gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67365493G>A , CM000673.2:g.67365493G>A | GRCh38 |
| NC_000011.9:g.67132964G>A , CM000673.1:g.67132964G>A | GRCh37 |
| NC_000011.8:g.66889540G>A | NCBI36 |
| NG_013377.1:g.13685C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312438.8:c.321C>T (CLCF1) MANE Select | ENSP00000309338.7:p.Tyr107= | |
| ENST00000312438.7:c.321C>T (CLCF1) | ENSP00000309338.7:p.Tyr107= | |
| ENST00000533438.1:c.291C>T (CLCF1) | ENSP00000434122.1:p.Tyr97= | |
| ENST00000543494.1:c.16+8031C>T | ENSP00000480527.1:n.16+8031C>T | |
| ENST00000622583.4:n.392-22042G>A (RAD9A) | ||
| NM_001166212.1:c.291C>T (CLCF1) | NP_001159684.1:p.Tyr97= | |
| NM_013246.2:c.321C>T (CLCF1) | NP_037378.1:p.Tyr107= | |
| NR_024469.1:n.424-22042G>A | ||
| NM_013246.3:c.321C>T (CLCF1) MANE Select | NP_037378.1:p.Tyr107= | |
| NM_001166212.2:c.291C>T (CLCF1) | NP_001159684.1:p.Tyr97= |