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.24476913T>A | CA402082911 | HRH4 | c.524T>A (p.Leu175His) c.260T>A (p.Leu87His) c.*156T>A (n.*156T>A) c.357+7962T>A (n.357+7962T>A) | |
| 18 | g.24476913T>C | CA402082912 | HRH4 | c.524T>C (p.Leu175Pro) c.260T>C (p.Leu87Pro) c.*156T>C (n.*156T>C) c.357+7962T>C (n.357+7962T>C) | |
| 18 | g.24476913T>G | CA402082913 | HRH4 | c.524T>G (p.Leu175Arg) c.260T>G (p.Leu87Arg) c.*156T>G (n.*156T>G) c.357+7962T>G (n.357+7962T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.24476913T= | CA2290577614 | HRH4 | c.524T= (p.Leu175=) c.260T= (p.Leu87=) c.*156T= (n.*156T=) c.357+7962T= (n.357+7962T=) | |
| 18 | g.24476913_24476915dup | CA2811837915 | HRH4 | c.524_526dup (p.Leu175_Ala176insVal) c.260_262dup (p.Leu87_Ala88insVal) c.*156_*158dup (n.*156_*158dup) c.357+7962_357+7964dup (n.357+7962_357+7964dup) | |
| 18 | g.24476914T>A | CA503523517 | HRH4 | c.525T>A (p.Leu175=) c.261T>A (p.Leu87=) c.*157T>A (n.*157T>A) c.357+7963T>A (n.357+7963T>A) | |
| 18 | g.24476914T>C | CA503523518 | HRH4 | c.525T>C (p.Leu175=) c.261T>C (p.Leu87=) c.*157T>C (n.*157T>C) c.357+7963T>C (n.357+7963T>C) | |
| 18 | g.24476914T>G | CA503523519 | HRH4 | c.525T>G (p.Leu175=) c.261T>G (p.Leu87=) c.*157T>G (n.*157T>G) c.357+7963T>G (n.357+7963T>G) | |
| 18 | g.24476915G>A | CA402082914 | HRH4 | c.526G>A (p.Ala176Thr) c.262G>A (p.Ala88Thr) c.*158G>A (n.*158G>A) c.357+7964G>A (n.357+7964G>A) | |
| 18 | g.24476915G>C | CA402082915 | HRH4 | c.526G>C (p.Ala176Pro) c.262G>C (p.Ala88Pro) c.*158G>C (n.*158G>C) c.357+7964G>C (n.357+7964G>C) | |
| 18 | g.24476915G>T | CA402082916 | HRH4 | c.526G>T (p.Ala176Ser) c.262G>T (p.Ala88Ser) c.*158G>T (n.*158G>T) c.357+7964G>T (n.357+7964G>T) | |
| 18 | g.24476916C>A | CA402082917 | HRH4 | c.527C>A (p.Ala176Asp) c.263C>A (p.Ala88Asp) c.*159C>A (n.*159C>A) c.357+7965C>A (n.357+7965C>A) | |
| 18 | g.24476916C= | CA2290577615 | HRH4 | c.527C= (p.Ala176=) c.263C= (p.Ala88=) c.*159C= (n.*159C=) c.357+7965C= (n.357+7965C=) | |
| 18 | g.24476916C>G | CA402082918 | HRH4 | c.527C>G (p.Ala176Gly) c.263C>G (p.Ala88Gly) c.*159C>G (n.*159C>G) c.357+7965C>G (n.357+7965C>G) | COSMIC |
| 18 | g.24476916C>T | CA297155893 | HRH4 | c.527C>T (p.Ala176Val) c.263C>T (p.Ala88Val) c.*159C>T (n.*159C>T) c.357+7965C>T (n.357+7965C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24476917C>A | CA503523522 | HRH4 | c.528C>A (p.Ala176=) c.264C>A (p.Ala88=) c.*160C>A (n.*160C>A) c.357+7966C>A (n.357+7966C>A) | |
