Canonical Allele Identifier: CA8238359

Gene: ACSF3

Linked Data

• dbSNP Id: rs767244317
• ExAC: 16:89220512 C / G
• gnomAD v2: 16-89220512-C-G
• gnomAD v3: 16-89154104-C-G
• gnomAD v4: 16-89154104-C-G
• COSMIC: COSM1479172
• MyVariant Identifiers: chr16:g.89220512C>G (hg19) ; chr16:g.89154104C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154104C>G , CM000678.2:g.89154104C>G	GRCh38
NC_000016.9:g.89220512C>G , CM000678.1:g.89220512C>G	GRCh37
NC_000016.8:g.87748013C>G	NCBI36
NG_031961.1:g.65296C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1628C>G	ENSP00000320646.4:p.Pro543Arg
ENST00000614302.5:c.1628C>G MANE Select	ENSP00000479130.1:p.Pro543Arg
ENST00000649953.1:c.1838C>G	ENSP00000497456.1:p.Pro613Arg
ENST00000317447.8:c.1628C>G	ENSP00000320646.4:p.Pro543Arg
ENST00000378345.8:c.833C>G	ENSP00000367596.4:p.Pro278Arg
ENST00000393145.5:n.6538C>G
ENST00000406948.7:c.1628C>G	ENSP00000384627.3:p.Pro543Arg
ENST00000537116.5:n.754C>G
ENST00000537155.1:n.368C>G
ENST00000542688.5:c.*372C>G	ENSP00000446281.1:n.*372C>G
ENST00000614302.4:c.1628C>G	ENSP00000479130.1:p.Pro543Arg
NM_001127214.3:c.1628C>G	NP_001120686.1:p.Pro543Arg
NM_001243279.2:c.1628C>G	NP_001230208.1:p.Pro543Arg
NM_001284316.1:c.833C>G	NP_001271245.1:p.Pro278Arg
NM_174917.4:c.1628C>G	NP_777577.2:p.Pro543Arg
NR_045667.2:n.754C>G
NR_104293.1:n.2062C>G
XR_933239.1:n.2069C>G
XR_933240.1:n.2066C>G
XR_933241.1:n.1823C>G
NR_147928.1:n.2106C>G
NR_147929.1:n.1860C>G
XM_017023020.2:c.-3477C>G	XP_016878509.1:n.-3477C>G
XM_024450187.1:c.833C>G	XP_024305955.1:p.Pro278Arg
XR_001751864.2:n.1875C>G
XR_933240.3:n.2065C>G
NM_001127214.4:c.1628C>G	NP_001120686.1:p.Pro543Arg
NM_001243279.3:c.1628C>G MANE Select	NP_001230208.1:p.Pro543Arg
NM_001284316.2:c.833C>G	NP_001271245.1:p.Pro278Arg
NM_174917.5:c.1628C>G	NP_777577.2:p.Pro543Arg
NR_104293.2:n.2019C>G
NR_147928.2:n.2063C>G
NR_147929.2:n.1817C>G