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.38550851G>A | CA352140932 | SCN5A | c.5518C>T (p.Pro1840Ser) c.5521C>T (p.Pro1841Ser) c.5467C>T (p.Pro1823Ser) c.5359C>T (p.Pro1787Ser) c.5422C>T (p.Pro1808Ser) c.5392C>T (p.Pro1798Ser) c.5464C>T (p.Pro1822Ser) | |
| 3 | g.38550851G>C | CA352140934 | SCN5A | c.5518C>G (p.Pro1840Ala) c.5521C>G (p.Pro1841Ala) c.5467C>G (p.Pro1823Ala) c.5359C>G (p.Pro1787Ala) c.5422C>G (p.Pro1808Ala) c.5392C>G (p.Pro1798Ala) c.5464C>G (p.Pro1822Ala) | |
| 3 | g.38550851G>T | CA352140933 | SCN5A | c.5518C>A (p.Pro1840Thr) c.5521C>A (p.Pro1841Thr) c.5467C>A (p.Pro1823Thr) c.5359C>A (p.Pro1787Thr) c.5422C>A (p.Pro1808Thr) c.5392C>A (p.Pro1798Thr) c.5464C>A (p.Pro1822Thr) | |
| 3 | g.38550852C>A | CA433332124 | SCN5A | c.5517G>T (p.Leu1839=) c.5520G>T (p.Leu1840=) c.5466G>T (p.Leu1822=) c.5358G>T (p.Leu1786=) c.5421G>T (p.Leu1807=) c.5391G>T (p.Leu1797=) c.5463G>T (p.Leu1821=) | |
| 3 | g.38550852C= | CA1358556744 | SCN5A | c.5517G= (p.Leu1839=) c.5520G= (p.Leu1840=) c.5466G= (p.Leu1822=) c.5358G= (p.Leu1786=) c.5421G= (p.Leu1807=) c.5391G= (p.Leu1797=) c.5463G= (p.Leu1821=) | |
| 3 | g.38550852C>G | CA433332125 | SCN5A | c.5517G>C (p.Leu1839=) c.5520G>C (p.Leu1840=) c.5466G>C (p.Leu1822=) c.5358G>C (p.Leu1786=) c.5421G>C (p.Leu1807=) c.5391G>C (p.Leu1797=) c.5463G>C (p.Leu1821=) | gnomAD v4 |
| 3 | g.38550852C>T | CA433332126 | SCN5A | c.5517G>A (p.Leu1839=) c.5520G>A (p.Leu1840=) c.5466G>A (p.Leu1822=) c.5358G>A (p.Leu1786=) c.5421G>A (p.Leu1807=) c.5391G>A (p.Leu1797=) c.5463G>A (p.Leu1821=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550853A>C | CA352140935 | SCN5A | c.5516T>G (p.Leu1839Arg) c.5519T>G (p.Leu1840Arg) c.5465T>G (p.Leu1822Arg) c.5357T>G (p.Leu1786Arg) c.5420T>G (p.Leu1807Arg) c.5390T>G (p.Leu1797Arg) c.5462T>G (p.Leu1821Arg) | ClinVar dbSNP |
| 3 | g.38550853A>G | CA352140937 | SCN5A | c.5516T>C (p.Leu1839Pro) c.5519T>C (p.Leu1840Pro) c.5465T>C (p.Leu1822Pro) c.5357T>C (p.Leu1786Pro) c.5420T>C (p.Leu1807Pro) c.5390T>C (p.Leu1797Pro) c.5462T>C (p.Leu1821Pro) | |
| 3 | g.38550853A>T | CA352140936 | SCN5A | c.5516T>A (p.Leu1839Gln) c.5519T>A (p.Leu1840Gln) c.5465T>A (p.Leu1822Gln) c.5357T>A (p.Leu1786Gln) c.5420T>A (p.Leu1807Gln) c.5390T>A (p.Leu1797Gln) c.5462T>A (p.Leu1821Gln) | |
