Canonical Allele Identifier: CA312301

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 203601
• ClinVar RCV Id: RCV000185749 ; RCV000658756 ; RCV000660548 ; RCV003977489 ; RCV004020249
• dbSNP Id: rs144681140
• ExAC: 16:89211714 G / A
• gnomAD v2: 16-89211714-G-A
• gnomAD v3: 16-89145306-G-A
• gnomAD v4: 16-89145306-G-A
• MyVariant Identifiers: chr16:g.89211714G>A (hg19) ; chr16:g.89145306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145306G>A , CM000678.2:g.89145306G>A	GRCh38
NC_000016.9:g.89211714G>A , CM000678.1:g.89211714G>A	GRCh37
NC_000016.8:g.87739215G>A	NCBI36
NG_031961.1:g.56498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1406G>A	ENSP00000320646.4:p.Arg469Gln
ENST00000614302.5:c.1406G>A MANE Select	ENSP00000479130.1:p.Arg469Gln
ENST00000649953.1:c.1616G>A	ENSP00000497456.1:p.Arg539Gln
ENST00000317447.8:c.1406G>A	ENSP00000320646.4:p.Arg469Gln
ENST00000378345.8:c.611G>A	ENSP00000367596.4:p.Arg204Gln
ENST00000406948.7:c.1406G>A	ENSP00000384627.3:p.Arg469Gln
ENST00000537116.5:n.532G>A
ENST00000537155.1:n.146G>A
ENST00000542688.5:c.*150G>A	ENSP00000446281.1:n.*150G>A
ENST00000544543.5:c.611G>A	ENSP00000442781.1:p.Arg204Gln
ENST00000562204.1:n.379G>A
ENST00000614302.4:c.1406G>A	ENSP00000479130.1:p.Arg469Gln
NM_001127214.3:c.1406G>A	NP_001120686.1:p.Arg469Gln
NM_001243279.2:c.1406G>A	NP_001230208.1:p.Arg469Gln
NM_001284316.1:c.611G>A	NP_001271245.1:p.Arg204Gln
NM_174917.4:c.1406G>A	NP_777577.2:p.Arg469Gln
NR_045667.2:n.532G>A
NR_104293.1:n.1840G>A
XM_005256293.1:c.1406G>A	XP_005256350.1:p.Arg469Gln
XM_011522942.1:c.1406G>A	XP_011521244.1:p.Arg469Gln
XM_011522943.1:c.1406G>A	XP_011521245.1:p.Arg469Gln
XR_933239.1:n.1847G>A
XR_933240.1:n.1844G>A
XR_933241.1:n.1601G>A
NR_147928.1:n.1884G>A
NR_147929.1:n.1638G>A
XM_005256293.2:c.1406G>A	XP_005256350.1:p.Arg469Gln
XM_017023018.1:c.1406G>A	XP_016878507.1:p.Arg469Gln
XM_017023019.1:c.1406G>A	XP_016878508.1:p.Arg469Gln
XM_017023020.2:c.-3699G>A	XP_016878509.1:n.-3699G>A
XM_017023022.1:c.539G>A	XP_016878511.1:p.Arg180Gln
XM_024450186.1:c.611G>A	XP_024305954.1:p.Arg204Gln
XM_024450187.1:c.611G>A	XP_024305955.1:p.Arg204Gln
XR_001751864.2:n.1653G>A
XR_001751865.1:n.1600G>A
XR_933240.3:n.1843G>A
NM_001127214.4:c.1406G>A	NP_001120686.1:p.Arg469Gln
NM_001243279.3:c.1406G>A MANE Select	NP_001230208.1:p.Arg469Gln
NM_001284316.2:c.611G>A	NP_001271245.1:p.Arg204Gln
NM_174917.5:c.1406G>A	NP_777577.2:p.Arg469Gln
NR_104293.2:n.1797G>A
NR_147928.2:n.1841G>A
NR_147929.2:n.1595G>A