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.38550697_38550699dup | CA915942424 | SCN5A | c.5672_5674dup (p.Ile1891_Thr1892insIle) c.5675_5677dup (p.Ile1892_Thr1893insIle) c.5621_5623dup (p.Ile1874_Thr1875insIle) c.5513_5515dup (p.Ile1838_Thr1839insIle) c.5576_5578dup (p.Ile1859_Thr1860insIle) c.5546_5548dup (p.Ile1849_Thr1850insIle) c.5618_5620dup (p.Ile1873_Thr1874insIle) | ClinVar dbSNP |
| 3 | g.38550696del | CA2586965736 | SCN5A | c.5673del (p.Thr1892ProfsTer29) c.5676del (p.Thr1893ProfsTer29) c.5622del (p.Thr1875ProfsTer29) c.5514del (p.Thr1839ProfsTer29) c.5577del (p.Thr1860ProfsTer29) c.5547del (p.Thr1850ProfsTer29) c.5619del (p.Thr1874ProfsTer29) | |
| 3 | g.38550696G>A | CA064599 | SCN5A | c.5673C>T (p.Ile1891=) c.5676C>T (p.Ile1892=) c.5622C>T (p.Ile1874=) c.5514C>T (p.Ile1838=) c.5577C>T (p.Ile1859=) c.5547C>T (p.Ile1849=) c.5619C>T (p.Ile1873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550696G>C | CA352140360 | SCN5A | c.5673C>G (p.Ile1891Met) c.5676C>G (p.Ile1892Met) c.5622C>G (p.Ile1874Met) c.5514C>G (p.Ile1838Met) c.5577C>G (p.Ile1859Met) c.5547C>G (p.Ile1849Met) c.5619C>G (p.Ile1873Met) | dbSNP |
| 3 | g.38550696G= | CA1358556443 | SCN5A | c.5673C= (p.Ile1891=) c.5676C= (p.Ile1892=) c.5622C= (p.Ile1874=) c.5514C= (p.Ile1838=) c.5577C= (p.Ile1859=) c.5547C= (p.Ile1849=) c.5619C= (p.Ile1873=) | |
| 3 | g.38550696G>T | CA433331657 | SCN5A | c.5673C>A (p.Ile1891=) c.5676C>A (p.Ile1892=) c.5622C>A (p.Ile1874=) c.5514C>A (p.Ile1838=) c.5577C>A (p.Ile1859=) c.5547C>A (p.Ile1849=) c.5619C>A (p.Ile1873=) | |
| 3 | g.38550697A>C | CA352140362 | SCN5A | c.5672T>G (p.Ile1891Ser) c.5675T>G (p.Ile1892Ser) c.5621T>G (p.Ile1874Ser) c.5513T>G (p.Ile1838Ser) c.5576T>G (p.Ile1859Ser) c.5546T>G (p.Ile1849Ser) c.5618T>G (p.Ile1873Ser) | |
| 3 | g.38550697A>G | CA352140364 | SCN5A | c.5672T>C (p.Ile1891Thr) c.5675T>C (p.Ile1892Thr) c.5621T>C (p.Ile1874Thr) c.5513T>C (p.Ile1838Thr) c.5576T>C (p.Ile1859Thr) c.5546T>C (p.Ile1849Thr) c.5618T>C (p.Ile1873Thr) | |
| 3 | g.38550697A>T | CA352140366 | SCN5A | c.5672T>A (p.Ile1891Asn) c.5675T>A (p.Ile1892Asn) c.5621T>A (p.Ile1874Asn) c.5513T>A (p.Ile1838Asn) c.5576T>A (p.Ile1859Asn) c.5546T>A (p.Ile1849Asn) c.5618T>A (p.Ile1873Asn) | |
