Linked Data
ClinVar Variation Id:
242523
ClinVar RCV Id:
RCV000199949
dbSNP Id:
rs863224845
gnomAD v2:
3-128631430-C-T
gnomAD v4:
3-128912587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128912587C>T , CM000665.2:g.128912587C>T | GRCh38 |
| NC_000003.11:g.128631430C>T , CM000665.1:g.128631430C>T | GRCh37 |
| NC_000003.10:g.130114120C>T | NCBI36 |
| NG_017064.1:g.38098C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645291.3:c.3281-2254G>A (CFAP92) MANE Select | ENSP00000496592.2:n.3281-2254G>A | |
| ENST00000308982.12:c.1846C>T (ACAD9) MANE Select | ENSP00000312618.7:p.Pro616Ser | |
| ENST00000511325.2:n.2523C>T (ACAD9) | ||
| ENST00000637488.2:c.861-2254G>A (CFAP92) | ||
| ENST00000645291.2:c.3281-2254G>A (CFAP92) | ENSP00000496592.2:n.3281-2254G>A | |
| ENST00000679399.1:c.*2017C>T (ACAD9) | ENSP00000505434.1:n.*2017C>T | |
| ENST00000679431.1:c.*1722C>T (ACAD9) | ENSP00000506440.1:n.*1722C>T | |
| ENST00000679613.1:c.*213C>T (ACAD9) | ENSP00000504971.1:n.*213C>T | |
| ENST00000679715.1:c.1477C>T (ACAD9) | ENSP00000506228.1:p.Pro493Ser | |
| ENST00000679824.1:c.*3152C>T (ACAD9) | ENSP00000505516.1:n.*3152C>T | |
| ENST00000679990.1:n.2680C>T (ACAD9) | ||
| ENST00000680636.1:c.*59C>T (ACAD9) | ENSP00000504886.1:n.*59C>T | |
| ENST00000680638.1:n.3891C>T (ACAD9) | ||
| ENST00000680744.1:c.*1199C>T (ACAD9) | ENSP00000505243.1:n.*1199C>T | |
| ENST00000680764.1:c.*3250C>T (ACAD9) | ENSP00000505126.1:n.*3250C>T | |
| ENST00000681319.1:n.2632C>T (ACAD9) | ||
| ENST00000681367.1:c.*63C>T (ACAD9) | ENSP00000505309.1:n.*63C>T | |
| ENST00000681552.1:c.*63C>T (ACAD9) | ENSP00000505699.1:n.*63C>T | |
| ENST00000681583.1:c.1846C>T (ACAD9) | ENSP00000506340.1:p.Pro616Ser | |
| ENST00000681585.1:c.*465C>T (ACAD9) | ENSP00000506316.1:n.*465C>T | |
| ENST00000681784.1:n.3114C>T (ACAD9) | ||
| ENST00000681886.1:c.*1638C>T (ACAD9) | ENSP00000506500.1:n.*1638C>T | |
| ENST00000308982.11:c.1846C>T (ACAD9) | ENSP00000312618.7:p.Pro616Ser | |
| ENST00000505867.5:c.*1646C>T (ACAD9) | ENSP00000425346.1:n.*1646C>T | |
| ENST00000508239.1:c.1685-2254G>A | ENSP00000424951.1:n.1685-2254G>A | |
| ENST00000508971.1:c.1135C>T (ACAD9) | ENSP00000422683.1:p.Pro379Ser | |
| ENST00000511227.5:c.*1740C>T (ACAD9) | ENSP00000425226.1:n.*1740C>T | |
| ENST00000511325.1:n.1426C>T (ACAD9) | ||
| ENST00000511438.5:c.1169-2254G>A (CFAP92) | ENSP00000426217.1:n.1169-2254G>A | |
| ENST00000511526.5:n.1379C>T (ACAD9) | ||
