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.38550355_38550364del | CA1047007129 | SCN5A | c.6005_6014del (p.Asp2002ValfsTer?) c.6008_6017del (p.Asp2003ValfsTer?) c.5954_5963del (p.Asp1985ValfsTer?) c.5846_5855del (p.Asp1949ValfsTer?) c.5909_5918del (p.Asp1970ValfsTer?) c.5879_5888del (p.Asp1960ValfsTer?) c.5951_5960del (p.Asp1984ValfsTer?) | gnomAD v3 gnomAD v4 |
| 3 | g.38550361_38550363dup | CA2586965711 | SCN5A | c.6007_6009dup (p.Phe2003_Pro2004insPhe) c.6010_6012dup (p.Phe2004_Pro2005insPhe) c.5956_5958dup (p.Phe1986_Pro1987insPhe) c.5848_5850dup (p.Phe1950_Pro1951insPhe) c.5911_5913dup (p.Phe1971_Pro1972insPhe) c.5881_5883dup (p.Phe1961_Pro1962insPhe) c.5953_5955dup (p.Phe1985_Pro1986insPhe) | |
| 3 | g.38550362A= | CA1358561722 | SCN5A | c.6007T= (p.Phe2003=) c.6010T= (p.Phe2004=) c.5956T= (p.Phe1986=) c.5848T= (p.Phe1950=) c.5911T= (p.Phe1971=) c.5881T= (p.Phe1961=) c.5953T= (p.Phe1985=) | |
| 3 | g.38550362A>C | CA019582 | SCN5A | c.6007T>G (p.Phe2003Val) c.6010T>G (p.Phe2004Val) c.5956T>G (p.Phe1986Val) c.5848T>G (p.Phe1950Val) c.5911T>G (p.Phe1971Val) c.5881T>G (p.Phe1961Val) c.5953T>G (p.Phe1985Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550362A>G | CA019578 | SCN5A | c.6007T>C (p.Phe2003Leu) c.6010T>C (p.Phe2004Leu) c.5956T>C (p.Phe1986Leu) c.5848T>C (p.Phe1950Leu) c.5911T>C (p.Phe1971Leu) c.5881T>C (p.Phe1961Leu) c.5953T>C (p.Phe1985Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550362A>T | CA065172 | SCN5A | c.6007T>A (p.Phe2003Ile) c.6010T>A (p.Phe2004Ile) c.5956T>A (p.Phe1986Ile) c.5848T>A (p.Phe1950Ile) c.5911T>A (p.Phe1971Ile) c.5881T>A (p.Phe1961Ile) c.5953T>A (p.Phe1985Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550363G>A | CA433134162 | SCN5A | c.6006C>T (p.Asp2002=) c.6009C>T (p.Asp2003=) c.5955C>T (p.Asp1985=) c.5847C>T (p.Asp1949=) c.5910C>T (p.Asp1970=) c.5880C>T (p.Asp1960=) c.5952C>T (p.Asp1984=) | dbSNP gnomAD v4 |
| 3 | g.38550363G>C | CA352139106 | SCN5A | c.6006C>G (p.Asp2002Glu) c.6009C>G (p.Asp2003Glu) c.5955C>G (p.Asp1985Glu) c.5847C>G (p.Asp1949Glu) c.5910C>G (p.Asp1970Glu) c.5880C>G (p.Asp1960Glu) c.5952C>G (p.Asp1984Glu) | |
| 3 | g.38550363G= | CA1358561723 | SCN5A | c.6006C= (p.Asp2002=) c.6009C= (p.Asp2003=) c.5955C= (p.Asp1985=) c.5847C= (p.Asp1949=) c.5910C= (p.Asp1970=) c.5880C= (p.Asp1960=) c.5952C= (p.Asp1984=) | |
