Linked Data
ClinVar Variation Id:
768458
ClinVar RCV Id:
RCV000947358
dbSNP Id:
rs145660153
ExAC:
11:67133009 C / T
gnomAD v2:
11-67133009-C-T
gnomAD v3:
11-67365538-C-T
gnomAD v4:
11-67365538-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67365538C>T , CM000673.2:g.67365538C>T | GRCh38 |
| NC_000011.9:g.67133009C>T , CM000673.1:g.67133009C>T | GRCh37 |
| NC_000011.8:g.66889585C>T | NCBI36 |
| NG_013377.1:g.13640G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312438.8:c.276G>A (CLCF1) MANE Select | ENSP00000309338.7:p.Glu92= | |
| ENST00000312438.7:c.276G>A (CLCF1) | ENSP00000309338.7:p.Glu92= | |
| ENST00000533438.1:c.246G>A (CLCF1) | ENSP00000434122.1:p.Glu82= | |
| ENST00000543494.1:c.16+7986G>A | ENSP00000480527.1:n.16+7986G>A | |
| ENST00000622583.4:n.392-21997C>T (RAD9A) | ||
| NM_001166212.1:c.246G>A (CLCF1) | NP_001159684.1:p.Glu82= | |
| NM_013246.2:c.276G>A (CLCF1) | NP_037378.1:p.Glu92= | |
| NR_024469.1:n.424-21997C>T | ||
| NM_013246.3:c.276G>A (CLCF1) MANE Select | NP_037378.1:p.Glu92= | |
| NM_001166212.2:c.246G>A (CLCF1) | NP_001159684.1:p.Glu82= |