Linked Data
ClinVar Variation Id:
372250
ClinVar RCV Id:
RCV000412667
dbSNP Id:
rs1057518752
gnomAD v4:
3-128910144-C-G
PubMed:
PMID:27233227
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128910144C>G , CM000665.2:g.128910144C>G | GRCh38 |
| NC_000003.11:g.128628987C>G , CM000665.1:g.128628987C>G | GRCh37 |
| NC_000003.10:g.130111677C>G | NCBI36 |
| NG_017064.1:g.35655C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645291.3:c.*155G>C (CFAP92) MANE Select | ENSP00000496592.2:n.*155G>C | |
| ENST00000308982.12:c.1687C>G (ACAD9) MANE Select | ENSP00000312618.7:p.His563Asp | |
| ENST00000511325.2:n.2364C>G (ACAD9) | ||
| ENST00000645291.2:c.*155G>C (CFAP92) | ENSP00000496592.2:n.*155G>C | |
| ENST00000679399.1:c.*1858C>G (ACAD9) | ENSP00000505434.1:n.*1858C>G | |
| ENST00000679431.1:c.*1563C>G (ACAD9) | ENSP00000506440.1:n.*1563C>G | |
| ENST00000679613.1:c.1687C>G (ACAD9) | ENSP00000504971.1:p.His563Asp | |
| ENST00000679715.1:c.1318C>G (ACAD9) | ENSP00000506228.1:p.His440Asp | |
| ENST00000679824.1:c.*2993C>G (ACAD9) | ENSP00000505516.1:n.*2993C>G | |
| ENST00000679990.1:n.2521C>G (ACAD9) | ||
| ENST00000680636.1:c.1781C>G (ACAD9) | ENSP00000504886.1:p.Pro594Arg | |
| ENST00000680638.1:n.2039C>G (ACAD9) | ||
| ENST00000680744.1:c.*1040C>G (ACAD9) | ENSP00000505243.1:n.*1040C>G | |
| ENST00000680764.1:c.*3091C>G (ACAD9) | ENSP00000505126.1:n.*3091C>G | |
| ENST00000681319.1:n.2473C>G (ACAD9) | ||
| ENST00000681367.1:c.1687C>G (ACAD9) | ENSP00000505309.1:p.His563Asp | |
| ENST00000681552.1:c.1150-2363C>G (ACAD9) | ENSP00000505699.1:n.1150-2363C>G | |
| ENST00000681583.1:c.1687C>G (ACAD9) | ENSP00000506340.1:p.His563Asp | |
| ENST00000681585.1:c.*306C>G (ACAD9) | ENSP00000506316.1:n.*306C>G | |
| ENST00000681784.1:n.2364C>G (ACAD9) | ||
| ENST00000681886.1:c.*1479C>G (ACAD9) | ENSP00000506500.1:n.*1479C>G | |
| ENST00000308982.11:c.1687C>G (ACAD9) | ENSP00000312618.7:p.His563Asp | |
| ENST00000505867.5:c.*1487C>G (ACAD9) | ENSP00000425346.1:n.*1487C>G | |
| ENST00000508239.1:c.*155G>C | ENSP00000424951.1:n.*155G>C | |
| ENST00000508971.1:c.976C>G (ACAD9) | ENSP00000422683.1:p.His326Asp | |
| ENST00000511227.5:c.*1581C>G (ACAD9) | ENSP00000425226.1:n.*1581C>G | |
| ENST00000511325.1:n.1267C>G (ACAD9) | ||
| ENST00000511438.5:c.*155G>C (CFAP92) | ENSP00000426217.1:n.*155G>C | |
| ENST00000511526.5:n.1220C>G (ACAD9) | ||
| ENST00000620948.3:c.116C>G (ACAD9) | ENSP00000478191.1:p.Pro39Arg | |
| NM_014049.4:c.1687C>G (ACAD9) | NP_054768.2:p.His563Asp | |
| NR_033426.1:n.2065C>G (ACAD9) | ||
| XM_011512742.1:c.1318C>G (ACAD9) | XP_011511044.1:p.His440Asp | |
| NM_001348520.1:c.*155G>C (CFAP92) | NP_001335449.1:n.*155G>C | |
| NM_001348521.1:c.*155G>C (CFAP92) | NP_001335450.1:n.*155G>C | |
| XM_024453484.1:c.1318C>G (ACAD9) | XP_024309252.1:p.His440Asp | |
| XM_024453485.1:c.1318C>G (ACAD9) | XP_024309253.1:p.His440Asp | |
| XR_427367.3:n.1763C>G (ACAD9) | ||
| NM_014049.5:c.1687C>G (ACAD9) MANE Select | NP_054768.2:p.His563Asp | |
| NM_001348520.2:c.*155G>C (CFAP92) | NP_001335449.1:n.*155G>C | |
| NM_001348521.2:c.*155G>C (CFAP92) | NP_001335450.1:n.*155G>C | |
| NM_001394090.1:c.*155G>C (CFAP92) MANE Select | NP_001381019.1:n.*155G>C | |
| NR_033426.2:n.1935C>G (ACAD9) |