WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.78617049T>A | CA393588965 | CHRNA3 | c.352A>T (p.Lys118Ter) n.853A>T c.151A>T (p.Lys51Ter) c.271A>T (p.Lys91Ter) n.554A>T | |
| 15 | g.78617049T>C | CA393588970 | CHRNA3 | c.352A>G (p.Lys118Glu) n.853A>G c.151A>G (p.Lys51Glu) c.271A>G (p.Lys91Glu) n.554A>G | |
| 15 | g.78617049T>G | CA393588967 | CHRNA3 | c.352A>C (p.Lys118Gln) n.853A>C c.151A>C (p.Lys51Gln) c.271A>C (p.Lys91Gln) n.554A>C | |
| 15 | g.78617050C>A | CA393588973 | CHRNA3 | c.351G>T (p.Trp117Cys) n.852G>T c.150G>T (p.Trp50Cys) c.270G>T (p.Trp90Cys) n.553G>T | |
| 15 | g.78617050C>G | CA393588978 | CHRNA3 | c.351G>C (p.Trp117Cys) n.852G>C c.150G>C (p.Trp50Cys) c.270G>C (p.Trp90Cys) n.553G>C | |
| 15 | g.78617050C>T | CA393588975 | CHRNA3 | c.351G>A (p.Trp117Ter) n.852G>A c.150G>A (p.Trp50Ter) c.270G>A (p.Trp90Ter) n.553G>A | |
| 15 | g.78617051C>A | CA393588980 | CHRNA3 | c.350G>T (p.Trp117Leu) n.851G>T c.149G>T (p.Trp50Leu) c.269G>T (p.Trp90Leu) n.552G>T | |
| 15 | g.78617051C= | CA2189602576 | CHRNA3 | c.350G= (p.Trp117=) n.851G= c.149G= (p.Trp50=) c.269G= (p.Trp90=) n.552G= | |
| 15 | g.78617051C>G | CA393588982 | CHRNA3 | c.350G>C (p.Trp117Ser) n.851G>C c.149G>C (p.Trp50Ser) c.269G>C (p.Trp90Ser) n.552G>C | |
| 15 | g.78617051C>T | CA393588984 | CHRNA3 | c.350G>A (p.Trp117Ter) n.851G>A c.149G>A (p.Trp50Ter) c.269G>A (p.Trp90Ter) n.552G>A | gnomAD v4 |
| 15 | g.78617052A= | CA2189602577 | CHRNA3 | c.349T= (p.Trp117=) n.850T= c.148T= (p.Trp50=) c.268T= (p.Trp90=) n.551T= | |
| 15 | g.78617052A>C | CA393588990 | CHRNA3 | c.349T>G (p.Trp117Gly) n.850T>G c.148T>G (p.Trp50Gly) c.268T>G (p.Trp90Gly) n.551T>G | |
| 15 | g.78617052A>G | CA393588991 | CHRNA3 | c.349T>C (p.Trp117Arg) n.850T>C c.148T>C (p.Trp50Arg) c.268T>C (p.Trp90Arg) n.551T>C | |
| 15 | g.78617052A>T | CA393588993 | CHRNA3 | c.349T>A (p.Trp117Arg) n.850T>A c.148T>A (p.Trp50Arg) c.268T>A (p.Trp90Arg) n.551T>A | dbSNP |
| 15 | g.78617052dup | CA7684530 | CHRNA3 | c.349dup (p.Trp117LeufsTer9) n.850dup c.148dup (p.Trp50LeufsTer9) c.268dup (p.Trp90LeufsTer9) n.551dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.78617053G>A | CA491626261 | CHRNA3 | c.348C>T (p.Ile116=) n.849C>T c.147C>T (p.Ile49=) c.267C>T (p.Ile89=) n.550C>T | |
| 15 | g.78617053G>C | CA393588995 | CHRNA3 | c.348C>G (p.Ile116Met) n.849C>G c.147C>G (p.Ile49Met) c.267C>G (p.Ile89Met) n.550C>G | |
