Canonical Allele Identifier: CA497148452

Gene: ACSF3

Linked Data

• dbSNP Id: rs1056070408
• gnomAD v3: 16-89154129-G-C
• gnomAD v4: 16-89154129-G-C
• MyVariant Identifiers: chr16:g.89220537G>C (hg19) ; chr16:g.89154129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154129G>C , CM000678.2:g.89154129G>C	GRCh38
NC_000016.9:g.89220537G>C , CM000678.1:g.89220537G>C	GRCh37
NC_000016.8:g.87748038G>C	NCBI36
NG_031961.1:g.65321G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1653G>C	ENSP00000320646.4:p.Val551=
ENST00000614302.5:c.1653G>C MANE Select	ENSP00000479130.1:p.Val551=
ENST00000649953.1:c.1863G>C	ENSP00000497456.1:p.Val621=
ENST00000317447.8:c.1653G>C	ENSP00000320646.4:p.Val551=
ENST00000378345.8:c.858G>C	ENSP00000367596.4:p.Val286=
ENST00000393145.5:n.6563G>C
ENST00000406948.7:c.1653G>C	ENSP00000384627.3:p.Val551=
ENST00000537116.5:n.779G>C
ENST00000537155.1:n.393G>C
ENST00000542688.5:c.*397G>C	ENSP00000446281.1:n.*397G>C
ENST00000614302.4:c.1653G>C	ENSP00000479130.1:p.Val551=
NM_001127214.3:c.1653G>C	NP_001120686.1:p.Val551=
NM_001243279.2:c.1653G>C	NP_001230208.1:p.Val551=
NM_001284316.1:c.858G>C	NP_001271245.1:p.Val286=
NM_174917.4:c.1653G>C	NP_777577.2:p.Val551=
NR_045667.2:n.779G>C
NR_104293.1:n.2087G>C
XR_933239.1:n.2094G>C
XR_933240.1:n.2091G>C
XR_933241.1:n.1848G>C
NR_147928.1:n.2131G>C
NR_147929.1:n.1885G>C
XM_017023020.2:c.-3452G>C	XP_016878509.1:n.-3452G>C
XM_024450187.1:c.858G>C	XP_024305955.1:p.Val286=
XR_001751864.2:n.1900G>C
XR_933240.3:n.2090G>C
NM_001127214.4:c.1653G>C	NP_001120686.1:p.Val551=
NM_001243279.3:c.1653G>C MANE Select	NP_001230208.1:p.Val551=
NM_001284316.2:c.858G>C	NP_001271245.1:p.Val286=
NM_174917.5:c.1653G>C	NP_777577.2:p.Val551=
NR_104293.2:n.2044G>C
NR_147928.2:n.2088G>C
NR_147929.2:n.1842G>C