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 |
|---|---|---|---|---|---|
| 7 | g.44146484C>A | CA367399755 | GCK | c.*996G>T (n.*996G>T) c.*118G>T (n.*118G>T) n.224G>T c.1001G>T (p.Arg334Leu) c.998G>T (p.Arg333Leu) c.1061G>T (p.Arg354Leu) c.995G>T (p.Arg332Leu) c.947G>T (p.Arg316Leu) n.296G>T c.8+135G>T (n.8+135G>T) | gnomAD v4 |
| 7 | g.44146484C= | CA1703613463 | GCK | c.*996G= (n.*996G=) c.*118G= (n.*118G=) n.224G= c.1001G= (p.Arg334=) c.998G= (p.Arg333=) c.1061G= (p.Arg354=) c.995G= (p.Arg332=) c.947G= (p.Arg316=) n.296G= c.8+135G= (n.8+135G=) | |
| 7 | g.44146484C>G | CA367399757 | GCK | c.*996G>C (n.*996G>C) c.*118G>C (n.*118G>C) n.224G>C c.1001G>C (p.Arg334Pro) c.998G>C (p.Arg333Pro) c.1061G>C (p.Arg354Pro) c.995G>C (p.Arg332Pro) c.947G>C (p.Arg316Pro) n.296G>C c.8+135G>C (n.8+135G>C) | |
| 7 | g.44146484C>T | CA367399758 | GCK | c.*996G>A (n.*996G>A) c.*118G>A (n.*118G>A) n.224G>A c.1001G>A (p.Arg334His) c.998G>A (p.Arg333His) c.1061G>A (p.Arg354His) c.995G>A (p.Arg332His) c.947G>A (p.Arg316His) n.296G>A c.8+135G>A (n.8+135G>A) | dbSNP gnomAD v4 |
| 7 | g.44146485G>A | CA367399764 | GCK | c.*995C>T (n.*995C>T) c.*117C>T (n.*117C>T) n.223C>T c.1000C>T (p.Arg334Cys) c.997C>T (p.Arg333Cys) c.1060C>T (p.Arg354Cys) c.994C>T (p.Arg332Cys) c.946C>T (p.Arg316Cys) n.295C>T c.8+134C>T (n.8+134C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44146485G>C | CA367399760 | GCK | c.*995C>G (n.*995C>G) c.*117C>G (n.*117C>G) n.223C>G c.1000C>G (p.Arg334Gly) c.997C>G (p.Arg333Gly) c.1060C>G (p.Arg354Gly) c.994C>G (p.Arg332Gly) c.946C>G (p.Arg316Gly) n.295C>G c.8+134C>G (n.8+134C>G) | |
| 7 | g.44146485G= | CA1703613464 | GCK | c.*995C= (n.*995C=) c.*117C= (n.*117C=) n.223C= c.1000C= (p.Arg334=) c.997C= (p.Arg333=) c.1060C= (p.Arg354=) c.994C= (p.Arg332=) c.946C= (p.Arg316=) n.295C= c.8+134C= (n.8+134C=) | |
| 7 | g.44146485G>T | CA367399762 | GCK | c.*995C>A (n.*995C>A) c.*117C>A (n.*117C>A) n.223C>A c.1000C>A (p.Arg334Ser) c.997C>A (p.Arg333Ser) c.1060C>A (p.Arg354Ser) c.994C>A (p.Arg332Ser) c.946C>A (p.Arg316Ser) n.295C>A c.8+134C>A (n.8+134C>A) | gnomAD v4 |
| 7 | g.44146486C>A | CA454607755 | GCK | c.*994G>T (n.*994G>T) c.*116G>T (n.*116G>T) n.222G>T c.999G>T (p.Thr333=) c.996G>T (p.Thr332=) c.1059G>T (p.Thr353=) c.993G>T (p.Thr331=) c.945G>T (p.Thr315=) n.294G>T c.8+133G>T (n.8+133G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44146486C= | CA1703613465 | GCK | c.*994G= (n.*994G=) c.*116G= (n.*116G=) n.222G= c.999G= (p.Thr333=) c.996G= (p.Thr332=) c.1059G= (p.Thr353=) c.993G= (p.Thr331=) c.945G= (p.Thr315=) n.294G= c.8+133G= (n.8+133G=) | |