| 3 | g.38550854G>A | CA433332127 | SCN5A | c.5515C>T (p.Leu1839=) c.5518C>T (p.Leu1840=) c.5464C>T (p.Leu1822=) c.5356C>T (p.Leu1786=) c.5419C>T (p.Leu1807=) c.5389C>T (p.Leu1797=) c.5461C>T (p.Leu1821=) | |
| 3 | g.38550854G>C | CA352140938 | SCN5A | c.5515C>G (p.Leu1839Val) c.5518C>G (p.Leu1840Val) c.5464C>G (p.Leu1822Val) c.5356C>G (p.Leu1786Val) c.5419C>G (p.Leu1807Val) c.5389C>G (p.Leu1797Val) c.5461C>G (p.Leu1821Val) | |
| 3 | g.38550854G>T | CA352140939 | SCN5A | c.5515C>A (p.Leu1839Met) c.5518C>A (p.Leu1840Met) c.5464C>A (p.Leu1822Met) c.5356C>A (p.Leu1786Met) c.5419C>A (p.Leu1807Met) c.5389C>A (p.Leu1797Met) c.5461C>A (p.Leu1821Met) | |
| 3 | g.38550855G>A | CA433332128 | SCN5A | c.5514C>T (p.Asp1838=) c.5517C>T (p.Asp1839=) c.5463C>T (p.Asp1821=) c.5355C>T (p.Asp1785=) c.5418C>T (p.Asp1806=) c.5388C>T (p.Asp1796=) c.5460C>T (p.Asp1820=) | gnomAD v4 |
| 3 | g.38550855G>C | CA352140940 | SCN5A | c.5514C>G (p.Asp1838Glu) c.5517C>G (p.Asp1839Glu) c.5463C>G (p.Asp1821Glu) c.5355C>G (p.Asp1785Glu) c.5418C>G (p.Asp1806Glu) c.5388C>G (p.Asp1796Glu) c.5460C>G (p.Asp1820Glu) | |
| 3 | g.38550855G>T | CA352140941 | SCN5A | c.5514C>A (p.Asp1838Glu) c.5517C>A (p.Asp1839Glu) c.5463C>A (p.Asp1821Glu) c.5355C>A (p.Asp1785Glu) c.5418C>A (p.Asp1806Glu) c.5388C>A (p.Asp1796Glu) c.5460C>A (p.Asp1820Glu) | |
| 3 | g.38550856T>A | CA352140942 | SCN5A | c.5513A>T (p.Asp1838Val) c.5516A>T (p.Asp1839Val) c.5462A>T (p.Asp1821Val) c.5354A>T (p.Asp1785Val) c.5417A>T (p.Asp1806Val) c.5387A>T (p.Asp1796Val) c.5459A>T (p.Asp1820Val) | |
| 3 | g.38550856T>C | CA019309 | SCN5A | c.5513A>G (p.Asp1838Gly) c.5516A>G (p.Asp1839Gly) c.5462A>G (p.Asp1821Gly) c.5354A>G (p.Asp1785Gly) c.5417A>G (p.Asp1806Gly) c.5387A>G (p.Asp1796Gly) c.5459A>G (p.Asp1820Gly) | ClinVar dbSNP |
| 3 | g.38550856T>G | CA352140943 | SCN5A | c.5513A>C (p.Asp1838Ala) c.5516A>C (p.Asp1839Ala) c.5462A>C (p.Asp1821Ala) c.5354A>C (p.Asp1785Ala) c.5417A>C (p.Asp1806Ala) c.5387A>C (p.Asp1796Ala) c.5459A>C (p.Asp1820Ala) | gnomAD v4 |
| 3 | g.38550856T= | CA1358556749 | SCN5A | c.5513A= (p.Asp1838=) c.5516A= (p.Asp1839=) c.5462A= (p.Asp1821=) c.5354A= (p.Asp1785=) c.5417A= (p.Asp1806=) c.5387A= (p.Asp1796=) c.5459A= (p.Asp1820=) | |