| 15 | g.78617053G>T | CA491626265 | CHRNA3 | c.348C>A (p.Ile116=) n.849C>A c.147C>A (p.Ile49=) c.267C>A (p.Ile89=) n.550C>A | |
| 15 | g.78617054A= | CA2189602578 | CHRNA3 | c.347T= (p.Ile116=) n.848T= c.146T= (p.Ile49=) c.266T= (p.Ile89=) n.549T= | |
| 15 | g.78617054A>C | CA393588997 | CHRNA3 | c.347T>G (p.Ile116Ser) n.848T>G c.146T>G (p.Ile49Ser) c.266T>G (p.Ile89Ser) n.549T>G | gnomAD v4 |
| 15 | g.78617054A>G | CA393588999 | CHRNA3 | c.347T>C (p.Ile116Thr) n.848T>C c.146T>C (p.Ile49Thr) c.266T>C (p.Ile89Thr) n.549T>C | |
| 15 | g.78617054A>T | CA393589001 | CHRNA3 | c.347T>A (p.Ile116Asn) n.848T>A c.146T>A (p.Ile49Asn) c.266T>A (p.Ile89Asn) n.549T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.78617054_78617057delinsATCT | CA2189602579 | CHRNA3 | c.344_347delinsAGAT (p.Lys115=) n.845_848delinsAGAT c.143_146delinsAGAT (p.Lys48=) c.263_266delinsAGAT (p.Lys88=) n.546_549delinsAGAT | |
| 15 | g.78617055T>A | CA393589015 | CHRNA3 | c.346A>T (p.Ile116Phe) n.847A>T c.145A>T (p.Ile49Phe) c.265A>T (p.Ile89Phe) n.548A>T | |
| 15 | g.78617055T>C | CA393589003 | CHRNA3 | c.346A>G (p.Ile116Val) n.847A>G c.145A>G (p.Ile49Val) c.265A>G (p.Ile89Val) n.548A>G | |
| 15 | g.78617055T>G | CA393589005 | CHRNA3 | c.346A>C (p.Ile116Leu) n.847A>C c.145A>C (p.Ile49Leu) c.265A>C (p.Ile89Leu) n.548A>C | |
| 15 | g.78617058_78617060del | CA715974910 | CHRNA3 | c.344_346del (p.Lys115del) n.845_847del c.143_145del (p.Lys48del) c.263_265del (p.Lys88del) n.546_548del | dbSNP gnomAD v4 |
| 15 | g.78617056C>A | CA393589017 | CHRNA3 | c.345G>T (p.Lys115Asn) n.846G>T c.144G>T (p.Lys48Asn) c.264G>T (p.Lys88Asn) n.547G>T | |
| 15 | g.78617056C= | CA2189602580 | CHRNA3 | c.345G= (p.Lys115=) n.846G= c.144G= (p.Lys48=) c.264G= (p.Lys88=) n.547G= | |
| 15 | g.78617056C>G | CA393589019 | CHRNA3 | c.345G>C (p.Lys115Asn) n.846G>C c.144G>C (p.Lys48Asn) c.264G>C (p.Lys88Asn) n.547G>C | |
| 15 | g.78617056C>T | CA7684531 | CHRNA3 | c.345G>A (p.Lys115=) n.846G>A c.144G>A (p.Lys48=) c.264G>A (p.Lys88=) n.547G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.78617057T>A | CA393589023 | CHRNA3 | c.344A>T (p.Lys115Met) n.845A>T c.143A>T (p.Lys48Met) c.263A>T (p.Lys88Met) n.546A>T | |
| 15 | g.78617057T>C | CA393589024 | CHRNA3 | c.344A>G (p.Lys115Arg) n.845A>G c.143A>G (p.Lys48Arg) c.263A>G (p.Lys88Arg) n.546A>G | |