| 7 | g.44146486C>G | CA454607756 | GCK | c.*994G>C (n.*994G>C) c.*116G>C (n.*116G>C) n.222G>C c.999G>C (p.Thr333=) c.996G>C (p.Thr332=) c.1059G>C (p.Thr353=) c.993G>C (p.Thr331=) c.945G>C (p.Thr315=) n.294G>C c.8+133G>C (n.8+133G>C) | |
| 7 | g.44146486C>T | CA454607754 | GCK | c.*994G>A (n.*994G>A) c.*116G>A (n.*116G>A) n.222G>A c.999G>A (p.Thr333=) c.996G>A (p.Thr332=) c.1059G>A (p.Thr353=) c.993G>A (p.Thr331=) c.945G>A (p.Thr315=) n.294G>A c.8+133G>A (n.8+133G>A) | gnomAD v4 |
| 7 | g.44146487G>A | CA4239471 | GCK | c.*993C>T (n.*993C>T) c.*115C>T (n.*115C>T) n.221C>T c.998C>T (p.Thr333Met) c.995C>T (p.Thr332Met) c.1058C>T (p.Thr353Met) c.992C>T (p.Thr331Met) c.944C>T (p.Thr315Met) n.293C>T c.8+132C>T (n.8+132C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44146487G>C | CA367399765 | GCK | c.*993C>G (n.*993C>G) c.*115C>G (n.*115C>G) n.221C>G c.998C>G (p.Thr333Arg) c.995C>G (p.Thr332Arg) c.1058C>G (p.Thr353Arg) c.992C>G (p.Thr331Arg) c.944C>G (p.Thr315Arg) n.293C>G c.8+132C>G (n.8+132C>G) | ClinVar dbSNP |
| 7 | g.44146487G= | CA1703613466 | GCK | c.*993C= (n.*993C=) c.*115C= (n.*115C=) n.221C= c.998C= (p.Thr333=) c.995C= (p.Thr332=) c.1058C= (p.Thr353=) c.992C= (p.Thr331=) c.944C= (p.Thr315=) n.293C= c.8+132C= (n.8+132C=) | |
| 7 | g.44146487G>T | CA367399767 | GCK | c.*993C>A (n.*993C>A) c.*115C>A (n.*115C>A) n.221C>A c.998C>A (p.Thr333Lys) c.995C>A (p.Thr332Lys) c.1058C>A (p.Thr353Lys) c.992C>A (p.Thr331Lys) c.944C>A (p.Thr315Lys) n.293C>A c.8+132C>A (n.8+132C>A) | gnomAD v4 |
| 7 | g.44146488T>A | CA367399768 | GCK | c.*992A>T (n.*992A>T) c.*114A>T (n.*114A>T) n.220A>T c.997A>T (p.Thr333Ser) c.994A>T (p.Thr332Ser) c.1057A>T (p.Thr353Ser) c.991A>T (p.Thr331Ser) c.943A>T (p.Thr315Ser) n.292A>T c.8+131A>T (n.8+131A>T) | |
| 7 | g.44146488T>C | CA367399770 | GCK | c.*992A>G (n.*992A>G) c.*114A>G (n.*114A>G) n.220A>G c.997A>G (p.Thr333Ala) c.994A>G (p.Thr332Ala) c.1057A>G (p.Thr353Ala) c.991A>G (p.Thr331Ala) c.943A>G (p.Thr315Ala) n.292A>G c.8+131A>G (n.8+131A>G) | |
| 7 | g.44146488T>G | CA367399771 | GCK | c.*992A>C (n.*992A>C) c.*114A>C (n.*114A>C) n.220A>C c.997A>C (p.Thr333Pro) c.994A>C (p.Thr332Pro) c.1057A>C (p.Thr353Pro) c.991A>C (p.Thr331Pro) c.943A>C (p.Thr315Pro) n.292A>C c.8+131A>C (n.8+131A>C) | |
| 7 | g.44146489C>A | CA367399773 | GCK | c.*991G>T (n.*991G>T) c.*113G>T (n.*113G>T) n.219G>T c.996G>T (p.Glu332Asp) c.993G>T (p.Glu331Asp) c.1056G>T (p.Glu352Asp) c.990G>T (p.Glu330Asp) c.942G>T (p.Glu314Asp) n.291G>T c.8+130G>T (n.8+130G>T) | |