| 3 | g.38550857C>A | CA352140944 | SCN5A | c.5512G>T (p.Asp1838Tyr) c.5515G>T (p.Asp1839Tyr) c.5461G>T (p.Asp1821Tyr) c.5353G>T (p.Asp1785Tyr) c.5416G>T (p.Asp1806Tyr) c.5386G>T (p.Asp1796Tyr) c.5458G>T (p.Asp1820Tyr) | |
| 3 | g.38550857C= | CA1358556753 | SCN5A | c.5512G= (p.Asp1838=) c.5515G= (p.Asp1839=) c.5461G= (p.Asp1821=) c.5353G= (p.Asp1785=) c.5416G= (p.Asp1806=) c.5386G= (p.Asp1796=) c.5458G= (p.Asp1820=) | |
| 3 | g.38550857C>G | CA352140945 | SCN5A | c.5512G>C (p.Asp1838His) c.5515G>C (p.Asp1839His) c.5461G>C (p.Asp1821His) c.5353G>C (p.Asp1785His) c.5416G>C (p.Asp1806His) c.5386G>C (p.Asp1796His) c.5458G>C (p.Asp1820His) | |
| 3 | g.38550857C>T | CA352140946 | SCN5A | c.5512G>A (p.Asp1838Asn) c.5515G>A (p.Asp1839Asn) c.5461G>A (p.Asp1821Asn) c.5353G>A (p.Asp1785Asn) c.5416G>A (p.Asp1806Asn) c.5386G>A (p.Asp1796Asn) c.5458G>A (p.Asp1820Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550858C>A | CA352140947 | SCN5A | c.5511G>T (p.Met1837Ile) c.5514G>T (p.Met1838Ile) c.5460G>T (p.Met1820Ile) c.5352G>T (p.Met1784Ile) c.5415G>T (p.Met1805Ile) c.5385G>T (p.Met1795Ile) c.5457G>T (p.Met1819Ile) | |
| 3 | g.38550858C>G | CA352140948 | SCN5A | c.5511G>C (p.Met1837Ile) c.5514G>C (p.Met1838Ile) c.5460G>C (p.Met1820Ile) c.5352G>C (p.Met1784Ile) c.5415G>C (p.Met1805Ile) c.5385G>C (p.Met1795Ile) c.5457G>C (p.Met1819Ile) | |
| 3 | g.38550858C>T | CA352140949 | SCN5A | c.5511G>A (p.Met1837Ile) c.5514G>A (p.Met1838Ile) c.5460G>A (p.Met1820Ile) c.5352G>A (p.Met1784Ile) c.5415G>A (p.Met1805Ile) c.5385G>A (p.Met1795Ile) c.5457G>A (p.Met1819Ile) | |
| 3 | g.38550859A= | CA1358556755 | SCN5A | c.5510T= (p.Met1837=) c.5513T= (p.Met1838=) c.5459T= (p.Met1820=) c.5351T= (p.Met1784=) c.5414T= (p.Met1805=) c.5384T= (p.Met1795=) c.5456T= (p.Met1819=) | |
| 3 | g.38550859A>C | CA352140952 | SCN5A | c.5510T>G (p.Met1837Arg) c.5513T>G (p.Met1838Arg) c.5459T>G (p.Met1820Arg) c.5351T>G (p.Met1784Arg) c.5414T>G (p.Met1805Arg) c.5384T>G (p.Met1795Arg) c.5456T>G (p.Met1819Arg) | |
| 3 | g.38550859A>G | CA352140950 | SCN5A | c.5510T>C (p.Met1837Thr) c.5513T>C (p.Met1838Thr) c.5459T>C (p.Met1820Thr) c.5351T>C (p.Met1784Thr) c.5414T>C (p.Met1805Thr) c.5384T>C (p.Met1795Thr) c.5456T>C (p.Met1819Thr) | ClinVar |