| 18 | g.24476917C>G | CA503523520 | HRH4 | c.528C>G (p.Ala176=) c.264C>G (p.Ala88=) c.*160C>G (n.*160C>G) c.357+7966C>G (n.357+7966C>G) | |
| 18 | g.24476917C>T | CA503523521 | HRH4 | c.528C>T (p.Ala176=) c.264C>T (p.Ala88=) c.*160C>T (n.*160C>T) c.357+7966C>T (n.357+7966C>T) | |
| 18 | g.24476918A>C | CA402082919 | HRH4 | c.529A>C (p.Ile177Leu) c.265A>C (p.Ile89Leu) c.*161A>C (n.*161A>C) c.357+7967A>C (n.357+7967A>C) | |
| 18 | g.24476918A>G | CA402082920 | HRH4 | c.529A>G (p.Ile177Val) c.265A>G (p.Ile89Val) c.*161A>G (n.*161A>G) c.357+7967A>G (n.357+7967A>G) | |
| 18 | g.24476918A>T | CA402082921 | HRH4 | c.529A>T (p.Ile177Phe) c.265A>T (p.Ile89Phe) c.*161A>T (n.*161A>T) c.357+7967A>T (n.357+7967A>T) | |
| 18 | g.24476919T>A | CA402082922 | HRH4 | c.530T>A (p.Ile177Asn) c.266T>A (p.Ile89Asn) c.*162T>A (n.*162T>A) c.357+7968T>A (n.357+7968T>A) | |
| 18 | g.24476919T>C | CA402082923 | HRH4 | c.530T>C (p.Ile177Thr) c.266T>C (p.Ile89Thr) c.*162T>C (n.*162T>C) c.357+7968T>C (n.357+7968T>C) | |
| 18 | g.24476919T>G | CA402082924 | HRH4 | c.530T>G (p.Ile177Ser) c.266T>G (p.Ile89Ser) c.*162T>G (n.*162T>G) c.357+7968T>G (n.357+7968T>G) | |
| 18 | g.24476920C>A | CA503523524 | HRH4 | c.531C>A (p.Ile177=) c.267C>A (p.Ile89=) c.*163C>A (n.*163C>A) c.357+7969C>A (n.357+7969C>A) | |
| 18 | g.24476920C>G | CA402082925 | HRH4 | c.531C>G (p.Ile177Met) c.267C>G (p.Ile89Met) c.*163C>G (n.*163C>G) c.357+7969C>G (n.357+7969C>G) | |
| 18 | g.24476920C>T | CA503523525 | HRH4 | c.531C>T (p.Ile177=) c.267C>T (p.Ile89=) c.*163C>T (n.*163C>T) c.357+7969C>T (n.357+7969C>T) | COSMIC |
| 18 | g.24476921A= | CA2290577616 | HRH4 | c.532A= (p.Thr178=) c.268A= (p.Thr90=) c.*164A= (n.*164A=) c.357+7970A= (n.357+7970A=) | |
| 18 | g.24476921A>C | CA402082926 | HRH4 | c.532A>C (p.Thr178Pro) c.268A>C (p.Thr90Pro) c.*164A>C (n.*164A>C) c.357+7970A>C (n.357+7970A>C) | |
| 18 | g.24476921A>G | CA402082927 | HRH4 | c.532A>G (p.Thr178Ala) c.268A>G (p.Thr90Ala) c.*164A>G (n.*164A>G) c.357+7970A>G (n.357+7970A>G) | dbSNP |
| 18 | g.24476921A>T | CA402082928 | HRH4 | c.532A>T (p.Thr178Ser) c.268A>T (p.Thr90Ser) c.*164A>T (n.*164A>T) c.357+7970A>T (n.357+7970A>T) | |
| 18 | g.24476922C>A | CA402082930 | HRH4 | c.533C>A (p.Thr178Lys) c.269C>A (p.Thr90Lys) c.*165C>A (n.*165C>A) c.357+7971C>A (n.357+7971C>A) | |
| 18 | g.24476922C= | CA2290577617 | HRH4 | c.533C= (p.Thr178=) c.269C= (p.Thr90=) c.*165C= (n.*165C=) c.357+7971C= (n.357+7971C=) | |
