A | c.5554A>T (p.Ile1852Phe) c.5557A>T (p.Ile1853Phe) c.5503A>T (p.Ile1835Phe) c.5395A>T (p.Ile1799Phe) c.5458A>T (p.Ile1820Phe) c.5428A>T (p.Ile1810Phe) c.5500A>T (p.Ile1834Phe) | |
| 3 | g.38550815T>C | CA352140852 | SCN5A | c.5554A>G (p.Ile1852Val) c.5557A>G (p.Ile1853Val) c.5503A>G (p.Ile1835Val) c.5395A>G (p.Ile1799Val) c.5458A>G (p.Ile1820Val) c.5428A>G (p.Ile1810Val) c.5500A>G (p.Ile1834Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550815T>G | CA352140853 | SCN5A | c.5554A>C (p.Ile1852Leu) c.5557A>C (p.Ile1853Leu) c.5503A>C (p.Ile1835Leu) c.5395A>C (p.Ile1799Leu) c.5458A>C (p.Ile1820Leu) c.5428A>C (p.Ile1810Leu) c.5500A>C (p.Ile1834Leu) | ClinVar dbSNP |
| 3 | g.38550815T= | CA1358556649 | SCN5A | c.5554A= (p.Ile1852=) c.5557A= (p.Ile1853=) c.5503A= (p.Ile1835=) c.5395A= (p.Ile1799=) c.5458A= (p.Ile1820=) c.5428A= (p.Ile1810=) c.5500A= (p.Ile1834=) | |
| 3 | g.38550816G>A | CA433332064 | SCN5A | c.5553C>T (p.Asp1851=) c.5556C>T (p.Asp1852=) c.5502C>T (p.Asp1834=) c.5394C>T (p.Asp1798=) c.5457C>T (p.Asp1819=) c.5427C>T (p.Asp1809=) c.5499C>T (p.Asp1833=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38550816G>C | CA352140854 | SCN5A | c.5553C>G (p.Asp1851Glu) c.5556C>G (p.Asp1852Glu) c.5502C>G (p.Asp1834Glu) c.5394C>G (p.Asp1798Glu) c.5457C>G (p.Asp1819Glu) c.5427C>G (p.Asp1809Glu) c.5499C>G (p.Asp1833Glu) | |
| 3 | g.38550816G= | CA1358556655 | SCN5A | c.5553C= (p.Asp1851=) c.5556C= (p.Asp1852=) c.5502C= (p.Asp1834=) c.5394C= (p.Asp1798=) c.5457C= (p.Asp1819=) c.5427C= (p.Asp1809=) c.5499C= (p.Asp1833=) | |
| 3 | g.38550816G>T | CA352140855 | SCN5A | c.5553C>A (p.Asp1851Glu) c.5556C>A (p.Asp1852Glu) c.5502C>A (p.Asp1834Glu) c.5394C>A (p.Asp1798Glu) c.5457C>A (p.Asp1819Glu) c.5427C>A (p.Asp1809Glu) c.5499C>A (p.Asp1833Glu) | |
| 3 | g.38550817T>A | CA064529 | SCN5A | c.5552A>T (p.Asp1851Val) c.5555A>T (p.Asp1852Val) c.5501A>T (p.Asp1834Val) c.5393A>T (p.Asp1798Val) c.5456A>T (p.Asp1819Val) c.5426A>T (p.Asp1809Val) c.5498A>T (p.Asp1833Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38550817T>C | CA352140857 | SCN5A | c.5552A>G (p.Asp1851Gly) c.5555A>G (p.Asp1852Gly) c.5501A>G (p.Asp1834Gly) c.5393A>G (p.Asp1798Gly) c.5456A>G (p.Asp1819Gly) c.5426A>G (p.Asp1809Gly) c.5498A>G (p.Asp1833Gly) | |
