Canonical Allele Identifier: CA397148199

Gene: ACSF3

Linked Data

• dbSNP Id: rs1310778777
• gnomAD v2: 16-89211776-G-C
• gnomAD v3: 16-89145368-G-C
• gnomAD v4: 16-89145368-G-C
• MyVariant Identifiers: chr16:g.89211776G>C (hg19) ; chr16:g.89145368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145368G>C , CM000678.2:g.89145368G>C	GRCh38
NC_000016.9:g.89211776G>C , CM000678.1:g.89211776G>C	GRCh37
NC_000016.8:g.87739277G>C	NCBI36
NG_031961.1:g.56560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1468G>C	ENSP00000320646.4:p.Glu490Gln
ENST00000614302.5:c.1468G>C MANE Select	ENSP00000479130.1:p.Glu490Gln
ENST00000649953.1:c.1678G>C	ENSP00000497456.1:p.Glu560Gln
ENST00000317447.8:c.1468G>C	ENSP00000320646.4:p.Glu490Gln
ENST00000378345.8:c.673G>C	ENSP00000367596.4:p.Glu225Gln
ENST00000406948.7:c.1468G>C	ENSP00000384627.3:p.Glu490Gln
ENST00000537116.5:n.594G>C
ENST00000537155.1:n.208G>C
ENST00000542688.5:c.*212G>C	ENSP00000446281.1:n.*212G>C
ENST00000544543.5:c.673G>C	ENSP00000442781.1:p.Glu225Gln
ENST00000562204.1:n.441G>C
ENST00000614302.4:c.1468G>C	ENSP00000479130.1:p.Glu490Gln
NM_001127214.3:c.1468G>C	NP_001120686.1:p.Glu490Gln
NM_001243279.2:c.1468G>C	NP_001230208.1:p.Glu490Gln
NM_001284316.1:c.673G>C	NP_001271245.1:p.Glu225Gln
NM_174917.4:c.1468G>C	NP_777577.2:p.Glu490Gln
NR_045667.2:n.594G>C
NR_104293.1:n.1902G>C
XM_005256293.1:c.1468G>C	XP_005256350.1:p.Glu490Gln
XM_011522942.1:c.1468G>C	XP_011521244.1:p.Glu490Gln
XM_011522943.1:c.1468G>C	XP_011521245.1:p.Glu490Gln
XR_933239.1:n.1909G>C
XR_933240.1:n.1906G>C
XR_933241.1:n.1663G>C
NR_147928.1:n.1946G>C
NR_147929.1:n.1700G>C
XM_005256293.2:c.1468G>C	XP_005256350.1:p.Glu490Gln
XM_017023018.1:c.1468G>C	XP_016878507.1:p.Glu490Gln
XM_017023019.1:c.1468G>C	XP_016878508.1:p.Glu490Gln
XM_017023020.2:c.-3637G>C	XP_016878509.1:n.-3637G>C
XM_017023022.1:c.601G>C	XP_016878511.1:p.Glu201Gln
XM_024450186.1:c.673G>C	XP_024305954.1:p.Glu225Gln
XM_024450187.1:c.673G>C	XP_024305955.1:p.Glu225Gln
XR_001751864.2:n.1715G>C
XR_001751865.1:n.1662G>C
XR_933240.3:n.1905G>C
NM_001127214.4:c.1468G>C	NP_001120686.1:p.Glu490Gln
NM_001243279.3:c.1468G>C MANE Select	NP_001230208.1:p.Glu490Gln
NM_001284316.2:c.673G>C	NP_001271245.1:p.Glu225Gln
NM_174917.5:c.1468G>C	NP_777577.2:p.Glu490Gln
NR_104293.2:n.1859G>C
NR_147928.2:n.1903G>C
NR_147929.2:n.1657G>C