Canonical Allele Identifier: CA2601603

Gene: CFAP92 ACAD9

Linked Data

• dbSNP Id: rs761865368
• ExAC: 3:128628823 T / C
• gnomAD v2: 3-128628823-T-C
• gnomAD v4: 3-128909980-T-C
• MyVariant Identifiers: chr3:g.128628823T>C (hg19) ; chr3:g.128909980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909980T>C , CM000665.2:g.128909980T>C	GRCh38
NC_000003.11:g.128628823T>C , CM000665.1:g.128628823T>C	GRCh37
NC_000003.10:g.130111513T>C	NCBI36
NG_017064.1:g.35491T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645291.3:c.*319A>G (CFAP92) MANE Select	ENSP00000496592.2:n.*319A>G
ENST00000308982.12:c.1564-41T>C (ACAD9) MANE Select	ENSP00000312618.7:n.1564-41T>C
ENST00000511325.2:n.2200T>C (ACAD9)
ENST00000645291.2:c.*319A>G (CFAP92)	ENSP00000496592.2:n.*319A>G
ENST00000679399.1:c.*1735-41T>C (ACAD9)	ENSP00000505434.1:n.*1735-41T>C
ENST00000679431.1:c.*1440-41T>C (ACAD9)	ENSP00000506440.1:n.*1440-41T>C
ENST00000679613.1:c.1564-41T>C (ACAD9)	ENSP00000504971.1:n.1564-41T>C
ENST00000679715.1:c.1195-41T>C (ACAD9)	ENSP00000506228.1:n.1195-41T>C
ENST00000679824.1:c.*2870-41T>C (ACAD9)	ENSP00000505516.1:n.*2870-41T>C
ENST00000679990.1:n.2357T>C (ACAD9)
ENST00000680636.1:c.1617T>C (ACAD9)	ENSP00000504886.1:p.Gly539=
ENST00000680638.1:n.1875T>C (ACAD9)
ENST00000680744.1:c.*917-41T>C (ACAD9)	ENSP00000505243.1:n.*917-41T>C
ENST00000680764.1:c.*2968-41T>C (ACAD9)	ENSP00000505126.1:n.*2968-41T>C
ENST00000681319.1:n.2350-41T>C (ACAD9)
ENST00000681367.1:c.1564-41T>C (ACAD9)	ENSP00000505309.1:n.1564-41T>C
ENST00000681552.1:c.1150-2527T>C (ACAD9)	ENSP00000505699.1:n.1150-2527T>C
ENST00000681583.1:c.1564-41T>C (ACAD9)	ENSP00000506340.1:n.1564-41T>C
ENST00000681585.1:c.*183-41T>C (ACAD9)	ENSP00000506316.1:n.*183-41T>C
ENST00000681784.1:n.2200T>C (ACAD9)
ENST00000681886.1:c.*1315T>C (ACAD9)	ENSP00000506500.1:n.*1315T>C
ENST00000308982.11:c.1564-41T>C (ACAD9)	ENSP00000312618.7:n.1564-41T>C
ENST00000505867.5:c.*1364-41T>C (ACAD9)	ENSP00000425346.1:n.*1364-41T>C
ENST00000508239.1:c.*319A>G	ENSP00000424951.1:n.*319A>G
ENST00000508971.1:c.853-41T>C (ACAD9)	ENSP00000422683.1:n.853-41T>C
ENST00000511227.5:c.*1458-41T>C (ACAD9)	ENSP00000425226.1:n.*1458-41T>C
ENST00000511325.1:n.1103T>C (ACAD9)
ENST00000511438.5:c.*319A>G (CFAP92)	ENSP00000426217.1:n.*319A>G
ENST00000511526.5:n.1097-41T>C (ACAD9)
NM_014049.4:c.1564-41T>C (ACAD9)	NP_054768.2:n.1564-41T>C
NR_033426.1:n.1942-41T>C (ACAD9)
XM_011512742.1:c.1195-41T>C (ACAD9)	XP_011511044.1:n.1195-41T>C
NM_001348520.1:c.*319A>G (CFAP92)	NP_001335449.1:n.*319A>G
NM_001348521.1:c.*319A>G (CFAP92)	NP_001335450.1:n.*319A>G
XM_024453484.1:c.1195-41T>C (ACAD9)	XP_024309252.1:n.1195-41T>C
XM_024453485.1:c.1195-41T>C (ACAD9)	XP_024309253.1:n.1195-41T>C
XR_427367.3:n.1640-41T>C (ACAD9)
NM_014049.5:c.1564-41T>C (ACAD9) MANE Select	NP_054768.2:n.1564-41T>C
NM_001348520.2:c.*319A>G (CFAP92)	NP_001335449.1:n.*319A>G
NM_001348521.2:c.*319A>G (CFAP92)	NP_001335450.1:n.*319A>G
NM_001394090.1:c.*319A>G (CFAP92) MANE Select	NP_001381019.1:n.*319A>G
NR_033426.2:n.1812-41T>C (ACAD9)