| 15 | g.78617057T>G | CA393589026 | CHRNA3 | c.344A>C (p.Lys115Thr) n.845A>C c.143A>C (p.Lys48Thr) c.263A>C (p.Lys88Thr) n.546A>C | |
| 15 | g.78617058T>A | CA393589029 | CHRNA3 | c.343A>T (p.Lys115Ter) n.844A>T c.142A>T (p.Lys48Ter) c.262A>T (p.Lys88Ter) n.545A>T | |
| 15 | g.78617058T>C | CA393589031 | CHRNA3 | c.343A>G (p.Lys115Glu) n.844A>G c.142A>G (p.Lys48Glu) c.262A>G (p.Lys88Glu) n.545A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.78617058T>G | CA393589032 | CHRNA3 | c.343A>C (p.Lys115Gln) n.844A>C c.142A>C (p.Lys48Gln) c.262A>C (p.Lys88Gln) n.545A>C | |
| 15 | g.78617058T= | CA2189602581 | CHRNA3 | c.343A= (p.Lys115=) n.844A= c.142A= (p.Lys48=) c.262A= (p.Lys88=) n.545A= | |
| 15 | g.78617059C>A | CA393589033 | CHRNA3 | c.342G>T (p.Gln114His) n.843G>T c.141G>T (p.Gln47His) c.261G>T (p.Gln87His) n.544G>T | |
| 15 | g.78617059C>G | CA393589034 | CHRNA3 | c.342G>C (p.Gln114His) n.843G>C c.141G>C (p.Gln47His) c.261G>C (p.Gln87His) n.544G>C | |
| 15 | g.78617059C>T | CA491626290 | CHRNA3 | c.342G>A (p.Gln114=) n.843G>A c.141G>A (p.Gln47=) c.261G>A (p.Gln87=) n.544G>A | |
| 15 | g.78617060T>A | CA393589036 | CHRNA3 | c.341A>T (p.Gln114Leu) n.842A>T c.140A>T (p.Gln47Leu) c.260A>T (p.Gln87Leu) n.543A>T | |
| 15 | g.78617060T>C | CA393589037 | CHRNA3 | c.341A>G (p.Gln114Arg) n.842A>G c.140A>G (p.Gln47Arg) c.260A>G (p.Gln87Arg) n.543A>G | |
| 15 | g.78617060T>G | CA393589035 | CHRNA3 | c.341A>C (p.Gln114Pro) n.842A>C c.140A>C (p.Gln47Pro) c.260A>C (p.Gln87Pro) n.543A>C | |
| 15 | g.78617061G>A | CA273915183 | CHRNA3 | c.340C>T (p.Gln114Ter) n.841C>T c.139C>T (p.Gln47Ter) c.259C>T (p.Gln87Ter) n.542C>T | dbSNP |
| 15 | g.78617061G>C | CA393589038 | CHRNA3 | c.340C>G (p.Gln114Glu) n.841C>G c.139C>G (p.Gln47Glu) c.259C>G (p.Gln87Glu) n.542C>G | |
| 15 | g.78617061G= | CA2189602582 | CHRNA3 | c.340C= (p.Gln114=) n.841C= c.139C= (p.Gln47=) c.259C= (p.Gln87=) n.542C= | |
| 15 | g.78617061G>T | CA393589039 | CHRNA3 | c.340C>A (p.Gln114Lys) n.841C>A c.139C>A (p.Gln47Lys) c.259C>A (p.Gln87Lys) n.542C>A | |
| 15 | g.78617062T>A | CA491626298 | CHRNA3 | c.339A>T (p.Ala113=) n.840A>T c.138A>T (p.Ala46=) c.258A>T (p.Ala86=) n.541A>T | |
| 15 | g.78617062T>C | CA491626301 | CHRNA3 | c.339A>G (p.Ala113=) n.840A>G c.138A>G (p.Ala46=) c.258A>G (p.Ala86=) n.541A>G | dbSNP |