Canonical Allele Identifier: CA8238357

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 2536715
• ClinVar RCV Id: RCV003271164
• dbSNP Id: rs531823925
• ExAC: 16:89220509 C / T
• gnomAD v2: 16-89220509-C-T
• gnomAD v3: 16-89154101-C-T
• gnomAD v4: 16-89154101-C-T
• MyVariant Identifiers: chr16:g.89220509C>T (hg19) ; chr16:g.89220509_89220515delinsTCCCGTA (hg19) ; chr16:g.89154101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154101C>T , CM000678.2:g.89154101C>T	GRCh38
NC_000016.9:g.89220509C>T , CM000678.1:g.89220509C>T	GRCh37
NC_000016.8:g.87748010C>T	NCBI36
NG_031961.1:g.65293C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1625C>T	ENSP00000320646.4:p.Ala542Val
ENST00000614302.5:c.1625C>T MANE Select	ENSP00000479130.1:p.Ala542Val
ENST00000649953.1:c.1835C>T	ENSP00000497456.1:p.Ala612Val
ENST00000317447.8:c.1625C>T	ENSP00000320646.4:p.Ala542Val
ENST00000378345.8:c.830C>T	ENSP00000367596.4:p.Ala277Val
ENST00000393145.5:n.6535C>T
ENST00000406948.7:c.1625C>T	ENSP00000384627.3:p.Ala542Val
ENST00000537116.5:n.751C>T
ENST00000537155.1:n.365C>T
ENST00000542688.5:c.*369C>T	ENSP00000446281.1:n.*369C>T
ENST00000614302.4:c.1625C>T	ENSP00000479130.1:p.Ala542Val
NM_001127214.3:c.1625C>T	NP_001120686.1:p.Ala542Val
NM_001243279.2:c.1625C>T	NP_001230208.1:p.Ala542Val
NM_001284316.1:c.830C>T	NP_001271245.1:p.Ala277Val
NM_174917.4:c.1625C>T	NP_777577.2:p.Ala542Val
NR_045667.2:n.751C>T
NR_104293.1:n.2059C>T
XR_933239.1:n.2066C>T
XR_933240.1:n.2063C>T
XR_933241.1:n.1820C>T
NR_147928.1:n.2103C>T
NR_147929.1:n.1857C>T
XM_017023020.2:c.-3480C>T	XP_016878509.1:n.-3480C>T
XM_024450187.1:c.830C>T	XP_024305955.1:p.Ala277Val
XR_001751864.2:n.1872C>T
XR_933240.3:n.2062C>T
NM_001127214.4:c.1625C>T	NP_001120686.1:p.Ala542Val
NM_001243279.3:c.1625C>T MANE Select	NP_001230208.1:p.Ala542Val
NM_001284316.2:c.830C>T	NP_001271245.1:p.Ala277Val
NM_174917.5:c.1625C>T	NP_777577.2:p.Ala542Val
NR_104293.2:n.2016C>T
NR_147928.2:n.2060C>T
NR_147929.2:n.1814C>T