Revel Score:
ENST00000312438 (MANE Select)
0.575
ENST00000533438
0.575
ENST00000528474
0.575
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67367597A>G , CM000673.2:g.67367597A>G | GRCh38 |
| NC_000011.9:g.67135068A>G , CM000673.1:g.67135068A>G | GRCh37 |
| NC_000011.8:g.66891644A>G | NCBI36 |
| NG_013377.1:g.11581T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312438.8:c.46T>C (CLCF1) MANE Select | ENSP00000309338.7:p.Cys16Arg | |
| ENST00000312438.7:c.46T>C (CLCF1) | ENSP00000309338.7:p.Cys16Arg | |
| ENST00000533438.1:c.16T>C (CLCF1) | ENSP00000434122.1:p.Cys6Arg | |
| ENST00000543494.1:c.16+5927T>C | ENSP00000480527.1:n.16+5927T>C | |
| ENST00000622583.4:n.392-19938A>G (RAD9A) | ||
| NM_001166212.1:c.16T>C (CLCF1) | NP_001159684.1:p.Cys6Arg | |
| NM_013246.2:c.46T>C (CLCF1) | NP_037378.1:p.Cys16Arg | |
| NR_024469.1:n.424-19938A>G | ||
| NM_013246.3:c.46T>C (CLCF1) MANE Select | NP_037378.1:p.Cys16Arg | |
| NM_001166212.2:c.16T>C (CLCF1) | NP_001159684.1:p.Cys6Arg |