Linked Data
ClinVar Variation Id:
88689
dbSNP Id:
rs143740376
ExAC:
21:33982163 G / A
gnomAD v2:
21-33982163-G-A
gnomAD v3:
21-32609853-G-A
gnomAD v4:
21-32609853-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32609853G>A , CM000683.2:g.32609853G>A | GRCh38 |
| NC_000021.8:g.33982163G>A , CM000683.1:g.33982163G>A | GRCh37 |
| NC_000021.7:g.32904034G>A | NCBI36 |
| NG_033839.1:g.7756C>T | |
| NG_033839.2:g.7756C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290155.8:c.292C>T (CFAP298) MANE Select | ENSP00000290155.3:p.Arg98Ter | |
| ENST00000553001.2:c.4C>T (CFAP298-TCP10L) | ENSP00000446874.2:p.Arg2Ter | |
| ENST00000673072.2:c.292C>T (CFAP298-TCP10L) | ENSP00000500800.2:p.Arg98Ter | |
| ENST00000673633.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501272.1:p.Arg98Ter | |
| ENST00000673722.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501143.1:p.Arg98Ter | |
| ENST00000673727.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501061.1:p.Arg98Ter | |
| ENST00000673807.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501088.1:p.Arg98Ter | |
| ENST00000673879.1:c.292C>T (CFAP298-TCP10L) | ENSP00000500977.1:p.Arg98Ter | |
| ENST00000673900.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501184.1:p.Arg98Ter | |
| ENST00000673945.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501020.1:p.Arg98Ter | |
| ENST00000673985.1:c.292C>T (CFAP298-TCP10L) | ENSP00000500984.1:p.Arg98Ter | |
| ENST00000674025.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501264.1:p.Arg98Ter | |
| ENST00000674042.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501000.1:p.Arg98Ter | |
| ENST00000674072.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501221.1:p.Arg98Ter | |
| ENST00000674122.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501276.1:p.Arg98Ter | |
| ENST00000674123.1:c.292C>T (CFAP298-TCP10L) | ENSP00000501038.1:p.Arg98Ter | |
| ENST00000290155.7:c.292C>T (CFAP298) | ENSP00000290155.3:p.Arg98Ter | |
| ENST00000300260.7:c.292C>T (CFAP298) | ENSP00000300260.7:p.Arg98Ter | |
| ENST00000382549.8:c.292C>T (CFAP298) | ENSP00000371989.4:p.Arg98Ter | |
| ENST00000431216.5:c.195C>T (CFAP298-TCP10L) | ||
| ENST00000440966.5:c.292C>T (CFAP298) | ENSP00000411467.1:p.Arg98Ter | |
| ENST00000458138.1:c.241C>T (CFAP298) | ENSP00000393104.1:p.Arg81Ter | |
| ENST00000553001.1:c.292C>T (CFAP298-TCP10L) | ENSP00000446874.1:p.Arg98Ter | |
| NM_021254.2:c.292C>T (CFAP298) | NP_067077.1:p.Arg98Ter | |
| NR_036552.1:n.652C>T (CFAP298) | ||
| NM_001350334.1:c.63C>T (CFAP298) | NP_001337263.1:p.Asp21= | |
| NM_001350335.1:c.292C>T (CFAP298) | NP_001337264.1:p.Arg98Ter | |
| NM_001350336.1:c.292C>T (CFAP298) | NP_001337265.1:p.Arg98Ter | |
| NM_001350337.1:c.292C>T (CFAP298) | NP_001337266.1:p.Arg98Ter | |
| NM_001350338.1:c.292C>T (CFAP298-TCP10L) | NP_001337267.1:p.Arg98Ter | |
| NM_021254.3:c.292C>T (CFAP298) | NP_067077.1:p.Arg98Ter | |
| NR_146638.1:n.920C>T (CFAP298-TCP10L) | ||
| NR_146639.1:n.920C>T (CFAP298-TCP10L) | ||
| NM_021254.4:c.292C>T (CFAP298) MANE Select | NP_067077.1:p.Arg98Ter | |
| NM_001350334.2:c.63C>T (CFAP298) | NP_001337263.1:p.Asp21= | |
| NM_001350336.2:c.292C>T (CFAP298) | NP_001337265.1:p.Arg98Ter | |
| NM_001350337.2:c.292C>T (CFAP298) | NP_001337266.1:p.Arg98Ter | |
| NM_001350338.2:c.292C>T (CFAP298-TCP10L) | NP_001337267.1:p.Arg98Ter | |
| NR_146638.2:n.426C>T (CFAP298-TCP10L) | ||
| NR_146639.2:n.426C>T (CFAP298-TCP10L) | ||
| NM_001350335.2:c.292C>T (CFAP298) | NP_001337264.1:p.Arg98Ter |