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 |
|---|---|---|---|---|---|
| 11 | g.17387462G>A | CA473515681 | KCNJ11 | c.369C>T (p.Ile123=) c.630C>T (p.Ile210=) n.788C>T | ClinVar dbSNP |
| 11 | g.17387462G>C | CA379771986 | KCNJ11 | c.369C>G (p.Ile123Met) c.630C>G (p.Ile210Met) n.788C>G | |
| 11 | g.17387462G= | CA1955119270 | KCNJ11 | c.369C= (p.Ile123=) c.630C= (p.Ile210=) n.788C= | |
| 11 | g.17387462G>T | CA473515682 | KCNJ11 | c.369C>A (p.Ile123=) c.630C>A (p.Ile210=) n.788C>A | |
| 11 | g.17387463A>C | CA379771993 | KCNJ11 | c.368T>G (p.Ile123Ser) c.629T>G (p.Ile210Ser) n.787T>G | |
| 11 | g.17387463A>G | CA379771990 | KCNJ11 | c.368T>C (p.Ile123Thr) c.629T>C (p.Ile210Thr) n.787T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387463A>T | CA379771992 | KCNJ11 | c.368T>A (p.Ile123Asn) c.629T>A (p.Ile210Asn) n.787T>A | |
| 11 | g.17387464T>A | CA379771995 | KCNJ11 | c.367A>T (p.Ile123Phe) c.628A>T (p.Ile210Phe) n.786A>T | |
| 11 | g.17387464T>C | CA379771997 | KCNJ11 | c.367A>G (p.Ile123Val) c.628A>G (p.Ile210Val) n.786A>G | |
| 11 | g.17387464T>G | CA379772001 | KCNJ11 | c.367A>C (p.Ile123Leu) c.628A>C (p.Ile210Leu) n.786A>C | |
| 11 | g.17387465C>A | CA379772005 | KCNJ11 | c.366G>T (p.Met122Ile) c.627G>T (p.Met209Ile) n.785G>T | |
| 11 | g.17387465C>G | CA379772008 | KCNJ11 | c.366G>C (p.Met122Ile) c.627G>C (p.Met209Ile) n.785G>C | |
| 11 | g.17387465C>T | CA379772014 | KCNJ11 | c.366G>A (p.Met122Ile) c.627G>A (p.Met209Ile) n.785G>A | gnomAD v4 |
| 11 | g.17387466A>C | CA379772020 | KCNJ11 | c.365T>G (p.Met122Arg) c.626T>G (p.Met209Arg) n.784T>G | |
| 11 | g.17387466A>G | CA379772023 | KCNJ11 | c.365T>C (p.Met122Thr) c.626T>C (p.Met209Thr) n.784T>C | |
| 11 | g.17387466A>T | CA379772028 | KCNJ11 | c.365T>A (p.Met122Lys) c.626T>A (p.Met209Lys) n.784T>A | |
| 11 | g.17387467T>A | CA379772049 | KCNJ11 | c.364A>T (p.Met122Leu) c.625A>T (p.Met209Leu) n.783A>T | |
| 11 | g.17387467T>C | CA379772045 | KCNJ11 | c.364A>G (p.Met122Val) c.625A>G (p.Met209Val) n.783A>G | ClinVar gnomAD v4 |
| 11 | g.17387467T>G | CA379772043 | KCNJ11 | c.364A>C (p.Met122Leu) c.625A>C (p.Met209Leu) n.783A>C | |
| 11 | g.17387468G>A | CA473515683 | KCNJ11 | c.363C>T (p.Ser121=) c.624C>T (p.Ser208=) n.782C>T | gnomAD v4 |
| 11 | g.17387468G>C | CA379772053 | KCNJ11 | c.363C>G (p.Ser121Arg) c.624C>G (p.Ser208Arg) n.782C>G | |
| 11 | g.17387468G>T | CA379772059 | KCNJ11 | c.363C>A (p.Ser121Arg) c.624C>A (p.Ser208Arg) n.782C>A | |
| 11 | g.17387469C>A | CA379772066 | KCNJ11 | c.362G>T (p.Ser121Ile) c.623G>T (p.Ser208Ile) n.781G>T | |
| 11 | g.17387469C>G | CA379772072 | KCNJ11 | c.362G>C (p.Ser121Thr) c.623G>C (p.Ser208Thr) n.781G>C | |
| 11 | g.17387469C>T | CA379772076 | KCNJ11 | c.362G>A (p.Ser121Asn) c.623G>A (p.Ser208Asn) n.781G>A | |
