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 |
|---|---|---|---|---|---|
| 1 | g.56956817G>A | CA22833040 | C8B | c.*184C>T (n.*184C>T) c.*448C>T (n.*448C>T) c.343C>T (p.Pro115Ser) c.157C>T (p.Pro53Ser) c.187C>T (p.Pro63Ser) n.443C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.56956817G>C | CA340510567 | C8B | c.*184C>G (n.*184C>G) c.*448C>G (n.*448C>G) c.343C>G (p.Pro115Ala) c.157C>G (p.Pro53Ala) c.187C>G (p.Pro63Ala) n.443C>G | |
| 1 | g.56956817G= | CA1168786772 | C8B | c.*184C= (n.*184C=) c.*448C= (n.*448C=) c.343C= (p.Pro115=) c.157C= (p.Pro53=) c.187C= (p.Pro63=) n.443C= | |
| 1 | g.56956817G>T | CA340510568 | C8B | c.*184C>A (n.*184C>A) c.*448C>A (n.*448C>A) c.343C>A (p.Pro115Thr) c.157C>A (p.Pro53Thr) c.187C>A (p.Pro63Thr) n.443C>A | gnomAD v4 |
| 1 | g.56956818T>A | CA340510569 | C8B | c.*183A>T (n.*183A>T) c.*447A>T (n.*447A>T) c.342A>T (p.Arg114Ser) c.156A>T (p.Arg52Ser) c.186A>T (p.Arg62Ser) n.442A>T | |
| 1 | g.56956818T>C | CA417968723 | C8B | c.*183A>G (n.*183A>G) c.*447A>G (n.*447A>G) c.342A>G (p.Arg114=) c.156A>G (p.Arg52=) c.186A>G (p.Arg62=) n.442A>G | gnomAD v4 |
| 1 | g.56956818T>G | CA340510570 | C8B | c.*183A>C (n.*183A>C) c.*447A>C (n.*447A>C) c.342A>C (p.Arg114Ser) c.156A>C (p.Arg52Ser) c.186A>C (p.Arg62Ser) n.442A>C | |
| 1 | g.56956819C>A | CA340510571 | C8B | c.*182G>T (n.*182G>T) c.*446G>T (n.*446G>T) c.341G>T (p.Arg114Ile) c.155G>T (p.Arg52Ile) c.185G>T (p.Arg62Ile) n.441G>T | |
| 1 | g.56956819C= | CA1168786773 | C8B | c.*182G= (n.*182G=) c.*446G= (n.*446G=) c.341G= (p.Arg114=) c.155G= (p.Arg52=) c.185G= (p.Arg62=) n.441G= | |
| 1 | g.56956819C>G | CA340510572 | C8B | c.*182G>C (n.*182G>C) c.*446G>C (n.*446G>C) c.341G>C (p.Arg114Thr) c.155G>C (p.Arg52Thr) c.185G>C (p.Arg62Thr) n.441G>C | |
| 1 | g.56956819C>T | CA340510573 | C8B | c.*182G>A (n.*182G>A) c.*446G>A (n.*446G>A) c.341G>A (p.Arg114Lys) c.155G>A (p.Arg52Lys) c.185G>A (p.Arg62Lys) n.441G>A | dbSNP |
| 1 | g.56956820T>A | CA340510574 | C8B | c.*181A>T (n.*181A>T) c.*445A>T (n.*445A>T) c.340A>T (p.Arg114Ter) c.154A>T (p.Arg52Ter) c.184A>T (p.Arg62Ter) n.440A>T | |
| 1 | g.56956820T>C | CA340510575 | C8B | c.*181A>G (n.*181A>G) c.*445A>G (n.*445A>G) c.340A>G (p.Arg114Gly) c.154A>G (p.Arg52Gly) c.184A>G (p.Arg62Gly) n.440A>G | |
| 1 | g.56956820T>G | CA417968740 | C8B | c.*181A>C (n.*181A>C) c.*445A>C (n.*445A>C) c.340A>C (p.Arg114=) c.154A>C (p.Arg52=) c.184A>C (p.Arg62=) n.440A>C | |
| 1 | g.56956821G>A | CA417968745 | C8B | c.*180C>T (n.*180C>T) c.*444C>T (n.*444C>T) c.339C>T (p.Asn113=) c.153C>T (p.Asn51=) c.183C>T (p.Asn61=) n.439C>T | |
| 1 | g.56956821G>C | CA340510576 | C8B | c.*180C>G (n.*180C>G) c.*444C>G (n.*444C>G) c.339C>G (p.Asn113Lys) c.153C>G (p.Asn51Lys) c.183C>G (p.Asn61Lys) n.439C>G | |
| 1 | g.56956821G>T | CA340510577 | C8B | c.*180C>A (n.*180C>A) c.*444C>A (n.*444C>A) c.339C>A (p.Asn113Lys) c.153C>A (p.Asn51Lys) c.183C>A (p.Asn61Lys) n.439C>A | |
