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 |
|---|---|---|---|---|---|
| X | g.49216489C>A | CA516377338 | CACNA1F | c.3129G>T (p.Arg1043=) c.2967G>T (p.Arg989=) c.3162G>T (p.Arg1054=) c.396G>T (p.Arg132=) | |
| X | g.49216489C>G | CA516377339 | CACNA1F | c.3129G>C (p.Arg1043=) c.2967G>C (p.Arg989=) c.3162G>C (p.Arg1054=) c.396G>C (p.Arg132=) | |
| X | g.49216489C>T | CA516377340 | CACNA1F | c.3129G>A (p.Arg1043=) c.2967G>A (p.Arg989=) c.3162G>A (p.Arg1054=) c.396G>A (p.Arg132=) | |
| X | g.49216490C>A | CA412964084 | CACNA1F | c.3128G>T (p.Arg1043Leu) c.2966G>T (p.Arg989Leu) c.3161G>T (p.Arg1054Leu) c.395G>T (p.Arg132Leu) | |
| X | g.49216490C= | CA2428539744 | CACNA1F | c.3128G= (p.Arg1043=) c.2966G= (p.Arg989=) c.3161G= (p.Arg1054=) c.395G= (p.Arg132=) | |
| X | g.49216490C>G | CA412964085 | CACNA1F | c.3128G>C (p.Arg1043Pro) c.2966G>C (p.Arg989Pro) c.3161G>C (p.Arg1054Pro) c.395G>C (p.Arg132Pro) | |
| X | g.49216490C>T | CA329140263 | CACNA1F | c.3128G>A (p.Arg1043Gln) c.2966G>A (p.Arg989Gln) c.3161G>A (p.Arg1054Gln) c.395G>A (p.Arg132Gln) | dbSNP gnomAD v2 |
| X | g.49216491G>A | CA412964086 | CACNA1F | c.3127C>T (p.Arg1043Trp) c.2965C>T (p.Arg989Trp) c.3160C>T (p.Arg1054Trp) c.394C>T (p.Arg132Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.49216491G>C | CA412964087 | CACNA1F | c.3127C>G (p.Arg1043Gly) c.2965C>G (p.Arg989Gly) c.3160C>G (p.Arg1054Gly) c.394C>G (p.Arg132Gly) | |
| X | g.49216491G= | CA2428539745 | CACNA1F | c.3127C= (p.Arg1043=) c.2965C= (p.Arg989=) c.3160C= (p.Arg1054=) c.394C= (p.Arg132=) | |
| X | g.49216491G>T | CA516377341 | CACNA1F | c.3127C>A (p.Arg1043=) c.2965C>A (p.Arg989=) c.3160C>A (p.Arg1054=) c.394C>A (p.Arg132=) | |
| X | g.49216492T>A | CA516377342 | CACNA1F | c.3126A>T (p.Ser1042=) c.2964A>T (p.Ser988=) c.3159A>T (p.Ser1053=) c.393A>T (p.Ser131=) | |
| X | g.49216492T>C | CA516377343 | CACNA1F | c.3126A>G (p.Ser1042=) c.2964A>G (p.Ser988=) c.3159A>G (p.Ser1053=) c.393A>G (p.Ser131=) | |
| X | g.49216492T>G | CA516377344 | CACNA1F | c.3126A>C (p.Ser1042=) c.2964A>C (p.Ser988=) c.3159A>C (p.Ser1053=) c.393A>C (p.Ser131=) | |
| X | g.49216493G>A | CA412964088 | CACNA1F | c.3125C>T (p.Ser1042Leu) c.2963C>T (p.Ser988Leu) c.3158C>T (p.Ser1053Leu) c.392C>T (p.Ser131Leu) | |
| X | g.49216493G>C | CA412964089 | CACNA1F | c.3125C>G (p.Ser1042Ter) c.2963C>G (p.Ser988Ter) c.3158C>G (p.Ser1053Ter) c.392C>G (p.Ser131Ter) | |
