Canonical Allele Identifier: CA497148506

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 2418362
• ClinVar RCV Id: RCV003121111
• dbSNP Id: rs763984193
• gnomAD v2: 16-89220591-C-T
• gnomAD v4: 16-89154183-C-T
• MyVariant Identifiers: chr16:g.89220591C>T (hg19) ; chr16:g.89154183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154183C>T , CM000678.2:g.89154183C>T	GRCh38
NC_000016.9:g.89220591C>T , CM000678.1:g.89220591C>T	GRCh37
NC_000016.8:g.87748092C>T	NCBI36
NG_031961.1:g.65375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1707C>T	ENSP00000320646.4:p.Leu569=
ENST00000614302.5:c.1707C>T MANE Select	ENSP00000479130.1:p.Leu569=
ENST00000649953.1:c.1917C>T	ENSP00000497456.1:p.Leu639=
ENST00000317447.8:c.1707C>T	ENSP00000320646.4:p.Leu569=
ENST00000378345.8:c.912C>T	ENSP00000367596.4:p.Leu304=
ENST00000393145.5:n.6617C>T
ENST00000406948.7:c.1707C>T	ENSP00000384627.3:p.Leu569=
ENST00000537116.5:n.833C>T
ENST00000537155.1:n.447C>T
ENST00000542688.5:c.*451C>T	ENSP00000446281.1:n.*451C>T
ENST00000614302.4:c.1707C>T	ENSP00000479130.1:p.Leu569=
NM_001127214.3:c.1707C>T	NP_001120686.1:p.Leu569=
NM_001243279.2:c.1707C>T	NP_001230208.1:p.Leu569=
NM_001284316.1:c.912C>T	NP_001271245.1:p.Leu304=
NM_174917.4:c.1707C>T	NP_777577.2:p.Leu569=
NR_045667.2:n.833C>T
NR_104293.1:n.2141C>T
XR_933239.1:n.2148C>T
XR_933240.1:n.2145C>T
XR_933241.1:n.1902C>T
NR_147928.1:n.2185C>T
NR_147929.1:n.1939C>T
XM_017023020.2:c.-3398C>T	XP_016878509.1:n.-3398C>T
XM_024450187.1:c.912C>T	XP_024305955.1:p.Leu304=
XR_001751864.2:n.1954C>T
XR_933240.3:n.2144C>T
NM_001127214.4:c.1707C>T	NP_001120686.1:p.Leu569=
NM_001243279.3:c.1707C>T MANE Select	NP_001230208.1:p.Leu569=
NM_001284316.2:c.912C>T	NP_001271245.1:p.Leu304=
NM_174917.5:c.1707C>T	NP_777577.2:p.Leu569=
NR_104293.2:n.2098C>T
NR_147928.2:n.2142C>T
NR_147929.2:n.1896C>T