| 7 | g.44146489C>G | CA367399774 | GCK | c.*991G>C (n.*991G>C) c.*113G>C (n.*113G>C) n.219G>C c.996G>C (p.Glu332Asp) c.993G>C (p.Glu331Asp) c.1056G>C (p.Glu352Asp) c.990G>C (p.Glu330Asp) c.942G>C (p.Glu314Asp) n.291G>C c.8+130G>C (n.8+130G>C) | |
| 7 | g.44146489C>T | CA454607758 | GCK | c.*991G>A (n.*991G>A) c.*113G>A (n.*113G>A) n.219G>A c.996G>A (p.Glu332=) c.993G>A (p.Glu331=) c.1056G>A (p.Glu352=) c.990G>A (p.Glu330=) c.942G>A (p.Glu314=) n.291G>A c.8+130G>A (n.8+130G>A) | |
| 7 | g.44146490T>A | CA367399776 | GCK | c.*990A>T (n.*990A>T) c.*112A>T (n.*112A>T) n.218A>T c.995A>T (p.Glu332Val) c.992A>T (p.Glu331Val) c.1055A>T (p.Glu352Val) c.989A>T (p.Glu330Val) c.941A>T (p.Glu314Val) n.290A>T c.8+129A>T (n.8+129A>T) | |
| 7 | g.44146490T>C | CA367399778 | GCK | c.*990A>G (n.*990A>G) c.*112A>G (n.*112A>G) n.218A>G c.995A>G (p.Glu332Gly) c.992A>G (p.Glu331Gly) c.1055A>G (p.Glu352Gly) c.989A>G (p.Glu330Gly) c.941A>G (p.Glu314Gly) n.290A>G c.8+129A>G (n.8+129A>G) | |
| 7 | g.44146490T>G | CA367399780 | GCK | c.*990A>C (n.*990A>C) c.*112A>C (n.*112A>C) n.218A>C c.995A>C (p.Glu332Ala) c.992A>C (p.Glu331Ala) c.1055A>C (p.Glu352Ala) c.989A>C (p.Glu330Ala) c.941A>C (p.Glu314Ala) n.290A>C c.8+129A>C (n.8+129A>C) | |
| 7 | g.44146491C>A | CA367399781 | GCK | c.*989G>T (n.*989G>T) c.*111G>T (n.*111G>T) n.217G>T c.994G>T (p.Glu332Ter) c.991G>T (p.Glu331Ter) c.1054G>T (p.Glu352Ter) c.988G>T (p.Glu330Ter) c.940G>T (p.Glu314Ter) n.289G>T c.8+128G>T (n.8+128G>T) | gnomAD v4 |
| 7 | g.44146491C>G | CA367399784 | GCK | c.*989G>C (n.*989G>C) c.*111G>C (n.*111G>C) n.217G>C c.994G>C (p.Glu332Gln) c.991G>C (p.Glu331Gln) c.1054G>C (p.Glu352Gln) c.988G>C (p.Glu330Gln) c.940G>C (p.Glu314Gln) n.289G>C c.8+128G>C (n.8+128G>C) | |
| 7 | g.44146491C>T | CA367399782 | GCK | c.*989G>A (n.*989G>A) c.*111G>A (n.*111G>A) n.217G>A c.994G>A (p.Glu332Lys) c.991G>A (p.Glu331Lys) c.1054G>A (p.Glu352Lys) c.988G>A (p.Glu330Lys) c.940G>A (p.Glu314Lys) n.289G>A c.8+128G>A (n.8+128G>A) | gnomAD v4 |
| 7 | g.44146492G>A | CA4239472 | GCK | c.*988C>T (n.*988C>T) c.*110C>T (n.*110C>T) n.216C>T c.993C>T (p.Phe331=) c.990C>T (p.Phe330=) c.1053C>T (p.Phe351=) c.987C>T (p.Phe329=) c.939C>T (p.Phe313=) n.288C>T c.8+127C>T (n.8+127C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44146492G>C | CA367399788 | GCK | c.*988C>G (n.*988C>G) c.*110C>G (n.*110C>G) n.216C>G c.993C>G (p.Phe331Leu) c.990C>G (p.Phe330Leu) c.1053C>G (p.Phe351Leu) c.987C>G (p.Phe329Leu) c.939C>G (p.Phe313Leu) n.288C>G c.8+127C>G (n.8+127C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44146492G= | CA1703613467 | GCK | c.*988C= (n.*988C=) c.*110C= (n.*110C=) n.216C= c.993C= (p.Phe331=) c.990C= (p.Phe330=) c.1053C= (p.Phe351=) c.987C= (p.Phe329=) c.939C= (p.Phe313=) n.288C= c.8+127C= (n.8+127C=) | |