| 3 | g.38550363G>T | CA352139107 | SCN5A | c.6006C>A (p.Asp2002Glu) c.6009C>A (p.Asp2003Glu) c.5955C>A (p.Asp1985Glu) c.5847C>A (p.Asp1949Glu) c.5910C>A (p.Asp1970Glu) c.5880C>A (p.Asp1960Glu) c.5952C>A (p.Asp1984Glu) | |
| 3 | g.38550364T>A | CA352139110 | SCN5A | c.6005A>T (p.Asp2002Val) c.6008A>T (p.Asp2003Val) c.5954A>T (p.Asp1985Val) c.5846A>T (p.Asp1949Val) c.5909A>T (p.Asp1970Val) c.5879A>T (p.Asp1960Val) c.5951A>T (p.Asp1984Val) | |
| 3 | g.38550364T>C | CA352139111 | SCN5A | c.6005A>G (p.Asp2002Gly) c.6008A>G (p.Asp2003Gly) c.5954A>G (p.Asp1985Gly) c.5846A>G (p.Asp1949Gly) c.5909A>G (p.Asp1970Gly) c.5879A>G (p.Asp1960Gly) c.5951A>G (p.Asp1984Gly) | |
| 3 | g.38550364T>G | CA352139113 | SCN5A | c.6005A>C (p.Asp2002Ala) c.6008A>C (p.Asp2003Ala) c.5954A>C (p.Asp1985Ala) c.5846A>C (p.Asp1949Ala) c.5909A>C (p.Asp1970Ala) c.5879A>C (p.Asp1960Ala) c.5951A>C (p.Asp1984Ala) | |
| 3 | g.38550365C>A | CA352139115 | SCN5A | c.6004G>T (p.Asp2002Tyr) c.6007G>T (p.Asp2003Tyr) c.5953G>T (p.Asp1985Tyr) c.5845G>T (p.Asp1949Tyr) c.5908G>T (p.Asp1970Tyr) c.5878G>T (p.Asp1960Tyr) c.5950G>T (p.Asp1984Tyr) | gnomAD v4 |
| 3 | g.38550365C= | CA1358561724 | SCN5A | c.6004G= (p.Asp2002=) c.6007G= (p.Asp2003=) c.5953G= (p.Asp1985=) c.5845G= (p.Asp1949=) c.5908G= (p.Asp1970=) c.5878G= (p.Asp1960=) c.5950G= (p.Asp1984=) | |
| 3 | g.38550365C>G | CA352139117 | SCN5A | c.6004G>C (p.Asp2002His) c.6007G>C (p.Asp2003His) c.5953G>C (p.Asp1985His) c.5845G>C (p.Asp1949His) c.5908G>C (p.Asp1970His) c.5878G>C (p.Asp1960His) c.5950G>C (p.Asp1984His) | gnomAD v4 |
| 3 | g.38550365C>T | CA065167 | SCN5A | c.6004G>A (p.Asp2002Asn) c.6007G>A (p.Asp2003Asn) c.5953G>A (p.Asp1985Asn) c.5845G>A (p.Asp1949Asn) c.5908G>A (p.Asp1970Asn) c.5878G>A (p.Asp1960Asn) c.5950G>A (p.Asp1984Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550366G>A | CA065162 | SCN5A | c.6003C>T (p.Ala2001=) c.6006C>T (p.Ala2002=) c.5952C>T (p.Ala1984=) c.5844C>T (p.Ala1948=) c.5907C>T (p.Ala1969=) c.5877C>T (p.Ala1959=) c.5949C>T (p.Ala1983=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550366G>C | CA433134166 | SCN5A | c.6003C>G (p.Ala2001=) c.6006C>G (p.Ala2002=) c.5952C>G (p.Ala1984=) c.5844C>G (p.Ala1948=) c.5907C>G (p.Ala1969=) c.5877C>G (p.Ala1959=) c.5949C>G (p.Ala1983=) | |