| 3 | g.38550698T>A | CA352140368 | SCN5A | c.5671A>T (p.Ile1891Phe) c.5674A>T (p.Ile1892Phe) c.5620A>T (p.Ile1874Phe) c.5512A>T (p.Ile1838Phe) c.5575A>T (p.Ile1859Phe) c.5545A>T (p.Ile1849Phe) c.5617A>T (p.Ile1873Phe) | |
| 3 | g.38550698T>C | CA352140370 | SCN5A | c.5671A>G (p.Ile1891Val) c.5674A>G (p.Ile1892Val) c.5620A>G (p.Ile1874Val) c.5512A>G (p.Ile1838Val) c.5575A>G (p.Ile1859Val) c.5545A>G (p.Ile1849Val) c.5617A>G (p.Ile1873Val) | |
| 3 | g.38550698T>G | CA352140372 | SCN5A | c.5671A>C (p.Ile1891Leu) c.5674A>C (p.Ile1892Leu) c.5620A>C (p.Ile1874Leu) c.5512A>C (p.Ile1838Leu) c.5575A>C (p.Ile1859Leu) c.5545A>C (p.Ile1849Leu) c.5617A>C (p.Ile1873Leu) | |
| 3 | g.38550699G>A | CA433331665 | SCN5A | c.5670C>T (p.Pro1890=) c.5673C>T (p.Pro1891=) c.5619C>T (p.Pro1873=) c.5511C>T (p.Pro1837=) c.5574C>T (p.Pro1858=) c.5544C>T (p.Pro1848=) c.5616C>T (p.Pro1872=) | |
| 3 | g.38550699G>C | CA433331667 | SCN5A | c.5670C>G (p.Pro1890=) c.5673C>G (p.Pro1891=) c.5619C>G (p.Pro1873=) c.5511C>G (p.Pro1837=) c.5574C>G (p.Pro1858=) c.5544C>G (p.Pro1848=) c.5616C>G (p.Pro1872=) | |
| 3 | g.38550699G>T | CA433331668 | SCN5A | c.5670C>A (p.Pro1890=) c.5673C>A (p.Pro1891=) c.5619C>A (p.Pro1873=) c.5511C>A (p.Pro1837=) c.5574C>A (p.Pro1858=) c.5544C>A (p.Pro1848=) c.5616C>A (p.Pro1872=) | |
| 3 | g.38550700G>A | CA352140377 | SCN5A | c.5669C>T (p.Pro1890Leu) c.5672C>T (p.Pro1891Leu) c.5618C>T (p.Pro1873Leu) c.5510C>T (p.Pro1837Leu) c.5573C>T (p.Pro1858Leu) c.5543C>T (p.Pro1848Leu) c.5615C>T (p.Pro1872Leu) | |
| 3 | g.38550700G>C | CA352140373 | SCN5A | c.5669C>G (p.Pro1890Arg) c.5672C>G (p.Pro1891Arg) c.5618C>G (p.Pro1873Arg) c.5510C>G (p.Pro1837Arg) c.5573C>G (p.Pro1858Arg) c.5543C>G (p.Pro1848Arg) c.5615C>G (p.Pro1872Arg) | |
| 3 | g.38550700G>T | CA352140375 | SCN5A | c.5669C>A (p.Pro1890His) c.5672C>A (p.Pro1891His) c.5618C>A (p.Pro1873His) c.5510C>A (p.Pro1837His) c.5573C>A (p.Pro1858His) c.5543C>A (p.Pro1848His) c.5615C>A (p.Pro1872His) | |
| 3 | g.38550701G>A | CA352140379 | SCN5A | c.5668C>T (p.Pro1890Ser) c.5671C>T (p.Pro1891Ser) c.5617C>T (p.Pro1873Ser) c.5509C>T (p.Pro1837Ser) c.5572C>T (p.Pro1858Ser) c.5542C>T (p.Pro1848Ser) c.5614C>T (p.Pro1872Ser) | |