| 1 | g.56956822T>A | CA340510578 | C8B | c.*179A>T (n.*179A>T) c.*443A>T (n.*443A>T) c.338A>T (p.Asn113Ile) c.152A>T (p.Asn51Ile) c.182A>T (p.Asn61Ile) n.438A>T | gnomAD v4 |
| 1 | g.56956822T>C | CA340510580 | C8B | c.*179A>G (n.*179A>G) c.*443A>G (n.*443A>G) c.338A>G (p.Asn113Ser) c.152A>G (p.Asn51Ser) c.182A>G (p.Asn61Ser) n.438A>G | |
| 1 | g.56956822T>G | CA340510579 | C8B | c.*179A>C (n.*179A>C) c.*443A>C (n.*443A>C) c.338A>C (p.Asn113Thr) c.152A>C (p.Asn51Thr) c.182A>C (p.Asn61Thr) n.438A>C | |
| 1 | g.56956823T>A | CA340510581 | C8B | c.*178A>T (n.*178A>T) c.*442A>T (n.*442A>T) c.337A>T (p.Asn113Tyr) c.151A>T (p.Asn51Tyr) c.181A>T (p.Asn61Tyr) n.437A>T | |
| 1 | g.56956823T>C | CA876024 | C8B | c.*178A>G (n.*178A>G) c.*442A>G (n.*442A>G) c.337A>G (p.Asn113Asp) c.151A>G (p.Asn51Asp) c.181A>G (p.Asn61Asp) n.437A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.56956823T>G | CA340510582 | C8B | c.*178A>C (n.*178A>C) c.*442A>C (n.*442A>C) c.337A>C (p.Asn113His) c.151A>C (p.Asn51His) c.181A>C (p.Asn61His) n.437A>C | |
| 1 | g.56956823T= | CA1168786775 | C8B | c.*178A= (n.*178A=) c.*442A= (n.*442A=) c.337A= (p.Asn113=) c.151A= (p.Asn51=) c.181A= (p.Asn61=) n.437A= | |
| 1 | g.56956823_56956824delinsTG | CA1168786774 | C8B | c.*177_*178delinsCA (n.*177_*178delinsCA) c.*441_*442delinsCA (n.*441_*442delinsCA) c.336_337delinsCA (p.Thr112=) c.150_151delinsCA (p.Thr50=) c.180_181delinsCA (p.Thr60=) n.436_437delinsCA | |
| 1 | g.56956824G>A | CA417968774 | C8B | c.*177C>T (n.*177C>T) c.*441C>T (n.*441C>T) c.336C>T (p.Thr112=) c.150C>T (p.Thr50=) c.180C>T (p.Thr60=) n.436C>T | gnomAD v4 |
| 1 | g.56956824G>C | CA417968775 | C8B | c.*177C>G (n.*177C>G) c.*441C>G (n.*441C>G) c.336C>G (p.Thr112=) c.150C>G (p.Thr50=) c.180C>G (p.Thr60=) n.436C>G | |
| 1 | g.56956824G>T | CA417968776 | C8B | c.*177C>A (n.*177C>A) c.*441C>A (n.*441C>A) c.336C>A (p.Thr112=) c.150C>A (p.Thr50=) c.180C>A (p.Thr60=) n.436C>A | |
| 1 | g.56956824_56956825delinsGG | CA1143897584 | C8B | c.*176_*177delinsCC (n.*176_*177delinsCC) c.*440_*441delinsCC (n.*440_*441delinsCC) c.335_336delinsCC (p.Thr112=) c.149_150delinsCC (p.Thr50=) c.179_180delinsCC (p.Thr60=) n.435_436delinsCC | |
| 1 | g.56956825del | CA210871 | C8B | c.*177del (n.*177del) c.*441del (n.*441del) c.336del (p.Asn113ThrfsTer22) c.150del (p.Asn51ThrfsTer22) c.180del (p.Asn61ThrfsTer22) n.436del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.56956825G>A | CA340510583 | C8B | c.*176C>T (n.*176C>T) c.*440C>T (n.*440C>T) c.335C>T (p.Thr112Ile) c.149C>T (p.Thr50Ile) c.179C>T (p.Thr60Ile) n.435C>T | |
| 1 | g.56956825G>C | CA340510584 | C8B | c.*176C>G (n.*176C>G) c.*440C>G (n.*440C>G) c.335C>G (p.Thr112Ser) c.149C>G (p.Thr50Ser) c.179C>G (p.Thr60Ser) n.435C>G | |
| 1 | g.56956825G>T | CA340510585 | C8B | c.*176C>A (n.*176C>A) c.*440C>A (n.*440C>A) c.335C>A (p.Thr112Asn) c.149C>A (p.Thr50Asn) c.179C>A (p.Thr60Asn) n.435C>A | |