| 3 | g.38550366G= | CA1358561725 | SCN5A | c.6003C= (p.Ala2001=) c.6006C= (p.Ala2002=) c.5952C= (p.Ala1984=) c.5844C= (p.Ala1948=) c.5907C= (p.Ala1969=) c.5877C= (p.Ala1959=) c.5949C= (p.Ala1983=) | |
| 3 | g.38550366G>T | CA433134167 | SCN5A | c.6003C>A (p.Ala2001=) c.6006C>A (p.Ala2002=) c.5952C>A (p.Ala1984=) c.5844C>A (p.Ala1948=) c.5907C>A (p.Ala1969=) c.5877C>A (p.Ala1959=) c.5949C>A (p.Ala1983=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38550366_38550367del | CA1047007147 | SCN5A | c.6002_6003del (p.Ala2001GlyfsTer11) c.6005_6006del (p.Ala2002GlyfsTer11) c.5951_5952del (p.Ala1984GlyfsTer11) c.5843_5844del (p.Ala1948GlyfsTer11) c.5906_5907del (p.Ala1969GlyfsTer11) c.5876_5877del (p.Ala1959GlyfsTer11) c.5948_5949del (p.Ala1983GlyfsTer11) | gnomAD v3 gnomAD v4 |
| 3 | g.38550367G>A | CA352139121 | SCN5A | c.6002C>T (p.Ala2001Val) c.6005C>T (p.Ala2002Val) c.5951C>T (p.Ala1984Val) c.5843C>T (p.Ala1948Val) c.5906C>T (p.Ala1969Val) c.5876C>T (p.Ala1959Val) c.5948C>T (p.Ala1983Val) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550367G>C | CA352139122 | SCN5A | c.6002C>G (p.Ala2001Gly) c.6005C>G (p.Ala2002Gly) c.5951C>G (p.Ala1984Gly) c.5843C>G (p.Ala1948Gly) c.5906C>G (p.Ala1969Gly) c.5876C>G (p.Ala1959Gly) c.5948C>G (p.Ala1983Gly) | |
| 3 | g.38550367G>T | CA352139124 | SCN5A | c.6002C>A (p.Ala2001Asp) c.6005C>A (p.Ala2002Asp) c.5951C>A (p.Ala1984Asp) c.5843C>A (p.Ala1948Asp) c.5906C>A (p.Ala1969Asp) c.5876C>A (p.Ala1959Asp) c.5948C>A (p.Ala1983Asp) | |
| 3 | g.38550368C>A | CA065157 | SCN5A | c.6001G>T (p.Ala2001Ser) c.6004G>T (p.Ala2002Ser) c.5950G>T (p.Ala1984Ser) c.5842G>T (p.Ala1948Ser) c.5905G>T (p.Ala1969Ser) c.5875G>T (p.Ala1959Ser) c.5947G>T (p.Ala1983Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550368C= | CA1358561726 | SCN5A | c.6001G= (p.Ala2001=) c.6004G= (p.Ala2002=) c.5950G= (p.Ala1984=) c.5842G= (p.Ala1948=) c.5905G= (p.Ala1969=) c.5875G= (p.Ala1959=) c.5947G= (p.Ala1983=) | |
| 3 | g.38550368C>G | CA352139125 | SCN5A | c.6001G>C (p.Ala2001Pro) c.6004G>C (p.Ala2002Pro) c.5950G>C (p.Ala1984Pro) c.5842G>C (p.Ala1948Pro) c.5905G>C (p.Ala1969Pro) c.5875G>C (p.Ala1959Pro) c.5947G>C (p.Ala1983Pro) | |
