Canonical Allele Identifier: CA8238213

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 753738
• ClinVar RCV Id: RCV000930999
• dbSNP Id: rs200971130
• ExAC: 16:89211702 A / G
• gnomAD v2: 16-89211702-A-G
• gnomAD v3: 16-89145294-A-G
• gnomAD v4: 16-89145294-A-G
• MyVariant Identifiers: chr16:g.89211702A>G (hg19) ; chr16:g.89145294A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145294A>G , CM000678.2:g.89145294A>G	GRCh38
NC_000016.9:g.89211702A>G , CM000678.1:g.89211702A>G	GRCh37
NC_000016.8:g.87739203A>G	NCBI36
NG_031961.1:g.56486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1394A>G	ENSP00000320646.4:p.Gln465Arg
ENST00000614302.5:c.1394A>G MANE Select	ENSP00000479130.1:p.Gln465Arg
ENST00000649953.1:c.1604A>G	ENSP00000497456.1:p.Gln535Arg
ENST00000317447.8:c.1394A>G	ENSP00000320646.4:p.Gln465Arg
ENST00000378345.8:c.599A>G	ENSP00000367596.4:p.Gln200Arg
ENST00000406948.7:c.1394A>G	ENSP00000384627.3:p.Gln465Arg
ENST00000537116.5:n.520A>G
ENST00000537155.1:n.134A>G
ENST00000542688.5:c.*138A>G	ENSP00000446281.1:n.*138A>G
ENST00000544543.5:c.599A>G	ENSP00000442781.1:p.Gln200Arg
ENST00000562204.1:n.367A>G
ENST00000614302.4:c.1394A>G	ENSP00000479130.1:p.Gln465Arg
NM_001127214.3:c.1394A>G	NP_001120686.1:p.Gln465Arg
NM_001243279.2:c.1394A>G	NP_001230208.1:p.Gln465Arg
NM_001284316.1:c.599A>G	NP_001271245.1:p.Gln200Arg
NM_174917.4:c.1394A>G	NP_777577.2:p.Gln465Arg
NR_045667.2:n.520A>G
NR_104293.1:n.1828A>G
XM_005256293.1:c.1394A>G	XP_005256350.1:p.Gln465Arg
XM_011522942.1:c.1394A>G	XP_011521244.1:p.Gln465Arg
XM_011522943.1:c.1394A>G	XP_011521245.1:p.Gln465Arg
XR_933239.1:n.1835A>G
XR_933240.1:n.1832A>G
XR_933241.1:n.1589A>G
NR_147928.1:n.1872A>G
NR_147929.1:n.1626A>G
XM_005256293.2:c.1394A>G	XP_005256350.1:p.Gln465Arg
XM_017023018.1:c.1394A>G	XP_016878507.1:p.Gln465Arg
XM_017023019.1:c.1394A>G	XP_016878508.1:p.Gln465Arg
XM_017023020.2:c.-3711A>G	XP_016878509.1:n.-3711A>G
XM_017023022.1:c.527A>G	XP_016878511.1:p.Gln176Arg
XM_024450186.1:c.599A>G	XP_024305954.1:p.Gln200Arg
XM_024450187.1:c.599A>G	XP_024305955.1:p.Gln200Arg
XR_001751864.2:n.1641A>G
XR_001751865.1:n.1588A>G
XR_933240.3:n.1831A>G
NM_001127214.4:c.1394A>G	NP_001120686.1:p.Gln465Arg
NM_001243279.3:c.1394A>G MANE Select	NP_001230208.1:p.Gln465Arg
NM_001284316.2:c.599A>G	NP_001271245.1:p.Gln200Arg
NM_174917.5:c.1394A>G	NP_777577.2:p.Gln465Arg
NR_104293.2:n.1785A>G
NR_147928.2:n.1829A>G
NR_147929.2:n.1583A>G