Canonical Allele Identifier: CA397150901

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 2198701
• ClinVar RCV Id: RCV002633814
• dbSNP Id: rs1193534929
• gnomAD v2: 16-89220599-A-C
• gnomAD v3: 16-89154191-A-C
• gnomAD v4: 16-89154191-A-C
• MyVariant Identifiers: chr16:g.89220599A>C (hg19) ; chr16:g.89154191A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154191A>C , CM000678.2:g.89154191A>C	GRCh38
NC_000016.9:g.89220599A>C , CM000678.1:g.89220599A>C	GRCh37
NC_000016.8:g.87748100A>C	NCBI36
NG_031961.1:g.65383A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1715A>C	ENSP00000320646.4:p.His572Pro
ENST00000614302.5:c.1715A>C MANE Select	ENSP00000479130.1:p.His572Pro
ENST00000649953.1:c.1925A>C	ENSP00000497456.1:p.His642Pro
ENST00000317447.8:c.1715A>C	ENSP00000320646.4:p.His572Pro
ENST00000378345.8:c.920A>C	ENSP00000367596.4:p.His307Pro
ENST00000393145.5:n.6625A>C
ENST00000406948.7:c.1715A>C	ENSP00000384627.3:p.His572Pro
ENST00000537116.5:n.841A>C
ENST00000537155.1:n.455A>C
ENST00000542688.5:c.*459A>C	ENSP00000446281.1:n.*459A>C
ENST00000614302.4:c.1715A>C	ENSP00000479130.1:p.His572Pro
NM_001127214.3:c.1715A>C	NP_001120686.1:p.His572Pro
NM_001243279.2:c.1715A>C	NP_001230208.1:p.His572Pro
NM_001284316.1:c.920A>C	NP_001271245.1:p.His307Pro
NM_174917.4:c.1715A>C	NP_777577.2:p.His572Pro
NR_045667.2:n.841A>C
NR_104293.1:n.2149A>C
XR_933239.1:n.2156A>C
XR_933240.1:n.2153A>C
XR_933241.1:n.1910A>C
NR_147928.1:n.2193A>C
NR_147929.1:n.1947A>C
XM_017023020.2:c.-3390A>C	XP_016878509.1:n.-3390A>C
XM_024450187.1:c.920A>C	XP_024305955.1:p.His307Pro
XR_001751864.2:n.1962A>C
XR_933240.3:n.2152A>C
NM_001127214.4:c.1715A>C	NP_001120686.1:p.His572Pro
NM_001243279.3:c.1715A>C MANE Select	NP_001230208.1:p.His572Pro
NM_001284316.2:c.920A>C	NP_001271245.1:p.His307Pro
NM_174917.5:c.1715A>C	NP_777577.2:p.His572Pro
NR_104293.2:n.2106A>C
NR_147928.2:n.2150A>C
NR_147929.2:n.1904A>C