Canonical Allele Identifier: CA8238386

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 992108
• ClinVar RCV Id: RCV001280424 ; RCV003973176
• dbSNP Id: rs184912682
• ExAC: 16:89220619 G / A
• gnomAD v2: 16-89220619-G-A
• gnomAD v3: 16-89154211-G-A
• gnomAD v4: 16-89154211-G-A
• COSMIC: COSN2535789
• MyVariant Identifiers: chr16:g.89220619G>A (hg19) ; chr16:g.89154211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154211G>A , CM000678.2:g.89154211G>A	GRCh38
NC_000016.9:g.89220619G>A , CM000678.1:g.89220619G>A	GRCh37
NC_000016.8:g.87748120G>A	NCBI36
NG_031961.1:g.65403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.*4G>A	ENSP00000320646.4:n.*4G>A
ENST00000614302.5:c.*4G>A MANE Select	ENSP00000479130.1:n.*4G>A
ENST00000649953.1:c.*4G>A	ENSP00000497456.1:n.*4G>A
ENST00000317447.8:c.*4G>A	ENSP00000320646.4:n.*4G>A
ENST00000378345.8:c.*4G>A	ENSP00000367596.4:n.*4G>A
ENST00000393145.5:n.6645G>A
ENST00000406948.7:c.*4G>A	ENSP00000384627.3:n.*4G>A
ENST00000537116.5:n.861G>A
ENST00000537155.1:n.475G>A
ENST00000542688.5:c.*479G>A	ENSP00000446281.1:n.*479G>A
ENST00000614302.4:c.*4G>A	ENSP00000479130.1:n.*4G>A
NM_001127214.3:c.*4G>A	NP_001120686.1:n.*4G>A
NM_001243279.2:c.*4G>A	NP_001230208.1:n.*4G>A
NM_001284316.1:c.*4G>A	NP_001271245.1:n.*4G>A
NM_174917.4:c.*4G>A	NP_777577.2:n.*4G>A
NR_045667.2:n.861G>A
NR_104293.1:n.2169G>A
XR_933239.1:n.2176G>A
XR_933240.1:n.2173G>A
XR_933241.1:n.1930G>A
NR_147928.1:n.2213G>A
NR_147929.1:n.1967G>A
XM_017023020.2:c.-3370G>A	XP_016878509.1:n.-3370G>A
XM_024450187.1:c.*4G>A	XP_024305955.1:n.*4G>A
XR_001751864.2:n.1982G>A
XR_933240.3:n.2172G>A
NM_001127214.4:c.*4G>A	NP_001120686.1:n.*4G>A
NM_001243279.3:c.*4G>A MANE Select	NP_001230208.1:n.*4G>A
NM_001284316.2:c.*4G>A	NP_001271245.1:n.*4G>A
NM_174917.5:c.*4G>A	NP_777577.2:n.*4G>A
NR_104293.2:n.2126G>A
NR_147928.2:n.2170G>A
NR_147929.2:n.1924G>A