| 18 | g.24476922C>G | CA402082929 | HRH4 | c.533C>G (p.Thr178Arg) c.269C>G (p.Thr90Arg) c.*165C>G (n.*165C>G) c.357+7971C>G (n.357+7971C>G) | |
| 18 | g.24476922C>T | CA8919826 | HRH4 | c.533C>T (p.Thr178Ile) c.269C>T (p.Thr90Ile) c.*165C>T (n.*165C>T) c.357+7971C>T (n.357+7971C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24476923A= | CA2290577618 | HRH4 | c.534A= (p.Thr178=) c.270A= (p.Thr90=) c.*166A= (n.*166A=) c.357+7972A= (n.357+7972A=) | |
| 18 | g.24476923A>C | CA503523527 | HRH4 | c.534A>C (p.Thr178=) c.270A>C (p.Thr90=) c.*166A>C (n.*166A>C) c.357+7972A>C (n.357+7972A>C) | |
| 18 | g.24476923A>G | CA8919827 | HRH4 | c.534A>G (p.Thr178=) c.270A>G (p.Thr90=) c.*166A>G (n.*166A>G) c.357+7972A>G (n.357+7972A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.24476923A>T | CA503523528 | HRH4 | c.534A>T (p.Thr178=) c.270A>T (p.Thr90=) c.*166A>T (n.*166A>T) c.357+7972A>T (n.357+7972A>T) | |
| 18 | g.24476924T>A | CA402082931 | HRH4 | c.535T>A (p.Ser179Thr) c.271T>A (p.Ser91Thr) c.*167T>A (n.*167T>A) c.357+7973T>A (n.357+7973T>A) | |
| 18 | g.24476924T>C | CA402082932 | HRH4 | c.535T>C (p.Ser179Pro) c.271T>C (p.Ser91Pro) c.*167T>C (n.*167T>C) c.357+7973T>C (n.357+7973T>C) | |
| 18 | g.24476924T>G | CA402082933 | HRH4 | c.535T>G (p.Ser179Ala) c.271T>G (p.Ser91Ala) c.*167T>G (n.*167T>G) c.357+7973T>G (n.357+7973T>G) | |
| 18 | g.24476925C>A | CA402082934 | HRH4 | c.536C>A (p.Ser179Ter) c.272C>A (p.Ser91Ter) c.*168C>A (n.*168C>A) c.357+7974C>A (n.357+7974C>A) | |
| 18 | g.24476925C>G | CA402082935 | HRH4 | c.536C>G (p.Ser179Ter) c.272C>G (p.Ser91Ter) c.*168C>G (n.*168C>G) c.357+7974C>G (n.357+7974C>G) | |
| 18 | g.24476925C>T | CA402082936 | HRH4 | c.536C>T (p.Ser179Leu) c.272C>T (p.Ser91Leu) c.*168C>T (n.*168C>T) c.357+7974C>T (n.357+7974C>T) | |
| 18 | g.24476926A= | CA2290577619 | HRH4 | c.537A= (p.Ser179=) c.273A= (p.Ser91=) c.*169A= (n.*169A=) c.357+7975A= (n.357+7975A=) | |
| 18 | g.24476926A>C | CA503523529 | HRH4 | c.537A>C (p.Ser179=) c.273A>C (p.Ser91=) c.*169A>C (n.*169A>C) c.357+7975A>C (n.357+7975A>C) | |
| 18 | g.24476926A>G | CA503523530 | HRH4 | c.537A>G (p.Ser179=) c.273A>G (p.Ser91=) c.*169A>G (n.*169A>G) c.357+7975A>G (n.357+7975A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.24476926A>T | CA503523531 | HRH4 | c.537A>T (p.Ser179=) c.273A>T (p.Ser91=) c.*169A>T (n.*169A>T) c.357+7975A>T (n.357+7975A>T) | |
| 18 | g.24476927T>A | CA402082937 | HRH4 | c.538T>A (p.Phe180Ile) c.274T>A (p.Phe92Ile) c.*170T>A (n.*170T>A) c.357+7976T>A (n.357+7976T>A) |