Canonical Allele Identifier: CA497146052

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 2102262
• ClinVar RCV Id: RCV003037639
• dbSNP Id: rs1912706484
• gnomAD v4: 16-89145319-A-C
• MyVariant Identifiers: chr16:g.89211727A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145319A>C , CM000678.2:g.89145319A>C	GRCh38
NC_000016.9:g.89211727A>C , CM000678.1:g.89211727A>C	GRCh37
NC_000016.8:g.87739228A>C	NCBI36
NG_031961.1:g.56511A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1419A>C	ENSP00000320646.4:p.Ser473=
ENST00000614302.5:c.1419A>C MANE Select	ENSP00000479130.1:p.Ser473=
ENST00000649953.1:c.1629A>C	ENSP00000497456.1:p.Ser543=
ENST00000317447.8:c.1419A>C	ENSP00000320646.4:p.Ser473=
ENST00000378345.8:c.624A>C	ENSP00000367596.4:p.Ser208=
ENST00000406948.7:c.1419A>C	ENSP00000384627.3:p.Ser473=
ENST00000537116.5:n.545A>C
ENST00000537155.1:n.159A>C
ENST00000542688.5:c.*163A>C	ENSP00000446281.1:n.*163A>C
ENST00000544543.5:c.624A>C	ENSP00000442781.1:p.Ser208=
ENST00000562204.1:n.392A>C
ENST00000614302.4:c.1419A>C	ENSP00000479130.1:p.Ser473=
NM_001127214.3:c.1419A>C	NP_001120686.1:p.Ser473=
NM_001243279.2:c.1419A>C	NP_001230208.1:p.Ser473=
NM_001284316.1:c.624A>C	NP_001271245.1:p.Ser208=
NM_174917.4:c.1419A>C	NP_777577.2:p.Ser473=
NR_045667.2:n.545A>C
NR_104293.1:n.1853A>C
XM_005256293.1:c.1419A>C	XP_005256350.1:p.Ser473=
XM_011522942.1:c.1419A>C	XP_011521244.1:p.Ser473=
XM_011522943.1:c.1419A>C	XP_011521245.1:p.Ser473=
XR_933239.1:n.1860A>C
XR_933240.1:n.1857A>C
XR_933241.1:n.1614A>C
NR_147928.1:n.1897A>C
NR_147929.1:n.1651A>C
XM_005256293.2:c.1419A>C	XP_005256350.1:p.Ser473=
XM_017023018.1:c.1419A>C	XP_016878507.1:p.Ser473=
XM_017023019.1:c.1419A>C	XP_016878508.1:p.Ser473=
XM_017023020.2:c.-3686A>C	XP_016878509.1:n.-3686A>C
XM_017023022.1:c.552A>C	XP_016878511.1:p.Ser184=
XM_024450186.1:c.624A>C	XP_024305954.1:p.Ser208=
XM_024450187.1:c.624A>C	XP_024305955.1:p.Ser208=
XR_001751864.2:n.1666A>C
XR_001751865.1:n.1613A>C
XR_933240.3:n.1856A>C
NM_001127214.4:c.1419A>C	NP_001120686.1:p.Ser473=
NM_001243279.3:c.1419A>C MANE Select	NP_001230208.1:p.Ser473=
NM_001284316.2:c.624A>C	NP_001271245.1:p.Ser208=
NM_174917.5:c.1419A>C	NP_777577.2:p.Ser473=
NR_104293.2:n.1810A>C
NR_147928.2:n.1854A>C
NR_147929.2:n.1608A>C