Canonical Allele Identifier: CA435765500
Gene: CFAP92 HGNC NCBI
ACAD9 HGNC NCBI

Linked Data

COSMIC: COSM236924
MyVariant Identifiers: chr3:g.128631343T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128912500T>G , CM000665.2:g.128912500T>G GRCh38
NC_000003.11:g.128631343T>G , CM000665.1:g.128631343T>G GRCh37
NC_000003.10:g.130114033T>G NCBI36
NG_017064.1:g.38011T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645291.3:c.3281-2167A>C (CFAP92) MANE Select ENSP00000496592.2:n.3281-2167A>C
ENST00000308982.12:c.1766-7T>G (ACAD9) MANE Select ENSP00000312618.7:n.1766-7T>G
ENST00000511325.2:n.2443-7T>G (ACAD9)
ENST00000637488.2:c.861-2167A>C (CFAP92)
ENST00000645291.2:c.3281-2167A>C (CFAP92) ENSP00000496592.2:n.3281-2167A>C
ENST00000679399.1:c.*1937-7T>G (ACAD9) ENSP00000505434.1:n.*1937-7T>G
ENST00000679431.1:c.*1642-7T>G (ACAD9) ENSP00000506440.1:n.*1642-7T>G
ENST00000679613.1:c.*133-7T>G (ACAD9) ENSP00000504971.1:n.*133-7T>G
ENST00000679715.1:c.1397-7T>G (ACAD9) ENSP00000506228.1:n.1397-7T>G
ENST00000679824.1:c.*3072-7T>G (ACAD9) ENSP00000505516.1:n.*3072-7T>G
ENST00000679990.1:n.2600-7T>G (ACAD9)
ENST00000680636.1:c.1860-7T>G (ACAD9) ENSP00000504886.1:n.1860-7T>G
ENST00000680638.1:n.3804T>G (ACAD9)
ENST00000680744.1:c.*1119-7T>G (ACAD9) ENSP00000505243.1:n.*1119-7T>G
ENST00000680764.1:c.*3170-7T>G (ACAD9) ENSP00000505126.1:n.*3170-7T>G
ENST00000681319.1:n.2552-7T>G (ACAD9)
ENST00000681367.1:c.1915-7T>G (ACAD9) ENSP00000505309.1:n.1915-7T>G
ENST00000681552.1:c.1150-7T>G (ACAD9) ENSP00000505699.1:n.1150-7T>G
ENST00000681583.1:c.1766-7T>G (ACAD9) ENSP00000506340.1:n.1766-7T>G
ENST00000681585.1:c.*385-7T>G (ACAD9) ENSP00000506316.1:n.*385-7T>G
ENST00000681784.1:n.3034-7T>G (ACAD9)
ENST00000681886.1:c.*1558-7T>G (ACAD9) ENSP00000506500.1:n.*1558-7T>G
ENST00000308982.11:c.1766-7T>G (ACAD9) ENSP00000312618.7:n.1766-7T>G
ENST00000505867.5:c.*1566-7T>G (ACAD9) ENSP00000425346.1:n.*1566-7T>G
ENST00000508239.1:c.1685-2167A>C ENSP00000424951.1:n.1685-2167A>C
ENST00000508971.1:c.1055-7T>G (ACAD9) ENSP00000422683.1:n.1055-7T>G
ENST00000511227.5:c.*1660-7T>G (ACAD9) ENSP00000425226.1:n.*1660-7T>G
ENST00000511325.1:n.1346-7T>G (ACAD9)
ENST00000511438.5:c.1169-2167A>C (CFAP92) ENSP00000426217.1:n.1169-2167A>C
ENST00000511526.5:n.1299-7T>G (ACAD9)
ENST00000620948.3:c.195-7T>G (ACAD9) ENSP00000478191.1:n.195-7T>G
NM_014049.4:c.1766-7T>G (ACAD9) NP_054768.2:n.1766-7T>G
NR_033426.1:n.2144-7T>G (ACAD9)
XM_011512742.1:c.1397-7T>G (ACAD9) XP_011511044.1:n.1397-7T>G
XM_011513047.1:c.3398-2167A>C (CFAP92) XP_011511349.1:n.3398-2167A>C
XM_011513048.1:c.3267-2167A>C (CFAP92) XP_011511350.1:n.3267-2167A>C
XM_011513049.1:c.3267-2171A>C (CFAP92) XP_011511351.1:n.3267-2171A>C
XM_011513050.1:c.3323-2167A>C (CFAP92) XP_011511352.1:n.3323-2167A>C
NM_001348520.1:c.2408-2167A>C (CFAP92) NP_001335449.1:n.2408-2167A>C
NM_001348521.1:c.2312-2167A>C (CFAP92) NP_001335450.1:n.2312-2167A>C
XM_011513050.2:c.3377-2167A>C (CFAP92) XP_011511352.2:n.3377-2167A>C
XM_017006939.2:c.*2455A>C (CFAP92) XP_016862428.1:n.*2455A>C
XM_017006940.2:c.*2455A>C (CFAP92) XP_016862429.1:n.*2455A>C
XM_017006941.2:c.*2455A>C (CFAP92) XP_016862430.1:n.*2455A>C
XM_017006942.2:c.*2455A>C (CFAP92) XP_016862431.1:n.*2455A>C
XM_017006944.2:c.*2455A>C (CFAP92) XP_016862433.1:n.*2455A>C
XM_017006945.1:c.3281-2167A>C (CFAP92) XP_016862434.1:n.3281-2167A>C
XM_017006946.2:c.*2455A>C (CFAP92) XP_016862435.1:n.*2455A>C
XM_017006947.2:c.5590A>C (CFAP92) XP_016862436.1:n.5590A>C
XM_017006948.2:c.*2455A>C (CFAP92) XP_016862437.1:n.*2455A>C
XM_017006950.2:c.*2455A>C (CFAP92) XP_016862439.1:n.*2455A>C
XM_017006951.2:c.*2455A>C (CFAP92) XP_016862440.1:n.*2455A>C
XM_017006952.2:c.*2455A>C (CFAP92) XP_016862441.1:n.*2455A>C
XM_017006953.2:c.*2455A>C (CFAP92) XP_016862442.1:n.*2455A>C
XM_017006954.1:c.1919-2167A>C (CFAP92) XP_016862443.1:n.1919-2167A>C
XM_024453484.1:c.1397-7T>G (ACAD9) XP_024309252.1:n.1397-7T>G
XM_024453485.1:c.1397-7T>G (ACAD9) XP_024309253.1:n.1397-7T>G
XM_024453688.1:c.*2455A>C (CFAP92) XP_024309456.1:n.*2455A>C
XM_024453689.1:c.*2455A>C (CFAP92) XP_024309457.1:n.*2455A>C
XR_427367.3:n.1842-7T>G (ACAD9)
NM_014049.5:c.1766-7T>G (ACAD9) MANE Select NP_054768.2:n.1766-7T>G
NM_001348520.2:c.2408-2167A>C (CFAP92) NP_001335449.1:n.2408-2167A>C
NM_001348521.2:c.2312-2167A>C (CFAP92) NP_001335450.1:n.2312-2167A>C
NM_001394090.1:c.3281-2167A>C (CFAP92) MANE Select NP_001381019.1:n.3281-2167A>C
NR_033426.2:n.2014-7T>G (ACAD9)