| 3 | g.38550859A>T | CA352140951 | SCN5A | c.5510T>A (p.Met1837Lys) c.5513T>A (p.Met1838Lys) c.5459T>A (p.Met1820Lys) c.5351T>A (p.Met1784Lys) c.5414T>A (p.Met1805Lys) c.5384T>A (p.Met1795Lys) c.5456T>A (p.Met1819Lys) | ClinVar dbSNP |
| 3 | g.38550860T>A | CA352140953 | SCN5A | c.5509A>T (p.Met1837Leu) c.5512A>T (p.Met1838Leu) c.5458A>T (p.Met1820Leu) c.5350A>T (p.Met1784Leu) c.5413A>T (p.Met1805Leu) c.5383A>T (p.Met1795Leu) c.5455A>T (p.Met1819Leu) | |
| 3 | g.38550860T>C | CA352140954 | SCN5A | c.5509A>G (p.Met1837Val) c.5512A>G (p.Met1838Val) c.5458A>G (p.Met1820Val) c.5350A>G (p.Met1784Val) c.5413A>G (p.Met1805Val) c.5383A>G (p.Met1795Val) c.5455A>G (p.Met1819Val) | dbSNP gnomAD v4 |
| 3 | g.38550860T>G | CA352140955 | SCN5A | c.5509A>C (p.Met1837Leu) c.5512A>C (p.Met1838Leu) c.5458A>C (p.Met1820Leu) c.5350A>C (p.Met1784Leu) c.5413A>C (p.Met1805Leu) c.5383A>C (p.Met1795Leu) c.5455A>C (p.Met1819Leu) | |
| 3 | g.38550860T= | CA1358556759 | SCN5A | c.5509A= (p.Met1837=) c.5512A= (p.Met1838=) c.5458A= (p.Met1820=) c.5350A= (p.Met1784=) c.5413A= (p.Met1805=) c.5383A= (p.Met1795=) c.5455A= (p.Met1819=) | |
| 3 | g.38550861G>A | CA16604557 | SCN5A | c.5508C>T (p.Asn1836=) c.5511C>T (p.Asn1837=) c.5457C>T (p.Asn1819=) c.5349C>T (p.Asn1783=) c.5412C>T (p.Asn1804=) c.5382C>T (p.Asn1794=) c.5454C>T (p.Asn1818=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550861G>C | CA352140956 | SCN5A | c.5508C>G (p.Asn1836Lys) c.5511C>G (p.Asn1837Lys) c.5457C>G (p.Asn1819Lys) c.5349C>G (p.Asn1783Lys) c.5412C>G (p.Asn1804Lys) c.5382C>G (p.Asn1794Lys) c.5454C>G (p.Asn1818Lys) | |
| 3 | g.38550861G= | CA1358556765 | SCN5A | c.5508C= (p.Asn1836=) c.5511C= (p.Asn1837=) c.5457C= (p.Asn1819=) c.5349C= (p.Asn1783=) c.5412C= (p.Asn1804=) c.5382C= (p.Asn1794=) c.5454C= (p.Asn1818=) | |
| 3 | g.38550861G>T | CA16604559 | SCN5A | c.5508C>A (p.Asn1836Lys) c.5511C>A (p.Asn1837Lys) c.5457C>A (p.Asn1819Lys) c.5349C>A (p.Asn1783Lys) c.5412C>A (p.Asn1804Lys) c.5382C>A (p.Asn1794Lys) c.5454C>A (p.Asn1818Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550862T>A | CA352140957 | SCN5A | c.5507A>T (p.Asn1836Ile) c.5510A>T (p.Asn1837Ile) c.5456A>T (p.Asn1819Ile) c.5348A>T (p.Asn1783Ile) c.5411A>T (p.Asn1804Ile) c.5381A>T (p.Asn1794Ile) c.5453A>T (p.Asn1818Ile) | |
