Canonical Allele Identifier: CA397140401

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1978114
• ClinVar RCV Id: RCV002774978
• MyVariant Identifiers: chr16:g.89180798G>A (hg19) ; chr16:g.89114390G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89114390G>A , CM000678.2:g.89114390G>A	GRCh38
NC_000016.9:g.89180798G>A , CM000678.1:g.89180798G>A	GRCh37
NC_000016.8:g.87708299G>A	NCBI36
NG_031961.1:g.25582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1029G>A	ENSP00000320646.4:p.Trp343Ter
ENST00000614302.5:c.1029G>A MANE Select	ENSP00000479130.1:p.Trp343Ter
ENST00000649953.1:c.1029G>A	ENSP00000497456.1:p.Trp343Ter
ENST00000317447.8:c.1029G>A	ENSP00000320646.4:p.Trp343Ter
ENST00000378345.8:c.234G>A	ENSP00000367596.4:p.Trp78Ter
ENST00000406948.7:c.1029G>A	ENSP00000384627.3:p.Trp343Ter
ENST00000537895.5:c.234G>A	ENSP00000439201.1:p.Trp78Ter
ENST00000538340.5:c.302+2144G>A	ENSP00000445870.1:n.302+2144G>A
ENST00000540697.5:c.234G>A	ENSP00000445397.1:p.Trp78Ter
ENST00000542688.5:c.977+2144G>A	ENSP00000446281.1:n.977+2144G>A
ENST00000543676.1:c.271G>A
ENST00000544543.5:c.234G>A	ENSP00000442781.1:p.Trp78Ter
ENST00000562204.1:n.46+2144G>A
ENST00000614302.4:c.1029G>A	ENSP00000479130.1:p.Trp343Ter
NM_001127214.3:c.1029G>A	NP_001120686.1:p.Trp343Ter
NM_001243279.2:c.1029G>A	NP_001230208.1:p.Trp343Ter
NM_001284316.1:c.234G>A	NP_001271245.1:p.Trp78Ter
NM_174917.4:c.1029G>A	NP_777577.2:p.Trp343Ter
NR_104293.1:n.1410G>A
XM_005256293.1:c.1029G>A	XP_005256350.1:p.Trp343Ter
XM_011522942.1:c.1029G>A	XP_011521244.1:p.Trp343Ter
XM_011522943.1:c.1029G>A	XP_011521245.1:p.Trp343Ter
XM_011522944.1:c.1029G>A	XP_011521246.1:p.Trp343Ter
XR_933238.1:n.1373G>A
XR_933239.1:n.1373G>A
XR_933240.1:n.1373G>A
XR_933241.1:n.1321+2144G>A
NR_147928.1:n.1410G>A
NR_147929.1:n.1358+2144G>A
XM_005256293.2:c.1029G>A	XP_005256350.1:p.Trp343Ter
XM_017023018.1:c.1029G>A	XP_016878507.1:p.Trp343Ter
XM_017023019.1:c.1029G>A	XP_016878508.1:p.Trp343Ter
XM_017023020.2:c.-4032+2144G>A	XP_016878509.1:n.-4032+2144G>A
XM_017023021.1:c.1029G>A	XP_016878510.1:p.Trp343Ter
XM_024450186.1:c.234G>A	XP_024305954.1:p.Trp78Ter
XM_024450187.1:c.234G>A	XP_024305955.1:p.Trp78Ter
XR_001751864.2:n.1320+2144G>A
XR_001751865.1:n.1320+2144G>A
XR_933238.2:n.1372G>A
XR_933240.3:n.1372G>A
NM_001127214.4:c.1029G>A	NP_001120686.1:p.Trp343Ter
NM_001243279.3:c.1029G>A MANE Select	NP_001230208.1:p.Trp343Ter
NM_001284316.2:c.234G>A	NP_001271245.1:p.Trp78Ter
NM_174917.5:c.1029G>A	NP_777577.2:p.Trp343Ter
NR_104293.2:n.1367G>A
NR_147928.2:n.1367G>A
NR_147929.2:n.1315+2144G>A