| 3 | g.38550817T>G | CA352140856 | SCN5A | c.5552A>C (p.Asp1851Ala) c.5555A>C (p.Asp1852Ala) c.5501A>C (p.Asp1834Ala) c.5393A>C (p.Asp1798Ala) c.5456A>C (p.Asp1819Ala) c.5426A>C (p.Asp1809Ala) c.5498A>C (p.Asp1833Ala) | |
| 3 | g.38550817T= | CA1358556659 | SCN5A | c.5552A= (p.Asp1851=) c.5555A= (p.Asp1852=) c.5501A= (p.Asp1834=) c.5393A= (p.Asp1798=) c.5456A= (p.Asp1819=) c.5426A= (p.Asp1809=) c.5498A= (p.Asp1833=) | |
| 3 | g.38550818C>A | CA352140858 | SCN5A | c.5551G>T (p.Asp1851Tyr) c.5554G>T (p.Asp1852Tyr) c.5500G>T (p.Asp1834Tyr) c.5392G>T (p.Asp1798Tyr) c.5455G>T (p.Asp1819Tyr) c.5425G>T (p.Asp1809Tyr) c.5497G>T (p.Asp1833Tyr) | |
| 3 | g.38550818C>G | CA352140859 | SCN5A | c.5551G>C (p.Asp1851His) c.5554G>C (p.Asp1852His) c.5500G>C (p.Asp1834His) c.5392G>C (p.Asp1798His) c.5455G>C (p.Asp1819His) c.5425G>C (p.Asp1809His) c.5497G>C (p.Asp1833His) | |
| 3 | g.38550818C>T | CA352140860 | SCN5A | c.5551G>A (p.Asp1851Asn) c.5554G>A (p.Asp1852Asn) c.5500G>A (p.Asp1834Asn) c.5392G>A (p.Asp1798Asn) c.5455G>A (p.Asp1819Asn) c.5425G>A (p.Asp1809Asn) c.5497G>A (p.Asp1833Asn) | gnomAD v4 |
| 3 | g.38550819C>A | CA352140861 | SCN5A | c.5550G>T (p.Met1850Ile) c.5553G>T (p.Met1851Ile) c.5499G>T (p.Met1833Ile) c.5391G>T (p.Met1797Ile) c.5454G>T (p.Met1818Ile) c.5424G>T (p.Met1808Ile) c.5496G>T (p.Met1832Ile) | |
| 3 | g.38550819C= | CA1358556662 | SCN5A | c.5550G= (p.Met1850=) c.5553G= (p.Met1851=) c.5499G= (p.Met1833=) c.5391G= (p.Met1797=) c.5454G= (p.Met1818=) c.5424G= (p.Met1808=) c.5496G= (p.Met1832=) | |
| 3 | g.38550819C>G | CA352140862 | SCN5A | c.5550G>C (p.Met1850Ile) c.5553G>C (p.Met1851Ile) c.5499G>C (p.Met1833Ile) c.5391G>C (p.Met1797Ile) c.5454G>C (p.Met1818Ile) c.5424G>C (p.Met1808Ile) c.5496G>C (p.Met1832Ile) | |
| 3 | g.38550819C>T | CA352140863 | SCN5A | c.5550G>A (p.Met1850Ile) c.5553G>A (p.Met1851Ile) c.5499G>A (p.Met1833Ile) c.5391G>A (p.Met1797Ile) c.5454G>A (p.Met1818Ile) c.5424G>A (p.Met1808Ile) c.5496G>A (p.Met1832Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550820A= | CA1358556669 | SCN5A | c.5549T= (p.Met1850=) c.5552T= (p.Met1851=) c.5498T= (p.Met1833=) c.5390T= (p.Met1797=) c.5453T= (p.Met1818=) c.5423T= (p.Met1808=) c.5495T= (p.Met1832=) | |
