Canonical Allele Identifier: CA354439149
Gene: CFAP92 HGNC NCBI
ACAD9 HGNC NCBI

Linked Data

dbSNP Id: rs1238781871

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128910054G>T , CM000665.2:g.128910054G>T GRCh38
NC_000003.11:g.128628897G>T , CM000665.1:g.128628897G>T GRCh37
NC_000003.10:g.130111587G>T NCBI36
NG_017064.1:g.35565G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645291.3:c.*245C>A (CFAP92) MANE Select ENSP00000496592.2:n.*245C>A
ENST00000308982.12:c.1597G>T (ACAD9) MANE Select ENSP00000312618.7:p.Val533Leu
ENST00000511325.2:n.2274G>T (ACAD9)
ENST00000645291.2:c.*245C>A (CFAP92) ENSP00000496592.2:n.*245C>A
ENST00000679399.1:c.*1768G>T (ACAD9) ENSP00000505434.1:n.*1768G>T
ENST00000679431.1:c.*1473G>T (ACAD9) ENSP00000506440.1:n.*1473G>T
ENST00000679613.1:c.1597G>T (ACAD9) ENSP00000504971.1:p.Val533Leu
ENST00000679715.1:c.1228G>T (ACAD9) ENSP00000506228.1:p.Val410Leu
ENST00000679824.1:c.*2903G>T (ACAD9) ENSP00000505516.1:n.*2903G>T
ENST00000679990.1:n.2431G>T (ACAD9)
ENST00000680636.1:c.1691G>T (ACAD9) ENSP00000504886.1:p.Gly564Val
ENST00000680638.1:n.1949G>T (ACAD9)
ENST00000680744.1:c.*950G>T (ACAD9) ENSP00000505243.1:n.*950G>T
ENST00000680764.1:c.*3001G>T (ACAD9) ENSP00000505126.1:n.*3001G>T
ENST00000681319.1:n.2383G>T (ACAD9)
ENST00000681367.1:c.1597G>T (ACAD9) ENSP00000505309.1:p.Val533Leu
ENST00000681552.1:c.1150-2453G>T (ACAD9) ENSP00000505699.1:n.1150-2453G>T
ENST00000681583.1:c.1597G>T (ACAD9) ENSP00000506340.1:p.Val533Leu
ENST00000681585.1:c.*216G>T (ACAD9) ENSP00000506316.1:n.*216G>T
ENST00000681784.1:n.2274G>T (ACAD9)
ENST00000681886.1:c.*1389G>T (ACAD9) ENSP00000506500.1:n.*1389G>T
ENST00000308982.11:c.1597G>T (ACAD9) ENSP00000312618.7:p.Val533Leu
ENST00000505867.5:c.*1397G>T (ACAD9) ENSP00000425346.1:n.*1397G>T
ENST00000508239.1:c.*245C>A ENSP00000424951.1:n.*245C>A
ENST00000508971.1:c.886G>T (ACAD9) ENSP00000422683.1:p.Val296Leu
ENST00000511227.5:c.*1491G>T (ACAD9) ENSP00000425226.1:n.*1491G>T
ENST00000511325.1:n.1177G>T (ACAD9)
ENST00000511438.5:c.*245C>A (CFAP92) ENSP00000426217.1:n.*245C>A
ENST00000511526.5:n.1130G>T (ACAD9)
ENST00000620948.3:c.26G>T (ACAD9) ENSP00000478191.1:p.Gly9Val
NM_014049.4:c.1597G>T (ACAD9) NP_054768.2:p.Val533Leu
NR_033426.1:n.1975G>T (ACAD9)
XM_011512742.1:c.1228G>T (ACAD9) XP_011511044.1:p.Val410Leu
NM_001348520.1:c.*245C>A (CFAP92) NP_001335449.1:n.*245C>A
NM_001348521.1:c.*245C>A (CFAP92) NP_001335450.1:n.*245C>A
XM_024453484.1:c.1228G>T (ACAD9) XP_024309252.1:p.Val410Leu
XM_024453485.1:c.1228G>T (ACAD9) XP_024309253.1:p.Val410Leu
XR_427367.3:n.1673G>T (ACAD9)
NM_014049.5:c.1597G>T (ACAD9) MANE Select NP_054768.2:p.Val533Leu
NM_001348520.2:c.*245C>A (CFAP92) NP_001335449.1:n.*245C>A
NM_001348521.2:c.*245C>A (CFAP92) NP_001335450.1:n.*245C>A
NM_001394090.1:c.*245C>A (CFAP92) MANE Select NP_001381019.1:n.*245C>A
NR_033426.2:n.1845G>T (ACAD9)