| ENST00000620948.3:c.273C>T (ACAD9) | ENSP00000478191.1:p.Thr91= | |
| NM_014049.4:c.1846C>T (ACAD9) | NP_054768.2:p.Pro616Ser | |
| NR_033426.1:n.2224C>T (ACAD9) | ||
| XM_011512742.1:c.1477C>T (ACAD9) | XP_011511044.1:p.Pro493Ser | |
| XM_011513047.1:c.3398-2254G>A (CFAP92) | XP_011511349.1:n.3398-2254G>A | |
| XM_011513048.1:c.3267-2254G>A (CFAP92) | XP_011511350.1:n.3267-2254G>A | |
| XM_011513049.1:c.3267-2258G>A (CFAP92) | XP_011511351.1:n.3267-2258G>A | |
| XM_011513050.1:c.3323-2254G>A (CFAP92) | XP_011511352.1:n.3323-2254G>A | |
| NM_001348520.1:c.2408-2254G>A (CFAP92) | NP_001335449.1:n.2408-2254G>A | |
| NM_001348521.1:c.2312-2254G>A (CFAP92) | NP_001335450.1:n.2312-2254G>A | |
| XM_011513050.2:c.3377-2254G>A (CFAP92) | XP_011511352.2:n.3377-2254G>A | |
| XM_017006939.2:c.*2368G>A (CFAP92) | XP_016862428.1:n.*2368G>A | |
| XM_017006940.2:c.*2368G>A (CFAP92) | XP_016862429.1:n.*2368G>A | |
| XM_017006941.2:c.*2368G>A (CFAP92) | XP_016862430.1:n.*2368G>A | |
| XM_017006942.2:c.*2368G>A (CFAP92) | XP_016862431.1:n.*2368G>A | |
| XM_017006944.2:c.*2368G>A (CFAP92) | XP_016862433.1:n.*2368G>A | |
| XM_017006945.1:c.3281-2254G>A (CFAP92) | XP_016862434.1:n.3281-2254G>A | |
| XM_017006946.2:c.*2368G>A (CFAP92) | XP_016862435.1:n.*2368G>A | |
| XM_017006947.2:c.5503G>A (CFAP92) | XP_016862436.1:n.5503G>A | |
| XM_017006948.2:c.*2368G>A (CFAP92) | XP_016862437.1:n.*2368G>A | |
| XM_017006950.2:c.*2368G>A (CFAP92) | XP_016862439.1:n.*2368G>A | |
| XM_017006951.2:c.*2368G>A (CFAP92) | XP_016862440.1:n.*2368G>A | |
| XM_017006952.2:c.*2368G>A (CFAP92) | XP_016862441.1:n.*2368G>A | |
| XM_017006953.2:c.*2368G>A (CFAP92) | XP_016862442.1:n.*2368G>A | |
| XM_017006954.1:c.1919-2254G>A (CFAP92) | XP_016862443.1:n.1919-2254G>A | |
| XM_024453484.1:c.1477C>T (ACAD9) | XP_024309252.1:p.Pro493Ser | |
| XM_024453485.1:c.1477C>T (ACAD9) | XP_024309253.1:p.Pro493Ser | |
| XM_024453688.1:c.*2368G>A (CFAP92) | XP_024309456.1:n.*2368G>A | |
| XM_024453689.1:c.*2368G>A (CFAP92) | XP_024309457.1:n.*2368G>A | |
| XR_427367.3:n.1922C>T (ACAD9) | ||
| NM_014049.5:c.1846C>T (ACAD9) MANE Select | NP_054768.2:p.Pro616Ser | |
| NM_001348520.2:c.2408-2254G>A (CFAP92) | NP_001335449.1:n.2408-2254G>A | |
| NM_001348521.2:c.2312-2254G>A (CFAP92) | NP_001335450.1:n.2312-2254G>A | |
| NM_001394090.1:c.3281-2254G>A (CFAP92) MANE Select | NP_001381019.1:n.3281-2254G>A | |
| NR_033426.2:n.2094C>T (ACAD9) |