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 |
|---|---|---|---|---|---|
| 18 | g.24477013_24477015dup | CA2576475330 | HRH4 | c.624_626dup (p.Ser208_Arg209insSer) c.360_362dup (p.Ser120_Arg121insSer) c.*256_*258dup (n.*256_*258dup) c.357+8062_357+8064dup (n.357+8062_357+8064dup) | gnomAD v4 |
| 18 | g.24477013T>A | CA402083131 | HRH4 | c.624T>A (p.Ser208Arg) c.360T>A (p.Ser120Arg) c.*256T>A (n.*256T>A) c.357+8062T>A (n.357+8062T>A) | |
| 18 | g.24477013T>C | CA503523581 | HRH4 | c.624T>C (p.Ser208=) c.360T>C (p.Ser120=) c.*256T>C (n.*256T>C) c.357+8062T>C (n.357+8062T>C) | gnomAD v4 |
| 18 | g.24477013T>G | CA402083132 | HRH4 | c.624T>G (p.Ser208Arg) c.360T>G (p.Ser120Arg) c.*256T>G (n.*256T>G) c.357+8062T>G (n.357+8062T>G) | |
| 18 | g.24477014A>C | CA503523562 | HRH4 | c.625A>C (p.Arg209=) c.361A>C (p.Arg121=) c.*257A>C (n.*257A>C) c.357+8063A>C (n.357+8063A>C) | |
| 18 | g.24477014A>G | CA402083133 | HRH4 | c.625A>G (p.Arg209Gly) c.361A>G (p.Arg121Gly) c.*257A>G (n.*257A>G) c.357+8063A>G (n.357+8063A>G) | |
| 18 | g.24477014A>T | CA402083134 | HRH4 | c.625A>T (p.Arg209Trp) c.361A>T (p.Arg121Trp) c.*257A>T (n.*257A>T) c.357+8063A>T (n.357+8063A>T) | |
| 18 | g.24477015G>A | CA402083135 | HRH4 | c.626G>A (p.Arg209Lys) c.362G>A (p.Arg121Lys) c.*258G>A (n.*258G>A) c.357+8064G>A (n.357+8064G>A) | |
| 18 | g.24477015G>C | CA402083136 | HRH4 | c.626G>C (p.Arg209Thr) c.362G>C (p.Arg121Thr) c.*258G>C (n.*258G>C) c.357+8064G>C (n.357+8064G>C) | |
| 18 | g.24477015G>T | CA402083137 | HRH4 | c.626G>T (p.Arg209Met) c.362G>T (p.Arg121Met) c.*258G>T (n.*258G>T) c.357+8064G>T (n.357+8064G>T) | |
| 18 | g.24477016G>A | CA503523563 | HRH4 | c.627G>A (p.Arg209=) c.363G>A (p.Arg121=) c.*259G>A (n.*259G>A) c.357+8065G>A (n.357+8065G>A) | dbSNP |
| 18 | g.24477016G>C | CA402083138 | HRH4 | c.627G>C (p.Arg209Ser) c.363G>C (p.Arg121Ser) c.*259G>C (n.*259G>C) c.357+8065G>C (n.357+8065G>C) | gnomAD v4 |
| 18 | g.24477016G= | CA2290577656 | HRH4 | c.627G= (p.Arg209=) c.363G= (p.Arg121=) c.*259G= (n.*259G=) c.357+8065G= (n.357+8065G=) | |
| 18 | g.24477016G>T | CA402083139 | HRH4 | c.627G>T (p.Arg209Ser) c.363G>T (p.Arg121Ser) c.*259G>T (n.*259G>T) c.357+8065G>T (n.357+8065G>T) | |
| 18 | g.24477017T>A | CA402083140 | HRH4 | c.628T>A (p.Cys210Ser) c.364T>A (p.Cys122Ser) c.*260T>A (n.*260T>A) c.357+8066T>A (n.357+8066T>A) | |
| 18 | g.24477017T>C | CA402083141 | HRH4 | c.628T>C (p.Cys210Arg) c.364T>C (p.Cys122Arg) c.*260T>C (n.*260T>C) c.357+8066T>C (n.357+8066T>C) | dbSNP |