| 3 | g.38550820A>C | CA352140864 | SCN5A | c.5549T>G (p.Met1850Arg) c.5552T>G (p.Met1851Arg) c.5498T>G (p.Met1833Arg) c.5390T>G (p.Met1797Arg) c.5453T>G (p.Met1818Arg) c.5423T>G (p.Met1808Arg) c.5495T>G (p.Met1832Arg) | |
| 3 | g.38550820A>G | CA352140866 | SCN5A | c.5549T>C (p.Met1850Thr) c.5552T>C (p.Met1851Thr) c.5498T>C (p.Met1833Thr) c.5390T>C (p.Met1797Thr) c.5453T>C (p.Met1818Thr) c.5423T>C (p.Met1808Thr) c.5495T>C (p.Met1832Thr) | |
| 3 | g.38550820A>T | CA352140865 | SCN5A | c.5549T>A (p.Met1850Lys) c.5552T>A (p.Met1851Lys) c.5498T>A (p.Met1833Lys) c.5390T>A (p.Met1797Lys) c.5453T>A (p.Met1818Lys) c.5423T>A (p.Met1808Lys) c.5495T>A (p.Met1832Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550824_38550832del | CA2573052150 | SCN5A | c.5541_5549del (p.Ile1847_Cys1849del) c.5544_5552del (p.Ile1848_Cys1850del) c.5490_5498del (p.Ile1830_Cys1832del) c.5382_5390del (p.Ile1794_Cys1796del) c.5445_5453del (p.Ile1815_Cys1817del) c.5415_5423del (p.Ile1805_Cys1807del) c.5487_5495del (p.Ile1829_Cys1831del) | ClinVar dbSNP |
| 3 | g.38550821T>A | CA352140867 | SCN5A | c.5548A>T (p.Met1850Leu) c.5551A>T (p.Met1851Leu) c.5497A>T (p.Met1833Leu) c.5389A>T (p.Met1797Leu) c.5452A>T (p.Met1818Leu) c.5422A>T (p.Met1808Leu) c.5494A>T (p.Met1832Leu) | |
| 3 | g.38550821T>C | CA352140868 | SCN5A | c.5548A>G (p.Met1850Val) c.5551A>G (p.Met1851Val) c.5497A>G (p.Met1833Val) c.5389A>G (p.Met1797Val) c.5452A>G (p.Met1818Val) c.5422A>G (p.Met1808Val) c.5494A>G (p.Met1832Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550821T>G | CA352140869 | SCN5A | c.5548A>C (p.Met1850Leu) c.5551A>C (p.Met1851Leu) c.5497A>C (p.Met1833Leu) c.5389A>C (p.Met1797Leu) c.5452A>C (p.Met1818Leu) c.5422A>C (p.Met1808Leu) c.5494A>C (p.Met1832Leu) | |
| 3 | g.38550821T= | CA1358556671 | SCN5A | c.5548A= (p.Met1850=) c.5551A= (p.Met1851=) c.5497A= (p.Met1833=) c.5389A= (p.Met1797=) c.5452A= (p.Met1818=) c.5422A= (p.Met1808=) c.5494A= (p.Met1832=) | |
| 3 | g.38550822G>A | CA433332072 | SCN5A | c.5547C>T (p.Cys1849=) c.5550C>T (p.Cys1850=) c.5496C>T (p.Cys1832=) c.5388C>T (p.Cys1796=) c.5451C>T (p.Cys1817=) c.5421C>T (p.Cys1807=) c.5493C>T (p.Cys1831=) | dbSNP |
| 3 | g.38550822G>C | CA352140870 | SCN5A | c.5547C>G (p.Cys1849Trp) c.5550C>G (p.Cys1850Trp) c.5496C>G (p.Cys1832Trp) c.5388C>G (p.Cys1796Trp) c.5451C>G (p.Cys1817Trp) c.5421C>G (p.Cys1807Trp) c.5493C>G (p.Cys1831Trp) | |
