Canonical Allele Identifier: CA397148213

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 2260062
• ClinVar RCV Id: RCV002783361
• dbSNP Id: rs1297293187
• gnomAD v2: 16-89211782-C-T
• gnomAD v4: 16-89145374-C-T
• MyVariant Identifiers: chr16:g.89211782C>T (hg19) ; chr16:g.89145374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145374C>T , CM000678.2:g.89145374C>T	GRCh38
NC_000016.9:g.89211782C>T , CM000678.1:g.89211782C>T	GRCh37
NC_000016.8:g.87739283C>T	NCBI36
NG_031961.1:g.56566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1474C>T	ENSP00000320646.4:p.His492Tyr
ENST00000614302.5:c.1474C>T MANE Select	ENSP00000479130.1:p.His492Tyr
ENST00000649953.1:c.1684C>T	ENSP00000497456.1:p.His562Tyr
ENST00000317447.8:c.1474C>T	ENSP00000320646.4:p.His492Tyr
ENST00000378345.8:c.679C>T	ENSP00000367596.4:p.His227Tyr
ENST00000406948.7:c.1474C>T	ENSP00000384627.3:p.His492Tyr
ENST00000537116.5:n.600C>T
ENST00000537155.1:n.214C>T
ENST00000542688.5:c.*218C>T	ENSP00000446281.1:n.*218C>T
ENST00000544543.5:c.679C>T	ENSP00000442781.1:p.His227Tyr
ENST00000562204.1:n.447C>T
ENST00000614302.4:c.1474C>T	ENSP00000479130.1:p.His492Tyr
NM_001127214.3:c.1474C>T	NP_001120686.1:p.His492Tyr
NM_001243279.2:c.1474C>T	NP_001230208.1:p.His492Tyr
NM_001284316.1:c.679C>T	NP_001271245.1:p.His227Tyr
NM_174917.4:c.1474C>T	NP_777577.2:p.His492Tyr
NR_045667.2:n.600C>T
NR_104293.1:n.1908C>T
XM_005256293.1:c.1474C>T	XP_005256350.1:p.His492Tyr
XM_011522942.1:c.1474C>T	XP_011521244.1:p.His492Tyr
XM_011522943.1:c.1474C>T	XP_011521245.1:p.His492Tyr
XR_933239.1:n.1915C>T
XR_933240.1:n.1912C>T
XR_933241.1:n.1669C>T
NR_147928.1:n.1952C>T
NR_147929.1:n.1706C>T
XM_005256293.2:c.1474C>T	XP_005256350.1:p.His492Tyr
XM_017023018.1:c.1474C>T	XP_016878507.1:p.His492Tyr
XM_017023019.1:c.1474C>T	XP_016878508.1:p.His492Tyr
XM_017023020.2:c.-3631C>T	XP_016878509.1:n.-3631C>T
XM_017023022.1:c.607C>T	XP_016878511.1:p.His203Tyr
XM_024450186.1:c.679C>T	XP_024305954.1:p.His227Tyr
XM_024450187.1:c.679C>T	XP_024305955.1:p.His227Tyr
XR_001751864.2:n.1721C>T
XR_001751865.1:n.1668C>T
XR_933240.3:n.1911C>T
NM_001127214.4:c.1474C>T	NP_001120686.1:p.His492Tyr
NM_001243279.3:c.1474C>T MANE Select	NP_001230208.1:p.His492Tyr
NM_001284316.2:c.679C>T	NP_001271245.1:p.His227Tyr
NM_174917.5:c.1474C>T	NP_777577.2:p.His492Tyr
NR_104293.2:n.1865C>T
NR_147928.2:n.1909C>T
NR_147929.2:n.1663C>T