| 3 | g.38550701G>C | CA019410 | SCN5A | c.5668C>G (p.Pro1890Ala) c.5671C>G (p.Pro1891Ala) c.5617C>G (p.Pro1873Ala) c.5509C>G (p.Pro1837Ala) c.5572C>G (p.Pro1858Ala) c.5542C>G (p.Pro1848Ala) c.5614C>G (p.Pro1872Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550701G= | CA1358556447 | SCN5A | c.5668C= (p.Pro1890=) c.5671C= (p.Pro1891=) c.5617C= (p.Pro1873=) c.5509C= (p.Pro1837=) c.5572C= (p.Pro1858=) c.5542C= (p.Pro1848=) c.5614C= (p.Pro1872=) | |
| 3 | g.38550701G>T | CA352140381 | SCN5A | c.5668C>A (p.Pro1890Thr) c.5671C>A (p.Pro1891Thr) c.5617C>A (p.Pro1873Thr) c.5509C>A (p.Pro1837Thr) c.5572C>A (p.Pro1858Thr) c.5542C>A (p.Pro1848Thr) c.5614C>A (p.Pro1872Thr) | |
| 3 | g.38550702C>A | CA352140383 | SCN5A | c.5667G>T (p.Glu1889Asp) c.5670G>T (p.Glu1890Asp) c.5616G>T (p.Glu1872Asp) c.5508G>T (p.Glu1836Asp) c.5571G>T (p.Glu1857Asp) c.5541G>T (p.Glu1847Asp) c.5613G>T (p.Glu1871Asp) | |
| 3 | g.38550702C>G | CA352140385 | SCN5A | c.5667G>C (p.Glu1889Asp) c.5670G>C (p.Glu1890Asp) c.5616G>C (p.Glu1872Asp) c.5508G>C (p.Glu1836Asp) c.5571G>C (p.Glu1857Asp) c.5541G>C (p.Glu1847Asp) c.5613G>C (p.Glu1871Asp) | |
| 3 | g.38550702C>T | CA433331670 | SCN5A | c.5667G>A (p.Glu1889=) c.5670G>A (p.Glu1890=) c.5616G>A (p.Glu1872=) c.5508G>A (p.Glu1836=) c.5571G>A (p.Glu1857=) c.5541G>A (p.Glu1847=) c.5613G>A (p.Glu1871=) | |
| 3 | g.38550703T>A | CA352140387 | SCN5A | c.5666A>T (p.Glu1889Val) c.5669A>T (p.Glu1890Val) c.5615A>T (p.Glu1872Val) c.5507A>T (p.Glu1836Val) c.5570A>T (p.Glu1857Val) c.5540A>T (p.Glu1847Val) c.5612A>T (p.Glu1871Val) | |
| 3 | g.38550703T>C | CA352140389 | SCN5A | c.5666A>G (p.Glu1889Gly) c.5669A>G (p.Glu1890Gly) c.5615A>G (p.Glu1872Gly) c.5507A>G (p.Glu1836Gly) c.5570A>G (p.Glu1857Gly) c.5540A>G (p.Glu1847Gly) c.5612A>G (p.Glu1871Gly) | |
| 3 | g.38550703T>G | CA352140390 | SCN5A | c.5666A>C (p.Glu1889Ala) c.5669A>C (p.Glu1890Ala) c.5615A>C (p.Glu1872Ala) c.5507A>C (p.Glu1836Ala) c.5570A>C (p.Glu1857Ala) c.5540A>C (p.Glu1847Ala) c.5612A>C (p.Glu1871Ala) | |
| 3 | g.38550704C>A | CA352140393 | SCN5A | c.5665G>T (p.Glu1889Ter) c.5668G>T (p.Glu1890Ter) c.5614G>T (p.Glu1872Ter) c.5506G>T (p.Glu1836Ter) c.5569G>T (p.Glu1857Ter) c.5539G>T (p.Glu1847Ter) c.5611G>T (p.Glu1871Ter) | dbSNP |
| 3 | g.38550704C= | CA1358556450 | SCN5A | c.5665G= (p.Glu1889=) c.5668G= (p.Glu1890=) c.5614G= (p.Glu1872=) c.5506G= (p.Glu1836=) c.5569G= (p.Glu1857=) c.5539G= (p.Glu1847=) c.5611G= (p.Glu1871=) | |
