Canonical Allele Identifier: CA397149243

Gene: ACSF3

Linked Data

• dbSNP Id: rs1201797511
• gnomAD v2: 16-89212456-A-G
• gnomAD v3: 16-89146048-A-G
• gnomAD v4: 16-89146048-A-G
• COSMIC: COSM6362579
• MyVariant Identifiers: chr16:g.89212456A>G (hg19) ; chr16:g.89146048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146048A>G , CM000678.2:g.89146048A>G	GRCh38
NC_000016.9:g.89212456A>G , CM000678.1:g.89212456A>G	GRCh37
NC_000016.8:g.87739957A>G	NCBI36
NG_031961.1:g.57240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1612A>G	ENSP00000320646.4:p.Arg538Gly
ENST00000614302.5:c.1612A>G MANE Select	ENSP00000479130.1:p.Arg538Gly
ENST00000649953.1:c.1822A>G	ENSP00000497456.1:p.Arg608Gly
ENST00000317447.8:c.1612A>G	ENSP00000320646.4:p.Arg538Gly
ENST00000378345.8:c.817A>G	ENSP00000367596.4:p.Arg273Gly
ENST00000406948.7:c.1612A>G	ENSP00000384627.3:p.Arg538Gly
ENST00000535176.1:c.99A>G
ENST00000537116.5:n.738A>G
ENST00000537155.1:n.352A>G
ENST00000542688.5:c.*356A>G	ENSP00000446281.1:n.*356A>G
ENST00000614302.4:c.1612A>G	ENSP00000479130.1:p.Arg538Gly
NM_001127214.3:c.1612A>G	NP_001120686.1:p.Arg538Gly
NM_001243279.2:c.1612A>G	NP_001230208.1:p.Arg538Gly
NM_001284316.1:c.817A>G	NP_001271245.1:p.Arg273Gly
NM_174917.4:c.1612A>G	NP_777577.2:p.Arg538Gly
NR_045667.2:n.738A>G
NR_104293.1:n.2046A>G
XM_005256293.1:c.1612A>G	XP_005256350.1:p.Arg538Gly
XM_011522942.1:c.1612A>G	XP_011521244.1:p.Arg538Gly
XM_011522943.1:c.1612A>G	XP_011521245.1:p.Arg538Gly
XR_933239.1:n.2053A>G
XR_933240.1:n.2050A>G
XR_933241.1:n.1807A>G
NR_147928.1:n.2090A>G
NR_147929.1:n.1844A>G
XM_005256293.2:c.1612A>G	XP_005256350.1:p.Arg538Gly
XM_017023018.1:c.1612A>G	XP_016878507.1:p.Arg538Gly
XM_017023019.1:c.1612A>G	XP_016878508.1:p.Arg538Gly
XM_017023020.2:c.-3493A>G	XP_016878509.1:n.-3493A>G
XM_017023022.1:c.745A>G	XP_016878511.1:p.Arg249Gly
XM_024450186.1:c.817A>G	XP_024305954.1:p.Arg273Gly
XM_024450187.1:c.817A>G	XP_024305955.1:p.Arg273Gly
XR_001751864.2:n.1859A>G
XR_001751865.1:n.1806A>G
XR_933240.3:n.2049A>G
NM_001127214.4:c.1612A>G	NP_001120686.1:p.Arg538Gly
NM_001243279.3:c.1612A>G MANE Select	NP_001230208.1:p.Arg538Gly
NM_001284316.2:c.817A>G	NP_001271245.1:p.Arg273Gly
NM_174917.5:c.1612A>G	NP_777577.2:p.Arg538Gly
NR_104293.2:n.2003A>G
NR_147928.2:n.2047A>G
NR_147929.2:n.1801A>G