| 7 | g.44146492G>T | CA367399786 | GCK | c.*988C>A (n.*988C>A) c.*110C>A (n.*110C>A) n.216C>A c.993C>A (p.Phe331Leu) c.990C>A (p.Phe330Leu) c.1053C>A (p.Phe351Leu) c.987C>A (p.Phe329Leu) c.939C>A (p.Phe313Leu) n.288C>A c.8+127C>A (n.8+127C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44146493A= | CA1703613468 | GCK | c.*987T= (n.*987T=) c.*109T= (n.*109T=) n.215T= c.992T= (p.Phe331=) c.989T= (p.Phe330=) c.1052T= (p.Phe351=) c.986T= (p.Phe329=) c.938T= (p.Phe313=) n.287T= c.8+126T= (n.8+126T=) | |
| 7 | g.44146493A>C | CA367399789 | GCK | c.*987T>G (n.*987T>G) c.*109T>G (n.*109T>G) n.215T>G c.992T>G (p.Phe331Cys) c.989T>G (p.Phe330Cys) c.1052T>G (p.Phe351Cys) c.986T>G (p.Phe329Cys) c.938T>G (p.Phe313Cys) n.287T>G c.8+126T>G (n.8+126T>G) | |
| 7 | g.44146493A>G | CA367399791 | GCK | c.*987T>C (n.*987T>C) c.*109T>C (n.*109T>C) n.215T>C c.992T>C (p.Phe331Ser) c.989T>C (p.Phe330Ser) c.1052T>C (p.Phe351Ser) c.986T>C (p.Phe329Ser) c.938T>C (p.Phe313Ser) n.287T>C c.8+126T>C (n.8+126T>C) | ClinVar dbSNP |
| 7 | g.44146493A>T | CA367399793 | GCK | c.*987T>A (n.*987T>A) c.*109T>A (n.*109T>A) n.215T>A c.992T>A (p.Phe331Tyr) c.989T>A (p.Phe330Tyr) c.1052T>A (p.Phe351Tyr) c.986T>A (p.Phe329Tyr) c.938T>A (p.Phe313Tyr) n.287T>A c.8+126T>A (n.8+126T>A) | COSMIC COSMIC |
| 7 | g.44146494_44146511del | CA2695203062 | GCK | c.*970_*987del (n.*970_*987del) c.*92_*109del (n.*92_*109del) n.198_215del c.975_992del (p.Arg326_Phe331del) c.972_989del (p.Arg325_Phe330del) c.1035_1052del (p.Arg346_Phe351del) c.969_986del (p.Arg324_Phe329del) c.921_938del (p.Arg308_Phe313del) n.270_287del c.8+109_8+126del (n.8+109_8+126del) | |
| 7 | g.44146494A= | CA1703613469 | GCK | c.*986T= (n.*986T=) c.*108T= (n.*108T=) n.214T= c.991T= (p.Phe331=) c.988T= (p.Phe330=) c.1051T= (p.Phe351=) c.985T= (p.Phe329=) c.937T= (p.Phe313=) n.286T= c.8+125T= (n.8+125T=) | |
| 7 | g.44146494A>C | CA4239473 | GCK | c.*986T>G (n.*986T>G) c.*108T>G (n.*108T>G) n.214T>G c.991T>G (p.Phe331Val) c.988T>G (p.Phe330Val) c.1051T>G (p.Phe351Val) c.985T>G (p.Phe329Val) c.937T>G (p.Phe313Val) n.286T>G c.8+125T>G (n.8+125T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44146494A>G | CA367399795 | GCK | c.*986T>C (n.*986T>C) c.*108T>C (n.*108T>C) n.214T>C c.991T>C (p.Phe331Leu) c.988T>C (p.Phe330Leu) c.1051T>C (p.Phe351Leu) c.985T>C (p.Phe329Leu) c.937T>C (p.Phe313Leu) n.286T>C c.8+125T>C (n.8+125T>C) | |