| 3 | g.38550822G= | CA1358556672 | SCN5A | c.5547C= (p.Cys1849=) c.5550C= (p.Cys1850=) c.5496C= (p.Cys1832=) c.5388C= (p.Cys1796=) c.5451C= (p.Cys1817=) c.5421C= (p.Cys1807=) c.5493C= (p.Cys1831=) | |
| 3 | g.38550822G>T | CA352140871 | SCN5A | c.5547C>A (p.Cys1849Ter) c.5550C>A (p.Cys1850Ter) c.5496C>A (p.Cys1832Ter) c.5388C>A (p.Cys1796Ter) c.5451C>A (p.Cys1817Ter) c.5421C>A (p.Cys1807Ter) c.5493C>A (p.Cys1831Ter) | dbSNP |
| 3 | g.38550823C>A | CA352140873 | SCN5A | c.5546G>T (p.Cys1849Phe) c.5549G>T (p.Cys1850Phe) c.5495G>T (p.Cys1832Phe) c.5387G>T (p.Cys1796Phe) c.5450G>T (p.Cys1817Phe) c.5420G>T (p.Cys1807Phe) c.5492G>T (p.Cys1831Phe) | |
| 3 | g.38550823C= | CA1358556673 | SCN5A | c.5546G= (p.Cys1849=) c.5549G= (p.Cys1850=) c.5495G= (p.Cys1832=) c.5387G= (p.Cys1796=) c.5450G= (p.Cys1817=) c.5420G= (p.Cys1807=) c.5492G= (p.Cys1831=) | |
| 3 | g.38550823C>G | CA019342 | SCN5A | c.5546G>C (p.Cys1849Ser) c.5549G>C (p.Cys1850Ser) c.5495G>C (p.Cys1832Ser) c.5387G>C (p.Cys1796Ser) c.5450G>C (p.Cys1817Ser) c.5420G>C (p.Cys1807Ser) c.5492G>C (p.Cys1831Ser) | ClinVar dbSNP |
| 3 | g.38550823C>T | CA352140872 | SCN5A | c.5546G>A (p.Cys1849Tyr) c.5549G>A (p.Cys1850Tyr) c.5495G>A (p.Cys1832Tyr) c.5387G>A (p.Cys1796Tyr) c.5450G>A (p.Cys1817Tyr) c.5420G>A (p.Cys1807Tyr) c.5492G>A (p.Cys1831Tyr) | gnomAD v4 |
| 3 | g.38550824A>C | CA352140874 | SCN5A | c.5545T>G (p.Cys1849Gly) c.5548T>G (p.Cys1850Gly) c.5494T>G (p.Cys1832Gly) c.5386T>G (p.Cys1796Gly) c.5449T>G (p.Cys1817Gly) c.5419T>G (p.Cys1807Gly) c.5491T>G (p.Cys1831Gly) | |
| 3 | g.38550824A>G | CA352140876 | SCN5A | c.5545T>C (p.Cys1849Arg) c.5548T>C (p.Cys1850Arg) c.5494T>C (p.Cys1832Arg) c.5386T>C (p.Cys1796Arg) c.5449T>C (p.Cys1817Arg) c.5419T>C (p.Cys1807Arg) c.5491T>C (p.Cys1831Arg) | gnomAD v4 |
| 3 | g.38550824A>T | CA352140875 | SCN5A | c.5545T>A (p.Cys1849Ser) c.5548T>A (p.Cys1850Ser) c.5494T>A (p.Cys1832Ser) c.5386T>A (p.Cys1796Ser) c.5449T>A (p.Cys1817Ser) c.5419T>A (p.Cys1807Ser) c.5491T>A (p.Cys1831Ser) | |
| 3 | g.38550825A>C | CA352140877 | SCN5A | c.5544T>G (p.His1848Gln) c.5547T>G (p.His1849Gln) c.5493T>G (p.His1831Gln) c.5385T>G (p.His1795Gln) c.5448T>G (p.His1816Gln) c.5418T>G (p.His1806Gln) c.5490T>G (p.His1830Gln) | |
