Canonical Allele Identifier: CA497370432

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1668175
• ClinVar RCV Id: RCV002195926
• dbSNP Id: rs1377484799
• gnomAD v2: 16-89167554-C-T
• gnomAD v4: 16-89101146-C-T
• MyVariant Identifiers: chr16:g.89167554C>T (hg19) ; chr16:g.89101146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89101146C>T , CM000678.2:g.89101146C>T	GRCh38
NC_000016.9:g.89167554C>T , CM000678.1:g.89167554C>T	GRCh37
NC_000016.8:g.87695055C>T	NCBI36
NG_031961.1:g.12338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.465C>T	ENSP00000320646.4:p.Leu155=
ENST00000614302.5:c.465C>T MANE Select	ENSP00000479130.1:p.Leu155=
ENST00000649953.1:c.465C>T	ENSP00000497456.1:p.Leu155=
ENST00000317447.8:c.465C>T	ENSP00000320646.4:p.Leu155=
ENST00000378345.8:c.-129-1458C>T	ENSP00000367596.4:n.-129-1458C>T
ENST00000406948.7:c.465C>T	ENSP00000384627.3:p.Leu155=
ENST00000537290.5:c.465C>T	ENSP00000440734.1:p.Leu155=
ENST00000537895.5:c.-129-1458C>T	ENSP00000439201.1:n.-129-1458C>T
ENST00000540697.5:c.-129-1458C>T	ENSP00000445397.1:n.-129-1458C>T
ENST00000542688.5:c.465C>T	ENSP00000446281.1:p.Leu155=
ENST00000614302.4:c.465C>T	ENSP00000479130.1:p.Leu155=
NM_001127214.3:c.465C>T	NP_001120686.1:p.Leu155=
NM_001243279.2:c.465C>T	NP_001230208.1:p.Leu155=
NM_001284316.1:c.-129-1458C>T	NP_001271245.1:n.-129-1458C>T
NM_174917.4:c.465C>T	NP_777577.2:p.Leu155=
NR_104293.1:n.846C>T
XM_005256293.1:c.465C>T	XP_005256350.1:p.Leu155=
XM_011522942.1:c.465C>T	XP_011521244.1:p.Leu155=
XM_011522943.1:c.465C>T	XP_011521245.1:p.Leu155=
XM_011522944.1:c.465C>T	XP_011521246.1:p.Leu155=
XR_933238.1:n.809C>T
XR_933239.1:n.809C>T
XR_933240.1:n.809C>T
XR_933241.1:n.809C>T
NR_147928.1:n.846C>T
NR_147929.1:n.846C>T
XM_005256293.2:c.465C>T	XP_005256350.1:p.Leu155=
XM_017023018.1:c.465C>T	XP_016878507.1:p.Leu155=
XM_017023019.1:c.465C>T	XP_016878508.1:p.Leu155=
XM_017023020.2:c.-4544C>T	XP_016878509.1:n.-4544C>T
XM_017023021.1:c.465C>T	XP_016878510.1:p.Leu155=
XM_024450186.1:c.-129-1458C>T	XP_024305954.1:n.-129-1458C>T
XM_024450187.1:c.-129-1458C>T	XP_024305955.1:n.-129-1458C>T
XR_001751864.2:n.808C>T
XR_001751865.1:n.808C>T
XR_933238.2:n.808C>T
XR_933240.3:n.808C>T
NM_001127214.4:c.465C>T	NP_001120686.1:p.Leu155=
NM_001243279.3:c.465C>T MANE Select	NP_001230208.1:p.Leu155=
NM_001284316.2:c.-129-1458C>T	NP_001271245.1:n.-129-1458C>T
NM_174917.5:c.465C>T	NP_777577.2:p.Leu155=
NR_104293.2:n.803C>T
NR_147928.2:n.803C>T
NR_147929.2:n.803C>T