| 3 | g.38550368C>T | CA10576613 | SCN5A | c.6001G>A (p.Ala2001Thr) c.6004G>A (p.Ala2002Thr) c.5950G>A (p.Ala1984Thr) c.5842G>A (p.Ala1948Thr) c.5905G>A (p.Ala1969Thr) c.5875G>A (p.Ala1959Thr) c.5947G>A (p.Ala1983Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550369G>A | CA019574 | SCN5A | c.6000C>T (p.Leu2000=) c.6003C>T (p.Leu2001=) c.5949C>T (p.Leu1983=) c.5841C>T (p.Leu1947=) c.5904C>T (p.Leu1968=) c.5874C>T (p.Leu1958=) c.5946C>T (p.Leu1982=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550369G>C | CA433134173 | SCN5A | c.6000C>G (p.Leu2000=) c.6003C>G (p.Leu2001=) c.5949C>G (p.Leu1983=) c.5841C>G (p.Leu1947=) c.5904C>G (p.Leu1968=) c.5874C>G (p.Leu1958=) c.5946C>G (p.Leu1982=) | |
| 3 | g.38550369G= | CA1358561727 | SCN5A | c.6000C= (p.Leu2000=) c.6003C= (p.Leu2001=) c.5949C= (p.Leu1983=) c.5841C= (p.Leu1947=) c.5904C= (p.Leu1968=) c.5874C= (p.Leu1958=) c.5946C= (p.Leu1982=) | |
| 3 | g.38550369G>T | CA433134172 | SCN5A | c.6000C>A (p.Leu2000=) c.6003C>A (p.Leu2001=) c.5949C>A (p.Leu1983=) c.5841C>A (p.Leu1947=) c.5904C>A (p.Leu1968=) c.5874C>A (p.Leu1958=) c.5946C>A (p.Leu1982=) | |
| 3 | g.38550370A>C | CA352139129 | SCN5A | c.5999T>G (p.Leu2000Arg) c.6002T>G (p.Leu2001Arg) c.5948T>G (p.Leu1983Arg) c.5840T>G (p.Leu1947Arg) c.5903T>G (p.Leu1968Arg) c.5873T>G (p.Leu1958Arg) c.5945T>G (p.Leu1982Arg) | |
| 3 | g.38550370A>G | CA352139127 | SCN5A | c.5999T>C (p.Leu2000Pro) c.6002T>C (p.Leu2001Pro) c.5948T>C (p.Leu1983Pro) c.5840T>C (p.Leu1947Pro) c.5903T>C (p.Leu1968Pro) c.5873T>C (p.Leu1958Pro) c.5945T>C (p.Leu1982Pro) | gnomAD v4 |
| 3 | g.38550370A>T | CA352139131 | SCN5A | c.5999T>A (p.Leu2000His) c.6002T>A (p.Leu2001His) c.5948T>A (p.Leu1983His) c.5840T>A (p.Leu1947His) c.5903T>A (p.Leu1968His) c.5873T>A (p.Leu1958His) c.5945T>A (p.Leu1982His) | |
| 3 | g.38550371G>A | CA352139133 | SCN5A | c.5998C>T (p.Leu2000Phe) c.6001C>T (p.Leu2001Phe) c.5947C>T (p.Leu1983Phe) c.5839C>T (p.Leu1947Phe) c.5902C>T (p.Leu1968Phe) c.5872C>T (p.Leu1958Phe) c.5944C>T (p.Leu1982Phe) | gnomAD v4 |
| 3 | g.38550371G>C | CA352139135 | SCN5A | c.5998C>G (p.Leu2000Val) c.6001C>G (p.Leu2001Val) c.5947C>G (p.Leu1983Val) c.5839C>G (p.Leu1947Val) c.5902C>G (p.Leu1968Val) c.5872C>G (p.Leu1958Val) c.5944C>G (p.Leu1982Val) | |
| 3 | g.38550371G>T | CA352139137 | SCN5A | c.5998C>A (p.Leu2000Ile) c.6001C>A (p.Leu2001Ile) c.5947C>A (p.Leu1983Ile) c.5839C>A (p.Leu1947Ile) c.5902C>A (p.Leu1968Ile) c.5872C>A (p.Leu1958Ile) c.5944C>A (p.Leu1982Ile) | |
| 3 | g.38550372A= | CA1358561728 | SCN5A | c.5997T= (p.Asp1999=) c.6000T= (p.Asp2000=) c.5946T= (p.Asp1982=) c.5838T= (p.Asp1946=) c.5901T= (p.Asp1967=) c.5871T= (p.Asp1957=) c.5943T= (p.Asp1981=) | |
