Canonical Allele Identifier: CA497145992

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89145304-C-A
• MyVariant Identifiers: chr16:g.89211712C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145304C>A , CM000678.2:g.89145304C>A	GRCh38
NC_000016.9:g.89211712C>A , CM000678.1:g.89211712C>A	GRCh37
NC_000016.8:g.87739213C>A	NCBI36
NG_031961.1:g.56496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1404C>A	ENSP00000320646.4:p.Ile468=
ENST00000614302.5:c.1404C>A MANE Select	ENSP00000479130.1:p.Ile468=
ENST00000649953.1:c.1614C>A	ENSP00000497456.1:p.Ile538=
ENST00000317447.8:c.1404C>A	ENSP00000320646.4:p.Ile468=
ENST00000378345.8:c.609C>A	ENSP00000367596.4:p.Ile203=
ENST00000406948.7:c.1404C>A	ENSP00000384627.3:p.Ile468=
ENST00000537116.5:n.530C>A
ENST00000537155.1:n.144C>A
ENST00000542688.5:c.*148C>A	ENSP00000446281.1:n.*148C>A
ENST00000544543.5:c.609C>A	ENSP00000442781.1:p.Ile203=
ENST00000562204.1:n.377C>A
ENST00000614302.4:c.1404C>A	ENSP00000479130.1:p.Ile468=
NM_001127214.3:c.1404C>A	NP_001120686.1:p.Ile468=
NM_001243279.2:c.1404C>A	NP_001230208.1:p.Ile468=
NM_001284316.1:c.609C>A	NP_001271245.1:p.Ile203=
NM_174917.4:c.1404C>A	NP_777577.2:p.Ile468=
NR_045667.2:n.530C>A
NR_104293.1:n.1838C>A
XM_005256293.1:c.1404C>A	XP_005256350.1:p.Ile468=
XM_011522942.1:c.1404C>A	XP_011521244.1:p.Ile468=
XM_011522943.1:c.1404C>A	XP_011521245.1:p.Ile468=
XR_933239.1:n.1845C>A
XR_933240.1:n.1842C>A
XR_933241.1:n.1599C>A
NR_147928.1:n.1882C>A
NR_147929.1:n.1636C>A
XM_005256293.2:c.1404C>A	XP_005256350.1:p.Ile468=
XM_017023018.1:c.1404C>A	XP_016878507.1:p.Ile468=
XM_017023019.1:c.1404C>A	XP_016878508.1:p.Ile468=
XM_017023020.2:c.-3701C>A	XP_016878509.1:n.-3701C>A
XM_017023022.1:c.537C>A	XP_016878511.1:p.Ile179=
XM_024450186.1:c.609C>A	XP_024305954.1:p.Ile203=
XM_024450187.1:c.609C>A	XP_024305955.1:p.Ile203=
XR_001751864.2:n.1651C>A
XR_001751865.1:n.1598C>A
XR_933240.3:n.1841C>A
NM_001127214.4:c.1404C>A	NP_001120686.1:p.Ile468=
NM_001243279.3:c.1404C>A MANE Select	NP_001230208.1:p.Ile468=
NM_001284316.2:c.609C>A	NP_001271245.1:p.Ile203=
NM_174917.5:c.1404C>A	NP_777577.2:p.Ile468=
NR_104293.2:n.1795C>A
NR_147928.2:n.1839C>A
NR_147929.2:n.1593C>A