Canonical Allele Identifier: CA8238368

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1343756
• ClinVar RCV Id: RCV001844773 ; RCV002543337
• dbSNP Id: rs780364085
• ExAC: 16:89220554 C / T
• gnomAD v2: 16-89220554-C-T
• gnomAD v4: 16-89154146-C-T
• MyVariant Identifiers: chr16:g.89220554C>T (hg19) ; chr16:g.89154146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154146C>T , CM000678.2:g.89154146C>T	GRCh38
NC_000016.9:g.89220554C>T , CM000678.1:g.89220554C>T	GRCh37
NC_000016.8:g.87748055C>T	NCBI36
NG_031961.1:g.65338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1670C>T	ENSP00000320646.4:p.Pro557Leu
ENST00000614302.5:c.1670C>T MANE Select	ENSP00000479130.1:p.Pro557Leu
ENST00000649953.1:c.1880C>T	ENSP00000497456.1:p.Pro627Leu
ENST00000317447.8:c.1670C>T	ENSP00000320646.4:p.Pro557Leu
ENST00000378345.8:c.875C>T	ENSP00000367596.4:p.Pro292Leu
ENST00000393145.5:n.6580C>T
ENST00000406948.7:c.1670C>T	ENSP00000384627.3:p.Pro557Leu
ENST00000537116.5:n.796C>T
ENST00000537155.1:n.410C>T
ENST00000542688.5:c.*414C>T	ENSP00000446281.1:n.*414C>T
ENST00000614302.4:c.1670C>T	ENSP00000479130.1:p.Pro557Leu
NM_001127214.3:c.1670C>T	NP_001120686.1:p.Pro557Leu
NM_001243279.2:c.1670C>T	NP_001230208.1:p.Pro557Leu
NM_001284316.1:c.875C>T	NP_001271245.1:p.Pro292Leu
NM_174917.4:c.1670C>T	NP_777577.2:p.Pro557Leu
NR_045667.2:n.796C>T
NR_104293.1:n.2104C>T
XR_933239.1:n.2111C>T
XR_933240.1:n.2108C>T
XR_933241.1:n.1865C>T
NR_147928.1:n.2148C>T
NR_147929.1:n.1902C>T
XM_017023020.2:c.-3435C>T	XP_016878509.1:n.-3435C>T
XM_024450187.1:c.875C>T	XP_024305955.1:p.Pro292Leu
XR_001751864.2:n.1917C>T
XR_933240.3:n.2107C>T
NM_001127214.4:c.1670C>T	NP_001120686.1:p.Pro557Leu
NM_001243279.3:c.1670C>T MANE Select	NP_001230208.1:p.Pro557Leu
NM_001284316.2:c.875C>T	NP_001271245.1:p.Pro292Leu
NM_174917.5:c.1670C>T	NP_777577.2:p.Pro557Leu
NR_104293.2:n.2061C>T
NR_147928.2:n.2105C>T
NR_147929.2:n.1859C>T