| 3 | g.38550704C>G | CA352140395 | SCN5A | c.5665G>C (p.Glu1889Gln) c.5668G>C (p.Glu1890Gln) c.5614G>C (p.Glu1872Gln) c.5506G>C (p.Glu1836Gln) c.5569G>C (p.Glu1857Gln) c.5539G>C (p.Glu1847Gln) c.5611G>C (p.Glu1871Gln) | |
| 3 | g.38550704C>T | CA064595 | SCN5A | c.5665G>A (p.Glu1889Lys) c.5668G>A (p.Glu1890Lys) c.5614G>A (p.Glu1872Lys) c.5506G>A (p.Glu1836Lys) c.5569G>A (p.Glu1857Lys) c.5539G>A (p.Glu1847Lys) c.5611G>A (p.Glu1871Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550705G>A | CA433331675 | SCN5A | c.5664C>T (p.Tyr1888=) c.5667C>T (p.Tyr1889=) c.5613C>T (p.Tyr1871=) c.5505C>T (p.Tyr1835=) c.5568C>T (p.Tyr1856=) c.5538C>T (p.Tyr1846=) c.5610C>T (p.Tyr1870=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550705G>C | CA352140397 | SCN5A | c.5664C>G (p.Tyr1888Ter) c.5667C>G (p.Tyr1889Ter) c.5613C>G (p.Tyr1871Ter) c.5505C>G (p.Tyr1835Ter) c.5568C>G (p.Tyr1856Ter) c.5538C>G (p.Tyr1846Ter) c.5610C>G (p.Tyr1870Ter) | |
| 3 | g.38550705G= | CA1358556460 | SCN5A | c.5664C= (p.Tyr1888=) c.5667C= (p.Tyr1889=) c.5613C= (p.Tyr1871=) c.5505C= (p.Tyr1835=) c.5568C= (p.Tyr1856=) c.5538C= (p.Tyr1846=) c.5610C= (p.Tyr1870=) | |
| 3 | g.38550705G>T | CA352140398 | SCN5A | c.5664C>A (p.Tyr1888Ter) c.5667C>A (p.Tyr1889Ter) c.5613C>A (p.Tyr1871Ter) c.5505C>A (p.Tyr1835Ter) c.5568C>A (p.Tyr1856Ter) c.5538C>A (p.Tyr1846Ter) c.5610C>A (p.Tyr1870Ter) | |
| 3 | g.38550706T>A | CA352140403 | SCN5A | c.5663A>T (p.Tyr1888Phe) c.5666A>T (p.Tyr1889Phe) c.5612A>T (p.Tyr1871Phe) c.5504A>T (p.Tyr1835Phe) c.5567A>T (p.Tyr1856Phe) c.5537A>T (p.Tyr1846Phe) c.5609A>T (p.Tyr1870Phe) | |
| 3 | g.38550706T>C | CA72937852 | SCN5A | c.5663A>G (p.Tyr1888Cys) c.5666A>G (p.Tyr1889Cys) c.5612A>G (p.Tyr1871Cys) c.5504A>G (p.Tyr1835Cys) c.5567A>G (p.Tyr1856Cys) c.5537A>G (p.Tyr1846Cys) c.5609A>G (p.Tyr1870Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550706T>G | CA352140401 | SCN5A | c.5663A>C (p.Tyr1888Ser) c.5666A>C (p.Tyr1889Ser) c.5612A>C (p.Tyr1871Ser) c.5504A>C (p.Tyr1835Ser) c.5567A>C (p.Tyr1856Ser) c.5537A>C (p.Tyr1846Ser) c.5609A>C (p.Tyr1870Ser) | |
| 3 | g.38550706T= | CA1358556464 | SCN5A | c.5663A= (p.Tyr1888=) c.5666A= (p.Tyr1889=) c.5612A= (p.Tyr1871=) c.5504A= (p.Tyr1835=) c.5567A= (p.Tyr1856=) c.5537A= (p.Tyr1846=) c.5609A= (p.Tyr1870=) | |