| 3 | g.38550825A>G | CA433332079 | SCN5A | c.5544T>C (p.His1848=) c.5547T>C (p.His1849=) c.5493T>C (p.His1831=) c.5385T>C (p.His1795=) c.5448T>C (p.His1816=) c.5418T>C (p.His1806=) c.5490T>C (p.His1830=) | |
| 3 | g.38550825A>T | CA352140878 | SCN5A | c.5544T>A (p.His1848Gln) c.5547T>A (p.His1849Gln) c.5493T>A (p.His1831Gln) c.5385T>A (p.His1795Gln) c.5448T>A (p.His1816Gln) c.5418T>A (p.His1806Gln) c.5490T>A (p.His1830Gln) | |
| 3 | g.38550826T>A | CA352140879 | SCN5A | c.5543A>T (p.His1848Leu) c.5546A>T (p.His1849Leu) c.5492A>T (p.His1831Leu) c.5384A>T (p.His1795Leu) c.5447A>T (p.His1816Leu) c.5417A>T (p.His1806Leu) c.5489A>T (p.His1830Leu) | |
| 3 | g.38550826T>C | CA019336 | SCN5A | c.5543A>G (p.His1848Arg) c.5546A>G (p.His1849Arg) c.5492A>G (p.His1831Arg) c.5384A>G (p.His1795Arg) c.5447A>G (p.His1816Arg) c.5417A>G (p.His1806Arg) c.5489A>G (p.His1830Arg) | ClinVar dbSNP |
| 3 | g.38550826T>G | CA352140880 | SCN5A | c.5543A>C (p.His1848Pro) c.5546A>C (p.His1849Pro) c.5492A>C (p.His1831Pro) c.5384A>C (p.His1795Pro) c.5447A>C (p.His1816Pro) c.5417A>C (p.His1806Pro) c.5489A>C (p.His1830Pro) | |
| 3 | g.38550826T= | CA1358556675 | SCN5A | c.5543A= (p.His1848=) c.5546A= (p.His1849=) c.5492A= (p.His1831=) c.5384A= (p.His1795=) c.5447A= (p.His1816=) c.5417A= (p.His1806=) c.5489A= (p.His1830=) | |
| 3 | g.38550827G>A | CA352140881 | SCN5A | c.5542C>T (p.His1848Tyr) c.5545C>T (p.His1849Tyr) c.5491C>T (p.His1831Tyr) c.5383C>T (p.His1795Tyr) c.5446C>T (p.His1816Tyr) c.5416C>T (p.His1806Tyr) c.5488C>T (p.His1830Tyr) | |
| 3 | g.38550827G>C | CA352140882 | SCN5A | c.5542C>G (p.His1848Asp) c.5545C>G (p.His1849Asp) c.5491C>G (p.His1831Asp) c.5383C>G (p.His1795Asp) c.5446C>G (p.His1816Asp) c.5416C>G (p.His1806Asp) c.5488C>G (p.His1830Asp) | |
| 3 | g.38550827G>T | CA352140883 | SCN5A | c.5542C>A (p.His1848Asn) c.5545C>A (p.His1849Asn) c.5491C>A (p.His1831Asn) c.5383C>A (p.His1795Asn) c.5446C>A (p.His1816Asn) c.5416C>A (p.His1806Asn) c.5488C>A (p.His1830Asn) | |
| 3 | g.38550828G>A | CA433332082 | SCN5A | c.5541C>T (p.Ile1847=) c.5544C>T (p.Ile1848=) c.5490C>T (p.Ile1830=) c.5382C>T (p.Ile1794=) c.5445C>T (p.Ile1815=) c.5415C>T (p.Ile1805=) c.5487C>T (p.Ile1829=) | ClinVar dbSNP gnomAD v4 |