| 1 | g.56956826T>A | CA340510586 | C8B | c.*175A>T (n.*175A>T) c.*439A>T (n.*439A>T) c.334A>T (p.Thr112Ser) c.148A>T (p.Thr50Ser) c.178A>T (p.Thr60Ser) n.434A>T | |
| 1 | g.56956826T>C | CA340510587 | C8B | c.*175A>G (n.*175A>G) c.*439A>G (n.*439A>G) c.334A>G (p.Thr112Ala) c.148A>G (p.Thr50Ala) c.178A>G (p.Thr60Ala) n.434A>G | |
| 1 | g.56956826T>G | CA340510588 | C8B | c.*175A>C (n.*175A>C) c.*439A>C (n.*439A>C) c.334A>C (p.Thr112Pro) c.148A>C (p.Thr50Pro) c.178A>C (p.Thr60Pro) n.434A>C | |
| 1 | g.56956827A>C | CA417968790 | C8B | c.*174T>G (n.*174T>G) c.*438T>G (n.*438T>G) c.333T>G (p.Val111=) c.147T>G (p.Val49=) c.177T>G (p.Val59=) n.433T>G | |
| 1 | g.56956827A>G | CA417968795 | C8B | c.*174T>C (n.*174T>C) c.*438T>C (n.*438T>C) c.333T>C (p.Val111=) c.147T>C (p.Val49=) c.177T>C (p.Val59=) n.433T>C | |
| 1 | g.56956827A>T | CA417968800 | C8B | c.*174T>A (n.*174T>A) c.*438T>A (n.*438T>A) c.333T>A (p.Val111=) c.147T>A (p.Val49=) c.177T>A (p.Val59=) n.433T>A | |
| 1 | g.56956827_56956829delinsAAC | CA1168786776 | C8B | c.*172_*174delinsGTT (n.*172_*174delinsGTT) c.*436_*438delinsGTT (n.*436_*438delinsGTT) c.331_333delinsGTT (p.Val111=) c.145_147delinsGTT (p.Val49=) c.175_177delinsGTT (p.Val59=) n.431_433delinsGTT | |
| 1 | g.56956828A= | CA1168786777 | C8B | c.*173T= (n.*173T=) c.*437T= (n.*437T=) c.332T= (p.Val111=) c.146T= (p.Val49=) c.176T= (p.Val59=) n.432T= | |
| 1 | g.56956828A>C | CA340510590 | C8B | c.*173T>G (n.*173T>G) c.*437T>G (n.*437T>G) c.332T>G (p.Val111Gly) c.146T>G (p.Val49Gly) c.176T>G (p.Val59Gly) n.432T>G | |
| 1 | g.56956828A>G | CA340510591 | C8B | c.*173T>C (n.*173T>C) c.*437T>C (n.*437T>C) c.332T>C (p.Val111Ala) c.146T>C (p.Val49Ala) c.176T>C (p.Val59Ala) n.432T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.56956828A>T | CA340510589 | C8B | c.*173T>A (n.*173T>A) c.*437T>A (n.*437T>A) c.332T>A (p.Val111Asp) c.146T>A (p.Val49Asp) c.176T>A (p.Val59Asp) n.432T>A | |
| 1 | g.56956831_56956832del | CA737196565 | C8B | c.*172_*173del (n.*172_*173del) c.*436_*437del (n.*436_*437del) c.331_332del (p.Val111TyrfsTer12) c.145_146del (p.Val49TyrfsTer12) c.175_176del (p.Val59TyrfsTer12) n.431_432del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.56956829C>A | CA340510592 | C8B | c.*172G>T (n.*172G>T) c.*436G>T (n.*436G>T) c.331G>T (p.Val111Phe) c.145G>T (p.Val49Phe) c.175G>T (p.Val59Phe) n.431G>T | |
| 1 | g.56956829C>G | CA340510593 | C8B | c.*172G>C (n.*172G>C) c.*436G>C (n.*436G>C) c.331G>C (p.Val111Leu) c.145G>C (p.Val49Leu) c.175G>C (p.Val59Leu) n.431G>C | |
| 1 | g.56956829C>T | CA340510594 | C8B | c.*172G>A (n.*172G>A) c.*436G>A (n.*436G>A) c.331G>A (p.Val111Ile) c.145G>A (p.Val49Ile) c.175G>A (p.Val59Ile) n.431G>A | |
| 1 | g.56956830A= | CA1145644066 | C8B | c.*171T= (n.*171T=) c.*435T= (n.*435T=) c.330T= (p.Cys110=) c.144T= (p.Cys48=) c.174T= (p.Cys58=) n.430T= | |
| 1 | g.56956830A>C | CA340510595 | C8B | c.*171T>G (n.*171T>G) c.*435T>G (n.*435T>G) c.330T>G (p.Cys110Trp) c.144T>G (p.Cys48Trp) c.174T>G (p.Cys58Trp) n.430T>G |