Canonical Allele Identifier: CA8238300

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1381202
• ClinVar RCV Id: RCV001895246
• dbSNP Id: rs779820462
• ExAC: 16:89212451 G / C
• gnomAD v2: 16-89212451-G-C
• gnomAD v4: 16-89146043-G-C
• MyVariant Identifiers: chr16:g.89212451G>C (hg19) ; chr16:g.89146043G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146043G>C , CM000678.2:g.89146043G>C	GRCh38
NC_000016.9:g.89212451G>C , CM000678.1:g.89212451G>C	GRCh37
NC_000016.8:g.87739952G>C	NCBI36
NG_031961.1:g.57235G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1607G>C	ENSP00000320646.4:p.Trp536Ser
ENST00000614302.5:c.1607G>C MANE Select	ENSP00000479130.1:p.Trp536Ser
ENST00000649953.1:c.1817G>C	ENSP00000497456.1:p.Trp606Ser
ENST00000317447.8:c.1607G>C	ENSP00000320646.4:p.Trp536Ser
ENST00000378345.8:c.812G>C	ENSP00000367596.4:p.Trp271Ser
ENST00000406948.7:c.1607G>C	ENSP00000384627.3:p.Trp536Ser
ENST00000535176.1:c.94G>C
ENST00000537116.5:n.733G>C
ENST00000537155.1:n.347G>C
ENST00000542688.5:c.*351G>C	ENSP00000446281.1:n.*351G>C
ENST00000562204.1:n.580G>C
ENST00000614302.4:c.1607G>C	ENSP00000479130.1:p.Trp536Ser
NM_001127214.3:c.1607G>C	NP_001120686.1:p.Trp536Ser
NM_001243279.2:c.1607G>C	NP_001230208.1:p.Trp536Ser
NM_001284316.1:c.812G>C	NP_001271245.1:p.Trp271Ser
NM_174917.4:c.1607G>C	NP_777577.2:p.Trp536Ser
NR_045667.2:n.733G>C
NR_104293.1:n.2041G>C
XM_005256293.1:c.1607G>C	XP_005256350.1:p.Trp536Ser
XM_011522942.1:c.1607G>C	XP_011521244.1:p.Trp536Ser
XM_011522943.1:c.1607G>C	XP_011521245.1:p.Trp536Ser
XR_933239.1:n.2048G>C
XR_933240.1:n.2045G>C
XR_933241.1:n.1802G>C
NR_147928.1:n.2085G>C
NR_147929.1:n.1839G>C
XM_005256293.2:c.1607G>C	XP_005256350.1:p.Trp536Ser
XM_017023018.1:c.1607G>C	XP_016878507.1:p.Trp536Ser
XM_017023019.1:c.1607G>C	XP_016878508.1:p.Trp536Ser
XM_017023020.2:c.-3498G>C	XP_016878509.1:n.-3498G>C
XM_017023022.1:c.740G>C	XP_016878511.1:p.Trp247Ser
XM_024450186.1:c.812G>C	XP_024305954.1:p.Trp271Ser
XM_024450187.1:c.812G>C	XP_024305955.1:p.Trp271Ser
XR_001751864.2:n.1854G>C
XR_001751865.1:n.1801G>C
XR_933240.3:n.2044G>C
NM_001127214.4:c.1607G>C	NP_001120686.1:p.Trp536Ser
NM_001243279.3:c.1607G>C MANE Select	NP_001230208.1:p.Trp536Ser
NM_001284316.2:c.812G>C	NP_001271245.1:p.Trp271Ser
NM_174917.5:c.1607G>C	NP_777577.2:p.Trp536Ser
NR_104293.2:n.1998G>C
NR_147928.2:n.2042G>C
NR_147929.2:n.1796G>C