| 18 | g.24477017T>G | CA402083142 | HRH4 | c.628T>G (p.Cys210Gly) c.364T>G (p.Cys122Gly) c.*260T>G (n.*260T>G) c.357+8066T>G (n.357+8066T>G) | |
| 18 | g.24477017T= | CA2290577657 | HRH4 | c.628T= (p.Cys210=) c.364T= (p.Cys122=) c.*260T= (n.*260T=) c.357+8066T= (n.357+8066T=) | |
| 18 | g.24477018G>A | CA402083143 | HRH4 | c.629G>A (p.Cys210Tyr) c.365G>A (p.Cys122Tyr) c.*261G>A (n.*261G>A) c.357+8067G>A (n.357+8067G>A) | |
| 18 | g.24477018G>C | CA402083145 | HRH4 | c.629G>C (p.Cys210Ser) c.365G>C (p.Cys122Ser) c.*261G>C (n.*261G>C) c.357+8067G>C (n.357+8067G>C) | |
| 18 | g.24477018G>T | CA402083144 | HRH4 | c.629G>T (p.Cys210Phe) c.365G>T (p.Cys122Phe) c.*261G>T (n.*261G>T) c.357+8067G>T (n.357+8067G>T) | |
| 18 | g.24477019C>A | CA402083146 | HRH4 | c.630C>A (p.Cys210Ter) c.366C>A (p.Cys122Ter) c.*262C>A (n.*262C>A) c.357+8068C>A (n.357+8068C>A) | |
| 18 | g.24477019C>G | CA402083147 | HRH4 | c.630C>G (p.Cys210Trp) c.366C>G (p.Cys122Trp) c.*262C>G (n.*262C>G) c.357+8068C>G (n.357+8068C>G) | |
| 18 | g.24477019C>T | CA503523565 | HRH4 | c.630C>T (p.Cys210=) c.366C>T (p.Cys122=) c.*262C>T (n.*262C>T) c.357+8068C>T (n.357+8068C>T) | COSMIC |
| 18 | g.24477020C>A | CA402083148 | HRH4 | c.631C>A (p.Gln211Lys) c.367C>A (p.Gln123Lys) c.*263C>A (n.*263C>A) c.357+8069C>A (n.357+8069C>A) | |
| 18 | g.24477020C>G | CA402083149 | HRH4 | c.631C>G (p.Gln211Glu) c.367C>G (p.Gln123Glu) c.*263C>G (n.*263C>G) c.357+8069C>G (n.357+8069C>G) | |
| 18 | g.24477020C>T | CA402083150 | HRH4 | c.631C>T (p.Gln211Ter) c.367C>T (p.Gln123Ter) c.*263C>T (n.*263C>T) c.357+8069C>T (n.357+8069C>T) | |
| 18 | g.24477021A>C | CA402083151 | HRH4 | c.632A>C (p.Gln211Pro) c.368A>C (p.Gln123Pro) c.*264A>C (n.*264A>C) c.357+8070A>C (n.357+8070A>C) | |
| 18 | g.24477021A>G | CA402083152 | HRH4 | c.632A>G (p.Gln211Arg) c.368A>G (p.Gln123Arg) c.*264A>G (n.*264A>G) c.357+8070A>G (n.357+8070A>G) | gnomAD v4 |
| 18 | g.24477021A>T | CA402083153 | HRH4 | c.632A>T (p.Gln211Leu) c.368A>T (p.Gln123Leu) c.*264A>T (n.*264A>T) c.357+8070A>T (n.357+8070A>T) | |
| 18 | g.24477022A>C | CA402083154 | HRH4 | c.633A>C (p.Gln211His) c.369A>C (p.Gln123His) c.*265A>C (n.*265A>C) c.357+8071A>C (n.357+8071A>C) | |
| 18 | g.24477022A>G | CA503523568 | HRH4 | c.633A>G (p.Gln211=) c.369A>G (p.Gln123=) c.*265A>G (n.*265A>G) c.357+8071A>G (n.357+8071A>G) | |
| 18 | g.24477022A>T | CA402083155 | HRH4 | c.633A>T (p.Gln211His) c.369A>T (p.Gln123His) c.*265A>T (n.*265A>T) c.357+8071A>T (n.357+8071A>T) | |
