Linked Data
ClinVar Variation Id:
2931
ClinVar RCV Id:
RCV000003065
dbSNP Id:
rs104894203
gnomAD v2:
11-67132695-C-A
gnomAD v4:
11-67365224-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67365224C>A , CM000673.2:g.67365224C>A | GRCh38 |
| NC_000011.9:g.67132695C>A , CM000673.1:g.67132695C>A | GRCh37 |
| NC_000011.8:g.66889271C>A | NCBI36 |
| NG_013377.1:g.13954G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312438.8:c.590G>T (CLCF1) MANE Select | ENSP00000309338.7:p.Arg197Leu | |
| ENST00000312438.7:c.590G>T (CLCF1) | ENSP00000309338.7:p.Arg197Leu | |
| ENST00000533438.1:c.560G>T (CLCF1) | ENSP00000434122.1:p.Arg187Leu | |
| ENST00000543494.1:c.16+8300G>T | ENSP00000480527.1:n.16+8300G>T | |
| ENST00000622583.4:n.392-22311C>A (RAD9A) | ||
| NM_001166212.1:c.560G>T (CLCF1) | NP_001159684.1:p.Arg187Leu | |
| NM_013246.2:c.590G>T (CLCF1) | NP_037378.1:p.Arg197Leu | |
| NR_024469.1:n.424-22311C>A | ||
| NM_013246.3:c.590G>T (CLCF1) MANE Select | NP_037378.1:p.Arg197Leu | |
| NM_001166212.2:c.560G>T (CLCF1) | NP_001159684.1:p.Arg187Leu |