| 3 | g.38550372A>C | CA352139139 | SCN5A | c.5997T>G (p.Asp1999Glu) c.6000T>G (p.Asp2000Glu) c.5946T>G (p.Asp1982Glu) c.5838T>G (p.Asp1946Glu) c.5901T>G (p.Asp1967Glu) c.5871T>G (p.Asp1957Glu) c.5943T>G (p.Asp1981Glu) | |
| 3 | g.38550372A>G | CA065143 | SCN5A | c.5997T>C (p.Asp1999=) c.6000T>C (p.Asp2000=) c.5946T>C (p.Asp1982=) c.5838T>C (p.Asp1946=) c.5901T>C (p.Asp1967=) c.5871T>C (p.Asp1957=) c.5943T>C (p.Asp1981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550372A>T | CA352139142 | SCN5A | c.5997T>A (p.Asp1999Glu) c.6000T>A (p.Asp2000Glu) c.5946T>A (p.Asp1982Glu) c.5838T>A (p.Asp1946Glu) c.5901T>A (p.Asp1967Glu) c.5871T>A (p.Asp1957Glu) c.5943T>A (p.Asp1981Glu) | |
| 3 | g.38550373T>A | CA352139144 | SCN5A | c.5996A>T (p.Asp1999Val) c.5999A>T (p.Asp2000Val) c.5945A>T (p.Asp1982Val) c.5837A>T (p.Asp1946Val) c.5900A>T (p.Asp1967Val) c.5870A>T (p.Asp1957Val) c.5942A>T (p.Asp1981Val) | |
| 3 | g.38550373T>C | CA352139146 | SCN5A | c.5996A>G (p.Asp1999Gly) c.5999A>G (p.Asp2000Gly) c.5945A>G (p.Asp1982Gly) c.5837A>G (p.Asp1946Gly) c.5900A>G (p.Asp1967Gly) c.5870A>G (p.Asp1957Gly) c.5942A>G (p.Asp1981Gly) | |
| 3 | g.38550373T>G | CA352139148 | SCN5A | c.5996A>C (p.Asp1999Ala) c.5999A>C (p.Asp2000Ala) c.5945A>C (p.Asp1982Ala) c.5837A>C (p.Asp1946Ala) c.5900A>C (p.Asp1967Ala) c.5870A>C (p.Asp1957Ala) c.5942A>C (p.Asp1981Ala) | |
| 3 | g.38550374C>A | CA065124 | SCN5A | c.5995G>T (p.Asp1999Tyr) c.5998G>T (p.Asp2000Tyr) c.5944G>T (p.Asp1982Tyr) c.5836G>T (p.Asp1946Tyr) c.5899G>T (p.Asp1967Tyr) c.5869G>T (p.Asp1957Tyr) c.5941G>T (p.Asp1981Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550374C= | CA1358561729 | SCN5A | c.5995G= (p.Asp1999=) c.5998G= (p.Asp2000=) c.5944G= (p.Asp1982=) c.5836G= (p.Asp1946=) c.5899G= (p.Asp1967=) c.5869G= (p.Asp1957=) c.5941G= (p.Asp1981=) | |
| 3 | g.38550374C>G | CA72937652 | SCN5A | c.5995G>C (p.Asp1999His) c.5998G>C (p.Asp2000His) c.5944G>C (p.Asp1982His) c.5836G>C (p.Asp1946His) c.5899G>C (p.Asp1967His) c.5869G>C (p.Asp1957His) c.5941G>C (p.Asp1981His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550374C>T | CA352139151 | SCN5A | c.5995G>A (p.Asp1999Asn) c.5998G>A (p.Asp2000Asn) c.5944G>A (p.Asp1982Asn) c.5836G>A (p.Asp1946Asn) c.5899G>A (p.Asp1967Asn) c.5869G>A (p.Asp1957Asn) c.5941G>A (p.Asp1981Asn) |