Canonical Allele Identifier: CA354441766

Gene: CFAP92 ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128631431C>A (hg19) ; chr3:g.128912588C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128912588C>A , CM000665.2:g.128912588C>A	GRCh38
NC_000003.11:g.128631431C>A , CM000665.1:g.128631431C>A	GRCh37
NC_000003.10:g.130114121C>A	NCBI36
NG_017064.1:g.38099C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645291.3:c.3281-2255G>T (CFAP92) MANE Select	ENSP00000496592.2:n.3281-2255G>T
ENST00000308982.12:c.1847C>A (ACAD9) MANE Select	ENSP00000312618.7:p.Pro616His
ENST00000511325.2:n.2524C>A (ACAD9)
ENST00000637488.2:c.861-2255G>T (CFAP92)
ENST00000645291.2:c.3281-2255G>T (CFAP92)	ENSP00000496592.2:n.3281-2255G>T
ENST00000679399.1:c.*2018C>A (ACAD9)	ENSP00000505434.1:n.*2018C>A
ENST00000679431.1:c.*1723C>A (ACAD9)	ENSP00000506440.1:n.*1723C>A
ENST00000679613.1:c.*214C>A (ACAD9)	ENSP00000504971.1:n.*214C>A
ENST00000679715.1:c.1478C>A (ACAD9)	ENSP00000506228.1:p.Pro493His
ENST00000679824.1:c.*3153C>A (ACAD9)	ENSP00000505516.1:n.*3153C>A
ENST00000679990.1:n.2681C>A (ACAD9)
ENST00000680636.1:c.*60C>A (ACAD9)	ENSP00000504886.1:n.*60C>A
ENST00000680638.1:n.3892C>A (ACAD9)
ENST00000680744.1:c.*1200C>A (ACAD9)	ENSP00000505243.1:n.*1200C>A
ENST00000680764.1:c.*3251C>A (ACAD9)	ENSP00000505126.1:n.*3251C>A
ENST00000681319.1:n.2633C>A (ACAD9)
ENST00000681367.1:c.*64C>A (ACAD9)	ENSP00000505309.1:n.*64C>A
ENST00000681552.1:c.*64C>A (ACAD9)	ENSP00000505699.1:n.*64C>A
ENST00000681583.1:c.1847C>A (ACAD9)	ENSP00000506340.1:p.Pro616His
ENST00000681585.1:c.*466C>A (ACAD9)	ENSP00000506316.1:n.*466C>A
ENST00000681784.1:n.3115C>A (ACAD9)
ENST00000681886.1:c.*1639C>A (ACAD9)	ENSP00000506500.1:n.*1639C>A
ENST00000308982.11:c.1847C>A (ACAD9)	ENSP00000312618.7:p.Pro616His
ENST00000505867.5:c.*1647C>A (ACAD9)	ENSP00000425346.1:n.*1647C>A
ENST00000508239.1:c.1685-2255G>T	ENSP00000424951.1:n.1685-2255G>T
ENST00000508971.1:c.1136C>A (ACAD9)	ENSP00000422683.1:p.Pro379His
ENST00000511227.5:c.*1741C>A (ACAD9)	ENSP00000425226.1:n.*1741C>A
ENST00000511325.1:n.1427C>A (ACAD9)
ENST00000511438.5:c.1169-2255G>T (CFAP92)	ENSP00000426217.1:n.1169-2255G>T
ENST00000511526.5:n.1380C>A (ACAD9)
ENST00000620948.3:c.274C>A (ACAD9)	ENSP00000478191.1:p.Leu92Ile
NM_014049.4:c.1847C>A (ACAD9)	NP_054768.2:p.Pro616His
NR_033426.1:n.2225C>A (ACAD9)
XM_011512742.1:c.1478C>A (ACAD9)	XP_011511044.1:p.Pro493His
XM_011513047.1:c.3398-2255G>T (CFAP92)	XP_011511349.1:n.3398-2255G>T
XM_011513048.1:c.3267-2255G>T (CFAP92)	XP_011511350.1:n.3267-2255G>T
XM_011513049.1:c.3267-2259G>T (CFAP92)	XP_011511351.1:n.3267-2259G>T
XM_011513050.1:c.3323-2255G>T (CFAP92)	XP_011511352.1:n.3323-2255G>T
NM_001348520.1:c.2408-2255G>T (CFAP92)	NP_001335449.1:n.2408-2255G>T
NM_001348521.1:c.2312-2255G>T (CFAP92)	NP_001335450.1:n.2312-2255G>T
XM_011513050.2:c.3377-2255G>T (CFAP92)	XP_011511352.2:n.3377-2255G>T
XM_017006939.2:c.*2367G>T (CFAP92)	XP_016862428.1:n.*2367G>T
XM_017006940.2:c.*2367G>T (CFAP92)	XP_016862429.1:n.*2367G>T
XM_017006941.2:c.*2367G>T (CFAP92)	XP_016862430.1:n.*2367G>T
XM_017006942.2:c.*2367G>T (CFAP92)	XP_016862431.1:n.*2367G>T
XM_017006944.2:c.*2367G>T (CFAP92)	XP_016862433.1:n.*2367G>T
XM_017006945.1:c.3281-2255G>T (CFAP92)	XP_016862434.1:n.3281-2255G>T
XM_017006946.2:c.*2367G>T (CFAP92)	XP_016862435.1:n.*2367G>T
XM_017006947.2:c.5502G>T (CFAP92)	XP_016862436.1:n.5502G>T
XM_017006948.2:c.*2367G>T (CFAP92)	XP_016862437.1:n.*2367G>T
XM_017006950.2:c.*2367G>T (CFAP92)	XP_016862439.1:n.*2367G>T
XM_017006951.2:c.*2367G>T (CFAP92)	XP_016862440.1:n.*2367G>T
XM_017006952.2:c.*2367G>T (CFAP92)	XP_016862441.1:n.*2367G>T
XM_017006953.2:c.*2367G>T (CFAP92)	XP_016862442.1:n.*2367G>T
XM_017006954.1:c.1919-2255G>T (CFAP92)	XP_016862443.1:n.1919-2255G>T
XM_024453484.1:c.1478C>A (ACAD9)	XP_024309252.1:p.Pro493His
XM_024453485.1:c.1478C>A (ACAD9)	XP_024309253.1:p.Pro493His
XM_024453688.1:c.*2367G>T (CFAP92)	XP_024309456.1:n.*2367G>T
XM_024453689.1:c.*2367G>T (CFAP92)	XP_024309457.1:n.*2367G>T
XR_427367.3:n.1923C>A (ACAD9)
NM_014049.5:c.1847C>A (ACAD9) MANE Select	NP_054768.2:p.Pro616His
NM_001348520.2:c.2408-2255G>T (CFAP92)	NP_001335449.1:n.2408-2255G>T
NM_001348521.2:c.2312-2255G>T (CFAP92)	NP_001335450.1:n.2312-2255G>T
NM_001394090.1:c.3281-2255G>T (CFAP92) MANE Select	NP_001381019.1:n.3281-2255G>T
NR_033426.2:n.2095C>A (ACAD9)