Canonical Allele Identifier: CA624227018

Gene: ACSF3

Linked Data

• dbSNP Id: rs1386765071
• gnomAD v2: 16-89220702-C-T
• gnomAD v3: 16-89154294-C-T
• gnomAD v4: 16-89154294-C-T
• MyVariant Identifiers: chr16:g.89220702C>T (hg19) ; chr16:g.89154294C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154294C>T , CM000678.2:g.89154294C>T	GRCh38
NC_000016.9:g.89220702C>T , CM000678.1:g.89220702C>T	GRCh37
NC_000016.8:g.87748203C>T	NCBI36
NG_031961.1:g.65486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.*87C>T	ENSP00000320646.4:n.*87C>T
ENST00000614302.5:c.*87C>T MANE Select	ENSP00000479130.1:n.*87C>T
ENST00000649953.1:c.*87C>T	ENSP00000497456.1:n.*87C>T
ENST00000317447.8:c.*87C>T	ENSP00000320646.4:n.*87C>T
ENST00000378345.8:c.*87C>T	ENSP00000367596.4:n.*87C>T
ENST00000393145.5:n.6728C>T
ENST00000406948.7:c.*87C>T	ENSP00000384627.3:n.*87C>T
ENST00000537116.5:n.944C>T
ENST00000537155.1:n.558C>T
ENST00000542688.5:c.*562C>T	ENSP00000446281.1:n.*562C>T
ENST00000614302.4:c.*87C>T	ENSP00000479130.1:n.*87C>T
NM_001127214.3:c.*87C>T	NP_001120686.1:n.*87C>T
NM_001243279.2:c.*87C>T	NP_001230208.1:n.*87C>T
NM_001284316.1:c.*87C>T	NP_001271245.1:n.*87C>T
NM_174917.4:c.*87C>T	NP_777577.2:n.*87C>T
NR_045667.2:n.944C>T
NR_104293.1:n.2252C>T
XR_933239.1:n.2259C>T
XR_933240.1:n.2256C>T
XR_933241.1:n.2013C>T
NR_147928.1:n.2296C>T
NR_147929.1:n.2050C>T
XM_017023020.2:c.-3287C>T	XP_016878509.1:n.-3287C>T
XM_024450187.1:c.*87C>T	XP_024305955.1:n.*87C>T
XR_001751864.2:n.2065C>T
XR_933240.3:n.2255C>T
NM_001127214.4:c.*87C>T	NP_001120686.1:n.*87C>T
NM_001243279.3:c.*87C>T MANE Select	NP_001230208.1:n.*87C>T
NM_001284316.2:c.*87C>T	NP_001271245.1:n.*87C>T
NM_174917.5:c.*87C>T	NP_777577.2:n.*87C>T
NR_104293.2:n.2209C>T
NR_147928.2:n.2253C>T
NR_147929.2:n.2007C>T