| 3 | g.38550862T>C | CA352140958 | SCN5A | c.5507A>G (p.Asn1836Ser) c.5510A>G (p.Asn1837Ser) c.5456A>G (p.Asn1819Ser) c.5348A>G (p.Asn1783Ser) c.5411A>G (p.Asn1804Ser) c.5381A>G (p.Asn1794Ser) c.5453A>G (p.Asn1818Ser) | |
| 3 | g.38550862T>G | CA352140959 | SCN5A | c.5507A>C (p.Asn1836Thr) c.5510A>C (p.Asn1837Thr) c.5456A>C (p.Asn1819Thr) c.5348A>C (p.Asn1783Thr) c.5411A>C (p.Asn1804Thr) c.5381A>C (p.Asn1794Thr) c.5453A>C (p.Asn1818Thr) | |
| 3 | g.38550863T>A | CA352140960 | SCN5A | c.5506A>T (p.Asn1836Tyr) c.5509A>T (p.Asn1837Tyr) c.5455A>T (p.Asn1819Tyr) c.5347A>T (p.Asn1783Tyr) c.5410A>T (p.Asn1804Tyr) c.5380A>T (p.Asn1794Tyr) c.5452A>T (p.Asn1818Tyr) | |
| 3 | g.38550863T>C | CA352140961 | SCN5A | c.5506A>G (p.Asn1836Asp) c.5509A>G (p.Asn1837Asp) c.5455A>G (p.Asn1819Asp) c.5347A>G (p.Asn1783Asp) c.5410A>G (p.Asn1804Asp) c.5380A>G (p.Asn1794Asp) c.5452A>G (p.Asn1818Asp) | |
| 3 | g.38550863T>G | CA352140962 | SCN5A | c.5506A>C (p.Asn1836His) c.5509A>C (p.Asn1837His) c.5455A>C (p.Asn1819His) c.5347A>C (p.Asn1783His) c.5410A>C (p.Asn1804His) c.5380A>C (p.Asn1794His) c.5452A>C (p.Asn1818His) | |
| 3 | g.38550864G>A | CA433332136 | SCN5A | c.5505C>T (p.Ile1835=) c.5508C>T (p.Ile1836=) c.5454C>T (p.Ile1818=) c.5346C>T (p.Ile1782=) c.5409C>T (p.Ile1803=) c.5379C>T (p.Ile1793=) c.5451C>T (p.Ile1817=) | |
| 3 | g.38550864G>C | CA352140963 | SCN5A | c.5505C>G (p.Ile1835Met) c.5508C>G (p.Ile1836Met) c.5454C>G (p.Ile1818Met) c.5346C>G (p.Ile1782Met) c.5409C>G (p.Ile1803Met) c.5379C>G (p.Ile1793Met) c.5451C>G (p.Ile1817Met) | |
| 3 | g.38550864G>T | CA433332138 | SCN5A | c.5505C>A (p.Ile1835=) c.5508C>A (p.Ile1836=) c.5454C>A (p.Ile1818=) c.5346C>A (p.Ile1782=) c.5409C>A (p.Ile1803=) c.5379C>A (p.Ile1793=) c.5451C>A (p.Ile1817=) | ClinVar dbSNP |
| 3 | g.38550865A= | CA1358556770 | SCN5A | c.5504T= (p.Ile1835=) c.5507T= (p.Ile1836=) c.5453T= (p.Ile1818=) c.5345T= (p.Ile1782=) c.5408T= (p.Ile1803=) c.5378T= (p.Ile1793=) c.5450T= (p.Ile1817=) | |
| 3 | g.38550865A>C | CA352140964 | SCN5A | c.5504T>G (p.Ile1835Ser) c.5507T>G (p.Ile1836Ser) c.5453T>G (p.Ile1818Ser) c.5345T>G (p.Ile1782Ser) c.5408T>G (p.Ile1803Ser) c.5378T>G (p.Ile1793Ser) c.5450T>G (p.Ile1817Ser) |