| 11 | g.17387470T>A | CA379772086 | KCNJ11 | c.361A>T (p.Ser121Cys) c.622A>T (p.Ser208Cys) n.780A>T | |
| 11 | g.17387470T>C | CA379772090 | KCNJ11 | c.361A>G (p.Ser121Gly) c.622A>G (p.Ser208Gly) n.780A>G | |
| 11 | g.17387470T>G | CA379772091 | KCNJ11 | c.361A>C (p.Ser121Arg) c.622A>C (p.Ser208Arg) n.780A>C | |
| 11 | g.17387471C>A | CA379772092 | KCNJ11 | c.360G>T (p.Lys120Asn) c.621G>T (p.Lys207Asn) n.779G>T | |
| 11 | g.17387471C= | CA1955119271 | KCNJ11 | c.360G= (p.Lys120=) c.621G= (p.Lys207=) n.779G= | |
| 11 | g.17387471C>G | CA379772093 | KCNJ11 | c.360G>C (p.Lys120Asn) c.621G>C (p.Lys207Asn) n.779G>C | dbSNP |
| 11 | g.17387471C>T | CA5902272 | KCNJ11 | c.360G>A (p.Lys120=) c.621G>A (p.Lys207=) n.779G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387472T>A | CA379772114 | KCNJ11 | c.359A>T (p.Lys120Met) c.620A>T (p.Lys207Met) n.778A>T | |
| 11 | g.17387472T>C | CA379772103 | KCNJ11 | c.359A>G (p.Lys120Arg) c.620A>G (p.Lys207Arg) n.778A>G | |
| 11 | g.17387472T>G | CA379772100 | KCNJ11 | c.359A>C (p.Lys120Thr) c.620A>C (p.Lys207Thr) n.778A>C | |
| 11 | g.17387473T>A | CA379772130 | KCNJ11 | c.358A>T (p.Lys120Ter) c.619A>T (p.Lys207Ter) n.777A>T | |
| 11 | g.17387473T>C | CA379772132 | KCNJ11 | c.358A>G (p.Lys120Glu) c.619A>G (p.Lys207Glu) n.777A>G | |
| 11 | g.17387473T>G | CA379772134 | KCNJ11 | c.358A>C (p.Lys120Gln) c.619A>C (p.Lys207Gln) n.777A>C | |
| 11 | g.17387474G>A | CA473515684 | KCNJ11 | c.357C>T (p.Arg119=) c.618C>T (p.Arg206=) n.776C>T | |
| 11 | g.17387474G>C | CA473515685 | KCNJ11 | c.357C>G (p.Arg119=) c.618C>G (p.Arg206=) n.776C>G | |
| 11 | g.17387474G>T | CA473515686 | KCNJ11 | c.357C>A (p.Arg119=) c.618C>A (p.Arg206=) n.776C>A | |
| 11 | g.17387475C>A | CA379772137 | KCNJ11 | c.356G>T (p.Arg119Leu) c.617G>T (p.Arg206Leu) n.775G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387475C= | CA1955119272 | KCNJ11 | c.356G= (p.Arg119=) c.617G= (p.Arg206=) n.775G= | |
| 11 | g.17387475C>G | CA379772140 | KCNJ11 | c.356G>C (p.Arg119Pro) c.617G>C (p.Arg206Pro) n.775G>C | |
| 11 | g.17387475C>T | CA379772144 | KCNJ11 | c.356G>A (p.Arg119His) c.617G>A (p.Arg206His) n.775G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.17387476G>A | CA5902273 | KCNJ11 | c.355C>T (p.Arg119Cys) c.616C>T (p.Arg206Cys) n.774C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387476G>C | CA379772150 | KCNJ11 | c.355C>G (p.Arg119Gly) c.616C>G (p.Arg206Gly) n.774C>G | |
| 11 | g.17387476G= | CA1955119273 | KCNJ11 | c.355C= (p.Arg119=) c.616C= (p.Arg206=) n.774C= | |
| 11 | g.17387476G>T | CA379772156 | KCNJ11 | c.355C>A (p.Arg119Ser) c.616C>A (p.Arg206Ser) n.774C>A | |
| 11 | g.17387477G>A | CA473515687 | KCNJ11 | c.354C>T (p.Leu118=) c.615C>T (p.Leu205=) n.773C>T | ClinVar dbSNP |