Canonical Allele Identifier: CA8238370

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1323847
• ClinVar RCV Id: RCV001785880 ; RCV002282576
• dbSNP Id: rs140328142
• ExAC: 16:89220557 G / A
• gnomAD v2: 16-89220557-G-A
• gnomAD v3: 16-89154149-G-A
• gnomAD v4: 16-89154149-G-A
• MyVariant Identifiers: chr16:g.89220557G>A (hg19) ; chr16:g.89154149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154149G>A , CM000678.2:g.89154149G>A	GRCh38
NC_000016.9:g.89220557G>A , CM000678.1:g.89220557G>A	GRCh37
NC_000016.8:g.87748058G>A	NCBI36
NG_031961.1:g.65341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1673G>A	ENSP00000320646.4:p.Arg558Gln
ENST00000614302.5:c.1673G>A MANE Select	ENSP00000479130.1:p.Arg558Gln
ENST00000649953.1:c.1883G>A	ENSP00000497456.1:p.Arg628Gln
ENST00000317447.8:c.1673G>A	ENSP00000320646.4:p.Arg558Gln
ENST00000378345.8:c.878G>A	ENSP00000367596.4:p.Arg293Gln
ENST00000393145.5:n.6583G>A
ENST00000406948.7:c.1673G>A	ENSP00000384627.3:p.Arg558Gln
ENST00000537116.5:n.799G>A
ENST00000537155.1:n.413G>A
ENST00000542688.5:c.*417G>A	ENSP00000446281.1:n.*417G>A
ENST00000614302.4:c.1673G>A	ENSP00000479130.1:p.Arg558Gln
NM_001127214.3:c.1673G>A	NP_001120686.1:p.Arg558Gln
NM_001243279.2:c.1673G>A	NP_001230208.1:p.Arg558Gln
NM_001284316.1:c.878G>A	NP_001271245.1:p.Arg293Gln
NM_174917.4:c.1673G>A	NP_777577.2:p.Arg558Gln
NR_045667.2:n.799G>A
NR_104293.1:n.2107G>A
XR_933239.1:n.2114G>A
XR_933240.1:n.2111G>A
XR_933241.1:n.1868G>A
NR_147928.1:n.2151G>A
NR_147929.1:n.1905G>A
XM_017023020.2:c.-3432G>A	XP_016878509.1:n.-3432G>A
XM_024450187.1:c.878G>A	XP_024305955.1:p.Arg293Gln
XR_001751864.2:n.1920G>A
XR_933240.3:n.2110G>A
NM_001127214.4:c.1673G>A	NP_001120686.1:p.Arg558Gln
NM_001243279.3:c.1673G>A MANE Select	NP_001230208.1:p.Arg558Gln
NM_001284316.2:c.878G>A	NP_001271245.1:p.Arg293Gln
NM_174917.5:c.1673G>A	NP_777577.2:p.Arg558Gln
NR_104293.2:n.2064G>A
NR_147928.2:n.2108G>A
NR_147929.2:n.1862G>A