| X | g.49216493G>T | CA412964090 | CACNA1F | c.3125C>A (p.Ser1042Ter) c.2963C>A (p.Ser988Ter) c.3158C>A (p.Ser1053Ter) c.392C>A (p.Ser131Ter) | |
| X | g.49216494A>C | CA412964091 | CACNA1F | c.3124T>G (p.Ser1042Ala) c.2962T>G (p.Ser988Ala) c.3157T>G (p.Ser1053Ala) c.391T>G (p.Ser131Ala) | |
| X | g.49216494A>G | CA412964092 | CACNA1F | c.3124T>C (p.Ser1042Pro) c.2962T>C (p.Ser988Pro) c.3157T>C (p.Ser1053Pro) c.391T>C (p.Ser131Pro) | |
| X | g.49216494A>T | CA412964093 | CACNA1F | c.3124T>A (p.Ser1042Thr) c.2962T>A (p.Ser988Thr) c.3157T>A (p.Ser1053Thr) c.391T>A (p.Ser131Thr) | |
| X | g.49216495C>A | CA516377345 | CACNA1F | c.3123G>T (p.Val1041=) c.2961G>T (p.Val987=) c.3156G>T (p.Val1052=) c.390G>T (p.Val130=) | |
| X | g.49216495C>G | CA516377346 | CACNA1F | c.3123G>C (p.Val1041=) c.2961G>C (p.Val987=) c.3156G>C (p.Val1052=) c.390G>C (p.Val130=) | |
| X | g.49216495C>T | CA516377347 | CACNA1F | c.3123G>A (p.Val1041=) c.2961G>A (p.Val987=) c.3156G>A (p.Val1052=) c.390G>A (p.Val130=) | |
| X | g.49216496A>C | CA412964094 | CACNA1F | c.3122T>G (p.Val1041Gly) c.2960T>G (p.Val987Gly) c.3155T>G (p.Val1052Gly) c.389T>G (p.Val130Gly) | |
| X | g.49216496A>G | CA412964095 | CACNA1F | c.3122T>C (p.Val1041Ala) c.2960T>C (p.Val987Ala) c.3155T>C (p.Val1052Ala) c.389T>C (p.Val130Ala) | |
| X | g.49216496A>T | CA412964096 | CACNA1F | c.3122T>A (p.Val1041Glu) c.2960T>A (p.Val987Glu) c.3155T>A (p.Val1052Glu) c.389T>A (p.Val130Glu) | |
| X | g.49216497C>A | CA412964097 | CACNA1F | c.3121G>T (p.Val1041Leu) c.2959G>T (p.Val987Leu) c.3154G>T (p.Val1052Leu) c.388G>T (p.Val130Leu) | |
| X | g.49216497C= | CA2428539746 | CACNA1F | c.3121G= (p.Val1041=) c.2959G= (p.Val987=) c.3154G= (p.Val1052=) c.388G= (p.Val130=) | |
| X | g.49216497C>G | CA412964098 | CACNA1F | c.3121G>C (p.Val1041Leu) c.2959G>C (p.Val987Leu) c.3154G>C (p.Val1052Leu) c.388G>C (p.Val130Leu) | |
| X | g.49216497C>T | CA412964099 | CACNA1F | c.3121G>A (p.Val1041Met) c.2959G>A (p.Val987Met) c.3154G>A (p.Val1052Met) c.388G>A (p.Val130Met) | dbSNP gnomAD v4 |
| X | g.49216498G>A | CA10410526 | CACNA1F | c.3120C>T (p.Asp1040=) c.2958C>T (p.Asp986=) c.3153C>T (p.Asp1051=) c.387C>T (p.Asp129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.49216498G>C | CA412964100 | CACNA1F | c.3120C>G (p.Asp1040Glu) c.2958C>G (p.Asp986Glu) c.3153C>G (p.Asp1051Glu) c.387C>G (p.Asp129Glu) | dbSNP gnomAD v4 |
| X | g.49216498G= | CA2428539747 | CACNA1F | c.3120C= (p.Asp1040=) c.2958C= (p.Asp986=) c.3153C= (p.Asp1051=) c.387C= (p.Asp129=) | |
