Canonical Allele Identifier: CA286500186

Gene: ACSF3

Linked Data

• dbSNP Id: rs200419089
• gnomAD v2: 16-89220468-G-C
• gnomAD v3: 16-89154060-G-C
• gnomAD v4: 16-89154060-G-C
• MyVariant Identifiers: chr16:g.89220468G>C (hg19) ; chr16:g.89154060G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154060G>C , CM000678.2:g.89154060G>C	GRCh38
NC_000016.9:g.89220468G>C , CM000678.1:g.89220468G>C	GRCh37
NC_000016.8:g.87747969G>C	NCBI36
NG_031961.1:g.65252G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1614-30G>C	ENSP00000320646.4:n.1614-30G>C
ENST00000614302.5:c.1614-30G>C MANE Select	ENSP00000479130.1:n.1614-30G>C
ENST00000649953.1:c.1824-30G>C	ENSP00000497456.1:n.1824-30G>C
ENST00000317447.8:c.1614-30G>C	ENSP00000320646.4:n.1614-30G>C
ENST00000378345.8:c.819-30G>C	ENSP00000367596.4:n.819-30G>C
ENST00000393145.5:n.6494G>C
ENST00000406948.7:c.1614-30G>C	ENSP00000384627.3:n.1614-30G>C
ENST00000537116.5:n.740-30G>C
ENST00000537155.1:n.354-30G>C
ENST00000542688.5:c.*358-30G>C	ENSP00000446281.1:n.*358-30G>C
ENST00000614302.4:c.1614-30G>C	ENSP00000479130.1:n.1614-30G>C
NM_001127214.3:c.1614-30G>C	NP_001120686.1:n.1614-30G>C
NM_001243279.2:c.1614-30G>C	NP_001230208.1:n.1614-30G>C
NM_001284316.1:c.819-30G>C	NP_001271245.1:n.819-30G>C
NM_174917.4:c.1614-30G>C	NP_777577.2:n.1614-30G>C
NR_045667.2:n.740-30G>C
NR_104293.1:n.2048-30G>C
XR_933239.1:n.2055-30G>C
XR_933240.1:n.2052-30G>C
XR_933241.1:n.1809-30G>C
NR_147928.1:n.2092-30G>C
NR_147929.1:n.1846-30G>C
XM_017023020.2:c.-3491-30G>C	XP_016878509.1:n.-3491-30G>C
XM_024450187.1:c.819-30G>C	XP_024305955.1:n.819-30G>C
XR_001751864.2:n.1861-30G>C
XR_933240.3:n.2051-30G>C
NM_001127214.4:c.1614-30G>C	NP_001120686.1:n.1614-30G>C
NM_001243279.3:c.1614-30G>C MANE Select	NP_001230208.1:n.1614-30G>C
NM_001284316.2:c.819-30G>C	NP_001271245.1:n.819-30G>C
NM_174917.5:c.1614-30G>C	NP_777577.2:n.1614-30G>C
NR_104293.2:n.2005-30G>C
NR_147928.2:n.2049-30G>C
NR_147929.2:n.1803-30G>C