Linked Data
ClinVar Variation Id:
1641853
ClinVar RCV Id:
RCV002140376
dbSNP Id:
rs768809095
ExAC:
3:128628905 C / T
gnomAD v2:
3-128628905-C-T
gnomAD v3:
3-128910062-C-T
gnomAD v4:
3-128910062-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128910062C>T , CM000665.2:g.128910062C>T | GRCh38 |
| NC_000003.11:g.128628905C>T , CM000665.1:g.128628905C>T | GRCh37 |
| NC_000003.10:g.130111595C>T | NCBI36 |
| NG_017064.1:g.35573C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645291.3:c.*237G>A (CFAP92) MANE Select | ENSP00000496592.2:n.*237G>A | |
| ENST00000308982.12:c.1605C>T (ACAD9) MANE Select | ENSP00000312618.7:p.Asn535= | |
| ENST00000511325.2:n.2282C>T (ACAD9) | ||
| ENST00000645291.2:c.*237G>A (CFAP92) | ENSP00000496592.2:n.*237G>A | |
| ENST00000679399.1:c.*1776C>T (ACAD9) | ENSP00000505434.1:n.*1776C>T | |
| ENST00000679431.1:c.*1481C>T (ACAD9) | ENSP00000506440.1:n.*1481C>T | |
| ENST00000679613.1:c.1605C>T (ACAD9) | ENSP00000504971.1:p.Asn535= | |
| ENST00000679715.1:c.1236C>T (ACAD9) | ENSP00000506228.1:p.Asn412= | |
| ENST00000679824.1:c.*2911C>T (ACAD9) | ENSP00000505516.1:n.*2911C>T | |
| ENST00000679990.1:n.2439C>T (ACAD9) | ||
| ENST00000680636.1:c.1699C>T (ACAD9) | ENSP00000504886.1:p.His567Tyr | |
| ENST00000680638.1:n.1957C>T (ACAD9) | ||
| ENST00000680744.1:c.*958C>T (ACAD9) | ENSP00000505243.1:n.*958C>T | |
| ENST00000680764.1:c.*3009C>T (ACAD9) | ENSP00000505126.1:n.*3009C>T | |
| ENST00000681319.1:n.2391C>T (ACAD9) | ||
| ENST00000681367.1:c.1605C>T (ACAD9) | ENSP00000505309.1:p.Asn535= | |
| ENST00000681552.1:c.1150-2445C>T (ACAD9) | ENSP00000505699.1:n.1150-2445C>T | |
| ENST00000681583.1:c.1605C>T (ACAD9) | ENSP00000506340.1:p.Asn535= | |
| ENST00000681585.1:c.*224C>T (ACAD9) | ENSP00000506316.1:n.*224C>T | |
| ENST00000681784.1:n.2282C>T (ACAD9) | ||
| ENST00000681886.1:c.*1397C>T (ACAD9) | ENSP00000506500.1:n.*1397C>T | |
| ENST00000308982.11:c.1605C>T (ACAD9) | ENSP00000312618.7:p.Asn535= | |
| ENST00000505867.5:c.*1405C>T (ACAD9) | ENSP00000425346.1:n.*1405C>T | |
| ENST00000508239.1:c.*237G>A | ENSP00000424951.1:n.*237G>A | |
| ENST00000508971.1:c.894C>T (ACAD9) | ENSP00000422683.1:p.Asn298= | |
| ENST00000511227.5:c.*1499C>T (ACAD9) | ENSP00000425226.1:n.*1499C>T | |
| ENST00000511325.1:n.1185C>T (ACAD9) | ||
| ENST00000511438.5:c.*237G>A (CFAP92) | ENSP00000426217.1:n.*237G>A | |
| ENST00000511526.5:n.1138C>T (ACAD9) | ||
| ENST00000620948.3:c.34C>T (ACAD9) | ENSP00000478191.1:p.His12Tyr | |
| NM_014049.4:c.1605C>T (ACAD9) | NP_054768.2:p.Asn535= | |
| NR_033426.1:n.1983C>T (ACAD9) | ||
| XM_011512742.1:c.1236C>T (ACAD9) | XP_011511044.1:p.Asn412= | |
| NM_001348520.1:c.*237G>A (CFAP92) | NP_001335449.1:n.*237G>A | |
| NM_001348521.1:c.*237G>A (CFAP92) | NP_001335450.1:n.*237G>A | |
| XM_024453484.1:c.1236C>T (ACAD9) | XP_024309252.1:p.Asn412= | |
| XM_024453485.1:c.1236C>T (ACAD9) | XP_024309253.1:p.Asn412= | |
| XR_427367.3:n.1681C>T (ACAD9) | ||
| NM_014049.5:c.1605C>T (ACAD9) MANE Select | NP_054768.2:p.Asn535= | |
| NM_001348520.2:c.*237G>A (CFAP92) | NP_001335449.1:n.*237G>A | |
| NM_001348521.2:c.*237G>A (CFAP92) | NP_001335450.1:n.*237G>A | |
| NM_001394090.1:c.*237G>A (CFAP92) MANE Select | NP_001381019.1:n.*237G>A | |
| NR_033426.2:n.1853C>T (ACAD9) |