| X | g.49216498G>T | CA412964101 | CACNA1F | c.3120C>A (p.Asp1040Glu) c.2958C>A (p.Asp986Glu) c.3153C>A (p.Asp1051Glu) c.387C>A (p.Asp129Glu) | gnomAD v4 |
| X | g.49216499T>A | CA412964102 | CACNA1F | c.3119A>T (p.Asp1040Val) c.2957A>T (p.Asp986Val) c.3152A>T (p.Asp1051Val) c.386A>T (p.Asp129Val) | |
| X | g.49216499T>C | CA412964103 | CACNA1F | c.3119A>G (p.Asp1040Gly) c.2957A>G (p.Asp986Gly) c.3152A>G (p.Asp1051Gly) c.386A>G (p.Asp129Gly) | gnomAD v4 |
| X | g.49216499T>G | CA412964104 | CACNA1F | c.3119A>C (p.Asp1040Ala) c.2957A>C (p.Asp986Ala) c.3152A>C (p.Asp1051Ala) c.386A>C (p.Asp129Ala) | |
| X | g.49216500C>A | CA412964105 | CACNA1F | c.3118G>T (p.Asp1040Tyr) c.2956G>T (p.Asp986Tyr) c.3151G>T (p.Asp1051Tyr) c.385G>T (p.Asp129Tyr) | |
| X | g.49216500C>G | CA412964106 | CACNA1F | c.3118G>C (p.Asp1040His) c.2956G>C (p.Asp986His) c.3151G>C (p.Asp1051His) c.385G>C (p.Asp129His) | |
| X | g.49216500C>T | CA412964107 | CACNA1F | c.3118G>A (p.Asp1040Asn) c.2956G>A (p.Asp986Asn) c.3151G>A (p.Asp1051Asn) c.385G>A (p.Asp129Asn) | |
| X | g.49216501T>A | CA516377348 | CACNA1F | c.3117A>T (p.Gly1039=) c.2955A>T (p.Gly985=) c.3150A>T (p.Gly1050=) c.384A>T (p.Gly128=) | |
| X | g.49216501T>C | CA516377349 | CACNA1F | c.3117A>G (p.Gly1039=) c.2955A>G (p.Gly985=) c.3150A>G (p.Gly1050=) c.384A>G (p.Gly128=) | |
| X | g.49216501T>G | CA516377350 | CACNA1F | c.3117A>C (p.Gly1039=) c.2955A>C (p.Gly985=) c.3150A>C (p.Gly1050=) c.384A>C (p.Gly128=) | |
| X | g.49216502C>A | CA412964108 | CACNA1F | c.3116G>T (p.Gly1039Val) c.2954G>T (p.Gly985Val) c.3149G>T (p.Gly1050Val) c.383G>T (p.Gly128Val) | gnomAD v4 |
| X | g.49216502C>G | CA412964109 | CACNA1F | c.3116G>C (p.Gly1039Ala) c.2954G>C (p.Gly985Ala) c.3149G>C (p.Gly1050Ala) c.383G>C (p.Gly128Ala) | |
| X | g.49216502C>T | CA412964110 | CACNA1F | c.3116G>A (p.Gly1039Glu) c.2954G>A (p.Gly985Glu) c.3149G>A (p.Gly1050Glu) c.383G>A (p.Gly128Glu) | COSMIC |
| X | g.49216503C>A | CA412964111 | CACNA1F | c.3115G>T (p.Gly1039Ter) c.2953G>T (p.Gly985Ter) c.3148G>T (p.Gly1050Ter) c.382G>T (p.Gly128Ter) | |
| X | g.49216503C>G | CA412964112 | CACNA1F | c.3115G>C (p.Gly1039Arg) c.2953G>C (p.Gly985Arg) c.3148G>C (p.Gly1050Arg) c.382G>C (p.Gly128Arg) | |
| X | g.49216503C>T | CA412964113 | CACNA1F | c.3115G>A (p.Gly1039Arg) c.2953G>A (p.Gly985Arg) c.3148G>A (p.Gly1050Arg) c.382G>A (p.Gly128Arg) | |
| X | g.49216504A= | CA2428539748 | CACNA1F | c.3114T= (p.Asp1038=) c.2952T= (p.Asp984=) c.3147T= (p.Asp1049=) c.381T= (p.Asp127=) |