Canonical Allele Identifier: CA8238351

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1366886
• ClinVar RCV Id: RCV001944892
• dbSNP Id: rs570670205
• ExAC: 16:89220502 G / C
• gnomAD v2: 16-89220502-G-C
• gnomAD v3: 16-89154094-G-C
• gnomAD v4: 16-89154094-G-C
• MyVariant Identifiers: chr16:g.89220502G>C (hg19) ; chr16:g.89154094G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154094G>C , CM000678.2:g.89154094G>C	GRCh38
NC_000016.9:g.89220502G>C , CM000678.1:g.89220502G>C	GRCh37
NC_000016.8:g.87748003G>C	NCBI36
NG_031961.1:g.65286G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1618G>C	ENSP00000320646.4:p.Val540Leu
ENST00000614302.5:c.1618G>C MANE Select	ENSP00000479130.1:p.Val540Leu
ENST00000649953.1:c.1828G>C	ENSP00000497456.1:p.Val610Leu
ENST00000317447.8:c.1618G>C	ENSP00000320646.4:p.Val540Leu
ENST00000378345.8:c.823G>C	ENSP00000367596.4:p.Val275Leu
ENST00000393145.5:n.6528G>C
ENST00000406948.7:c.1618G>C	ENSP00000384627.3:p.Val540Leu
ENST00000537116.5:n.744G>C
ENST00000537155.1:n.358G>C
ENST00000542688.5:c.*362G>C	ENSP00000446281.1:n.*362G>C
ENST00000614302.4:c.1618G>C	ENSP00000479130.1:p.Val540Leu
NM_001127214.3:c.1618G>C	NP_001120686.1:p.Val540Leu
NM_001243279.2:c.1618G>C	NP_001230208.1:p.Val540Leu
NM_001284316.1:c.823G>C	NP_001271245.1:p.Val275Leu
NM_174917.4:c.1618G>C	NP_777577.2:p.Val540Leu
NR_045667.2:n.744G>C
NR_104293.1:n.2052G>C
XR_933239.1:n.2059G>C
XR_933240.1:n.2056G>C
XR_933241.1:n.1813G>C
NR_147928.1:n.2096G>C
NR_147929.1:n.1850G>C
XM_017023020.2:c.-3487G>C	XP_016878509.1:n.-3487G>C
XM_024450187.1:c.823G>C	XP_024305955.1:p.Val275Leu
XR_001751864.2:n.1865G>C
XR_933240.3:n.2055G>C
NM_001127214.4:c.1618G>C	NP_001120686.1:p.Val540Leu
NM_001243279.3:c.1618G>C MANE Select	NP_001230208.1:p.Val540Leu
NM_001284316.2:c.823G>C	NP_001271245.1:p.Val275Leu
NM_174917.5:c.1618G>C	NP_777577.2:p.Val540Leu
NR_104293.2:n.2009G>C
NR_147928.2:n.2053G>C
NR_147929.2:n.1807G>C