| 3 | g.38550707A>C | CA352140405 | SCN5A | c.5662T>G (p.Tyr1888Asp) c.5665T>G (p.Tyr1889Asp) c.5611T>G (p.Tyr1871Asp) c.5503T>G (p.Tyr1835Asp) c.5566T>G (p.Tyr1856Asp) c.5536T>G (p.Tyr1846Asp) c.5608T>G (p.Tyr1870Asp) | |
| 3 | g.38550707A>G | CA352140406 | SCN5A | c.5662T>C (p.Tyr1888His) c.5665T>C (p.Tyr1889His) c.5611T>C (p.Tyr1871His) c.5503T>C (p.Tyr1835His) c.5566T>C (p.Tyr1856His) c.5536T>C (p.Tyr1846His) c.5608T>C (p.Tyr1870His) | |
| 3 | g.38550707A>T | CA352140408 | SCN5A | c.5662T>A (p.Tyr1888Asn) c.5665T>A (p.Tyr1889Asn) c.5611T>A (p.Tyr1871Asn) c.5503T>A (p.Tyr1835Asn) c.5566T>A (p.Tyr1856Asn) c.5536T>A (p.Tyr1846Asn) c.5608T>A (p.Tyr1870Asn) | |
| 3 | g.38550709_38550711del | CA2580069737 | SCN5A | c.5660_5662del (p.Ser1887del) c.5663_5665del (p.Ser1888del) c.5609_5611del (p.Ser1870del) c.5501_5503del (p.Ser1834del) c.5564_5566del (p.Ser1855del) c.5534_5536del (p.Ser1845del) c.5606_5608del (p.Ser1869del) | ClinVar |
| 3 | g.38550708G>A | CA064589 | SCN5A | c.5661C>T (p.Ser1887=) c.5664C>T (p.Ser1888=) c.5610C>T (p.Ser1870=) c.5502C>T (p.Ser1834=) c.5565C>T (p.Ser1855=) c.5535C>T (p.Ser1845=) c.5607C>T (p.Ser1869=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550708G>C | CA433331681 | SCN5A | c.5661C>G (p.Ser1887=) c.5664C>G (p.Ser1888=) c.5610C>G (p.Ser1870=) c.5502C>G (p.Ser1834=) c.5565C>G (p.Ser1855=) c.5535C>G (p.Ser1845=) c.5607C>G (p.Ser1869=) | gnomAD v4 |
| 3 | g.38550708G= | CA1358556469 | SCN5A | c.5661C= (p.Ser1887=) c.5664C= (p.Ser1888=) c.5610C= (p.Ser1870=) c.5502C= (p.Ser1834=) c.5565C= (p.Ser1855=) c.5535C= (p.Ser1845=) c.5607C= (p.Ser1869=) | |
| 3 | g.38550708G>T | CA433331680 | SCN5A | c.5661C>A (p.Ser1887=) c.5664C>A (p.Ser1888=) c.5610C>A (p.Ser1870=) c.5502C>A (p.Ser1834=) c.5565C>A (p.Ser1855=) c.5535C>A (p.Ser1845=) c.5607C>A (p.Ser1869=) | |
| 3 | g.38550709G>A | CA352140411 | SCN5A | c.5660C>T (p.Ser1887Phe) c.5663C>T (p.Ser1888Phe) c.5609C>T (p.Ser1870Phe) c.5501C>T (p.Ser1834Phe) c.5564C>T (p.Ser1855Phe) c.5534C>T (p.Ser1845Phe) c.5606C>T (p.Ser1869Phe) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38550709G>C | CA352140412 | SCN5A | c.5660C>G (p.Ser1887Cys) c.5663C>G (p.Ser1888Cys) c.5609C>G (p.Ser1870Cys) c.5501C>G (p.Ser1834Cys) c.5564C>G (p.Ser1855Cys) c.5534C>G (p.Ser1845Cys) c.5606C>G (p.Ser1869Cys) |