Canonical Allele Identifier: CA397150884

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1512367
• ClinVar RCV Id: RCV002017081
• dbSNP Id: rs1448355025
• gnomAD v2: 16-89220595-A-G
• gnomAD v4: 16-89154187-A-G
• MyVariant Identifiers: chr16:g.89220595A>G (hg19) ; chr16:g.89154187A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154187A>G , CM000678.2:g.89154187A>G	GRCh38
NC_000016.9:g.89220595A>G , CM000678.1:g.89220595A>G	GRCh37
NC_000016.8:g.87748096A>G	NCBI36
NG_031961.1:g.65379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1711A>G	ENSP00000320646.4:p.Arg571Gly
ENST00000614302.5:c.1711A>G MANE Select	ENSP00000479130.1:p.Arg571Gly
ENST00000649953.1:c.1921A>G	ENSP00000497456.1:p.Arg641Gly
ENST00000317447.8:c.1711A>G	ENSP00000320646.4:p.Arg571Gly
ENST00000378345.8:c.916A>G	ENSP00000367596.4:p.Arg306Gly
ENST00000393145.5:n.6621A>G
ENST00000406948.7:c.1711A>G	ENSP00000384627.3:p.Arg571Gly
ENST00000537116.5:n.837A>G
ENST00000537155.1:n.451A>G
ENST00000542688.5:c.*455A>G	ENSP00000446281.1:n.*455A>G
ENST00000614302.4:c.1711A>G	ENSP00000479130.1:p.Arg571Gly
NM_001127214.3:c.1711A>G	NP_001120686.1:p.Arg571Gly
NM_001243279.2:c.1711A>G	NP_001230208.1:p.Arg571Gly
NM_001284316.1:c.916A>G	NP_001271245.1:p.Arg306Gly
NM_174917.4:c.1711A>G	NP_777577.2:p.Arg571Gly
NR_045667.2:n.837A>G
NR_104293.1:n.2145A>G
XR_933239.1:n.2152A>G
XR_933240.1:n.2149A>G
XR_933241.1:n.1906A>G
NR_147928.1:n.2189A>G
NR_147929.1:n.1943A>G
XM_017023020.2:c.-3394A>G	XP_016878509.1:n.-3394A>G
XM_024450187.1:c.916A>G	XP_024305955.1:p.Arg306Gly
XR_001751864.2:n.1958A>G
XR_933240.3:n.2148A>G
NM_001127214.4:c.1711A>G	NP_001120686.1:p.Arg571Gly
NM_001243279.3:c.1711A>G MANE Select	NP_001230208.1:p.Arg571Gly
NM_001284316.2:c.916A>G	NP_001271245.1:p.Arg306Gly
NM_174917.5:c.1711A>G	NP_777577.2:p.Arg571Gly
NR_104293.2:n.2102A>G
NR_147928.2:n.2146A>G
NR_147929.2:n.1900A>G