| 7 | g.44146494A>T | CA367399797 | GCK | c.*986T>A (n.*986T>A) c.*108T>A (n.*108T>A) n.214T>A c.991T>A (p.Phe331Ile) c.988T>A (p.Phe330Ile) c.1051T>A (p.Phe351Ile) c.985T>A (p.Phe329Ile) c.937T>A (p.Phe313Ile) n.286T>A c.8+125T>A (n.8+125T>A) | |
| 7 | g.44146495G>A | CA454607767 | GCK | c.*985C>T (n.*985C>T) c.*107C>T (n.*107C>T) n.213C>T c.990C>T (p.Ala330=) c.987C>T (p.Ala329=) c.1050C>T (p.Ala350=) c.984C>T (p.Ala328=) c.936C>T (p.Ala312=) n.285C>T c.8+124C>T (n.8+124C>T) | gnomAD v4 |
| 7 | g.44146495G>C | CA454607770 | GCK | c.*985C>G (n.*985C>G) c.*107C>G (n.*107C>G) n.213C>G c.990C>G (p.Ala330=) c.987C>G (p.Ala329=) c.1050C>G (p.Ala350=) c.984C>G (p.Ala328=) c.936C>G (p.Ala312=) n.285C>G c.8+124C>G (n.8+124C>G) | |
| 7 | g.44146495G>T | CA454607772 | GCK | c.*985C>A (n.*985C>A) c.*107C>A (n.*107C>A) n.213C>A c.990C>A (p.Ala330=) c.987C>A (p.Ala329=) c.1050C>A (p.Ala350=) c.984C>A (p.Ala328=) c.936C>A (p.Ala312=) n.285C>A c.8+124C>A (n.8+124C>A) | |
| 7 | g.44146496G>A | CA367399799 | GCK | c.*984C>T (n.*984C>T) c.*106C>T (n.*106C>T) n.212C>T c.989C>T (p.Ala330Val) c.986C>T (p.Ala329Val) c.1049C>T (p.Ala350Val) c.983C>T (p.Ala328Val) c.935C>T (p.Ala312Val) n.284C>T c.8+123C>T (n.8+123C>T) | gnomAD v4 |
| 7 | g.44146496G>C | CA367399800 | GCK | c.*984C>G (n.*984C>G) c.*106C>G (n.*106C>G) n.212C>G c.989C>G (p.Ala330Gly) c.986C>G (p.Ala329Gly) c.1049C>G (p.Ala350Gly) c.983C>G (p.Ala328Gly) c.935C>G (p.Ala312Gly) n.284C>G c.8+123C>G (n.8+123C>G) | gnomAD v4 |
| 7 | g.44146496G>T | CA367399801 | GCK | c.*984C>A (n.*984C>A) c.*106C>A (n.*106C>A) n.212C>A c.989C>A (p.Ala330Asp) c.986C>A (p.Ala329Asp) c.1049C>A (p.Ala350Asp) c.983C>A (p.Ala328Asp) c.935C>A (p.Ala312Asp) n.284C>A c.8+123C>A (n.8+123C>A) | gnomAD v4 |
| 7 | g.44146497C>A | CA367399803 | GCK | c.*983G>T (n.*983G>T) c.*105G>T (n.*105G>T) n.211G>T c.988G>T (p.Ala330Ser) c.985G>T (p.Ala329Ser) c.1048G>T (p.Ala350Ser) c.982G>T (p.Ala328Ser) c.934G>T (p.Ala312Ser) n.283G>T c.8+122G>T (n.8+122G>T) | |
| 7 | g.44146497C>G | CA367399805 | GCK | c.*983G>C (n.*983G>C) c.*105G>C (n.*105G>C) n.211G>C c.988G>C (p.Ala330Pro) c.985G>C (p.Ala329Pro) c.1048G>C (p.Ala350Pro) c.982G>C (p.Ala328Pro) c.934G>C (p.Ala312Pro) n.283G>C c.8+122G>C (n.8+122G>C) | |
| 7 | g.44146497C>T | CA367399806 | GCK | c.*983G>A (n.*983G>A) c.*105G>A (n.*105G>A) n.211G>A c.988G>A (p.Ala330Thr) c.985G>A (p.Ala329Thr) c.1048G>A (p.Ala350Thr) c.982G>A (p.Ala328Thr) c.934G>A (p.Ala312Thr) n.283G>A c.8+122G>A (n.8+122G>A) |