| 18 | g.24477023A>C | CA402083157 | HRH4 | c.634A>C (p.Ser212Arg) c.370A>C (p.Ser124Arg) c.*266A>C (n.*266A>C) c.357+8072A>C (n.357+8072A>C) | |
| 18 | g.24477023A>G | CA402083158 | HRH4 | c.634A>G (p.Ser212Gly) c.370A>G (p.Ser124Gly) c.*266A>G (n.*266A>G) c.357+8072A>G (n.357+8072A>G) | |
| 18 | g.24477023A>T | CA402083156 | HRH4 | c.634A>T (p.Ser212Cys) c.370A>T (p.Ser124Cys) c.*266A>T (n.*266A>T) c.357+8072A>T (n.357+8072A>T) | |
| 18 | g.24477024G>A | CA402083159 | HRH4 | c.635G>A (p.Ser212Asn) c.371G>A (p.Ser124Asn) c.*267G>A (n.*267G>A) c.357+8073G>A (n.357+8073G>A) | |
| 18 | g.24477024G>C | CA402083160 | HRH4 | c.635G>C (p.Ser212Thr) c.371G>C (p.Ser124Thr) c.*267G>C (n.*267G>C) c.357+8073G>C (n.357+8073G>C) | gnomAD v4 |
| 18 | g.24477024G>T | CA402083161 | HRH4 | c.635G>T (p.Ser212Ile) c.371G>T (p.Ser124Ile) c.*267G>T (n.*267G>T) c.357+8073G>T (n.357+8073G>T) | |
| 18 | g.24477025C>A | CA402083162 | HRH4 | c.636C>A (p.Ser212Arg) c.372C>A (p.Ser124Arg) c.*268C>A (n.*268C>A) c.357+8074C>A (n.357+8074C>A) | |
| 18 | g.24477025C>G | CA402083163 | HRH4 | c.636C>G (p.Ser212Arg) c.372C>G (p.Ser124Arg) c.*268C>G (n.*268C>G) c.357+8074C>G (n.357+8074C>G) | |
| 18 | g.24477025C>T | CA503523570 | HRH4 | c.636C>T (p.Ser212=) c.372C>T (p.Ser124=) c.*268C>T (n.*268C>T) c.357+8074C>T (n.357+8074C>T) | |
| 18 | g.24477026C>A | CA402083164 | HRH4 | c.637C>A (p.His213Asn) c.373C>A (p.His125Asn) c.*269C>A (n.*269C>A) c.357+8075C>A (n.357+8075C>A) | |
| 18 | g.24477026C>G | CA402083165 | HRH4 | c.637C>G (p.His213Asp) c.373C>G (p.His125Asp) c.*269C>G (n.*269C>G) c.357+8075C>G (n.357+8075C>G) | |
| 18 | g.24477026C>T | CA402083166 | HRH4 | c.637C>T (p.His213Tyr) c.373C>T (p.His125Tyr) c.*269C>T (n.*269C>T) c.357+8075C>T (n.357+8075C>T) | |
| 18 | g.24477027A= | CA2290577658 | HRH4 | c.638A= (p.His213=) c.374A= (p.His125=) c.*270A= (n.*270A=) c.357+8076A= (n.357+8076A=) | |
| 18 | g.24477027A>C | CA402083167 | HRH4 | c.638A>C (p.His213Pro) c.374A>C (p.His125Pro) c.*270A>C (n.*270A>C) c.357+8076A>C (n.357+8076A>C) | |
| 18 | g.24477027A>G | CA402083168 | HRH4 | c.638A>G (p.His213Arg) c.374A>G (p.His125Arg) c.*270A>G (n.*270A>G) c.357+8076A>G (n.357+8076A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477027A>T | CA402083169 | HRH4 | c.638A>T (p.His213Leu) c.374A>T (p.His125Leu) c.*270A>T (n.*270A>T) c.357+8076A>T (n.357+8076A>T) | |
| 18 | g.24477028T>A | CA402083170 | HRH4 | c.639T>A (p.His213Gln) c.375T>A (p.His125Gln) c.*271T>A (n.*271T>A) c.357+8077T>A (n.357+8077T>A) |