Canonical Allele Identifier: CA497145965

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1161097
• ClinVar RCV Id: RCV001505489
• dbSNP Id: rs1451312853
• gnomAD v2: 16-89211703-G-A
• gnomAD v4: 16-89145295-G-A
• MyVariant Identifiers: chr16:g.89211703G>A (hg19) ; chr16:g.89145295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145295G>A , CM000678.2:g.89145295G>A	GRCh38
NC_000016.9:g.89211703G>A , CM000678.1:g.89211703G>A	GRCh37
NC_000016.8:g.87739204G>A	NCBI36
NG_031961.1:g.56487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1395G>A	ENSP00000320646.4:p.Gln465=
ENST00000614302.5:c.1395G>A MANE Select	ENSP00000479130.1:p.Gln465=
ENST00000649953.1:c.1605G>A	ENSP00000497456.1:p.Gln535=
ENST00000317447.8:c.1395G>A	ENSP00000320646.4:p.Gln465=
ENST00000378345.8:c.600G>A	ENSP00000367596.4:p.Gln200=
ENST00000406948.7:c.1395G>A	ENSP00000384627.3:p.Gln465=
ENST00000537116.5:n.521G>A
ENST00000537155.1:n.135G>A
ENST00000542688.5:c.*139G>A	ENSP00000446281.1:n.*139G>A
ENST00000544543.5:c.600G>A	ENSP00000442781.1:p.Gln200=
ENST00000562204.1:n.368G>A
ENST00000614302.4:c.1395G>A	ENSP00000479130.1:p.Gln465=
NM_001127214.3:c.1395G>A	NP_001120686.1:p.Gln465=
NM_001243279.2:c.1395G>A	NP_001230208.1:p.Gln465=
NM_001284316.1:c.600G>A	NP_001271245.1:p.Gln200=
NM_174917.4:c.1395G>A	NP_777577.2:p.Gln465=
NR_045667.2:n.521G>A
NR_104293.1:n.1829G>A
XM_005256293.1:c.1395G>A	XP_005256350.1:p.Gln465=
XM_011522942.1:c.1395G>A	XP_011521244.1:p.Gln465=
XM_011522943.1:c.1395G>A	XP_011521245.1:p.Gln465=
XR_933239.1:n.1836G>A
XR_933240.1:n.1833G>A
XR_933241.1:n.1590G>A
NR_147928.1:n.1873G>A
NR_147929.1:n.1627G>A
XM_005256293.2:c.1395G>A	XP_005256350.1:p.Gln465=
XM_017023018.1:c.1395G>A	XP_016878507.1:p.Gln465=
XM_017023019.1:c.1395G>A	XP_016878508.1:p.Gln465=
XM_017023020.2:c.-3710G>A	XP_016878509.1:n.-3710G>A
XM_017023022.1:c.528G>A	XP_016878511.1:p.Gln176=
XM_024450186.1:c.600G>A	XP_024305954.1:p.Gln200=
XM_024450187.1:c.600G>A	XP_024305955.1:p.Gln200=
XR_001751864.2:n.1642G>A
XR_001751865.1:n.1589G>A
XR_933240.3:n.1832G>A
NM_001127214.4:c.1395G>A	NP_001120686.1:p.Gln465=
NM_001243279.3:c.1395G>A MANE Select	NP_001230208.1:p.Gln465=
NM_001284316.2:c.600G>A	NP_001271245.1:p.Gln200=
NM_174917.5:c.1395G>A	NP_777577.2:p.Gln465=
NR_104293.2:n.1786G>A
NR_147928.2:n.1830G>A
NR_147929.2:n.1584G>A