Canonical Allele Identifier: CA8238225

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 955612
• ClinVar RCV Id: RCV001228285
• dbSNP Id: rs377596983
• ExAC: 16:89211773 G / T
• gnomAD v2: 16-89211773-G-T
• gnomAD v4: 16-89145365-G-T
• MyVariant Identifiers: chr16:g.89211773G>T (hg19) ; chr16:g.89145365G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145365G>T , CM000678.2:g.89145365G>T	GRCh38
NC_000016.9:g.89211773G>T , CM000678.1:g.89211773G>T	GRCh37
NC_000016.8:g.87739274G>T	NCBI36
NG_031961.1:g.56557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1465G>T	ENSP00000320646.4:p.Val489Leu
ENST00000614302.5:c.1465G>T MANE Select	ENSP00000479130.1:p.Val489Leu
ENST00000649953.1:c.1675G>T	ENSP00000497456.1:p.Val559Leu
ENST00000317447.8:c.1465G>T	ENSP00000320646.4:p.Val489Leu
ENST00000378345.8:c.670G>T	ENSP00000367596.4:p.Val224Leu
ENST00000406948.7:c.1465G>T	ENSP00000384627.3:p.Val489Leu
ENST00000537116.5:n.591G>T
ENST00000537155.1:n.205G>T
ENST00000542688.5:c.*209G>T	ENSP00000446281.1:n.*209G>T
ENST00000544543.5:c.670G>T	ENSP00000442781.1:p.Val224Leu
ENST00000562204.1:n.438G>T
ENST00000614302.4:c.1465G>T	ENSP00000479130.1:p.Val489Leu
NM_001127214.3:c.1465G>T	NP_001120686.1:p.Val489Leu
NM_001243279.2:c.1465G>T	NP_001230208.1:p.Val489Leu
NM_001284316.1:c.670G>T	NP_001271245.1:p.Val224Leu
NM_174917.4:c.1465G>T	NP_777577.2:p.Val489Leu
NR_045667.2:n.591G>T
NR_104293.1:n.1899G>T
XM_005256293.1:c.1465G>T	XP_005256350.1:p.Val489Leu
XM_011522942.1:c.1465G>T	XP_011521244.1:p.Val489Leu
XM_011522943.1:c.1465G>T	XP_011521245.1:p.Val489Leu
XR_933239.1:n.1906G>T
XR_933240.1:n.1903G>T
XR_933241.1:n.1660G>T
NR_147928.1:n.1943G>T
NR_147929.1:n.1697G>T
XM_005256293.2:c.1465G>T	XP_005256350.1:p.Val489Leu
XM_017023018.1:c.1465G>T	XP_016878507.1:p.Val489Leu
XM_017023019.1:c.1465G>T	XP_016878508.1:p.Val489Leu
XM_017023020.2:c.-3640G>T	XP_016878509.1:n.-3640G>T
XM_017023022.1:c.598G>T	XP_016878511.1:p.Val200Leu
XM_024450186.1:c.670G>T	XP_024305954.1:p.Val224Leu
XM_024450187.1:c.670G>T	XP_024305955.1:p.Val224Leu
XR_001751864.2:n.1712G>T
XR_001751865.1:n.1659G>T
XR_933240.3:n.1902G>T
NM_001127214.4:c.1465G>T	NP_001120686.1:p.Val489Leu
NM_001243279.3:c.1465G>T MANE Select	NP_001230208.1:p.Val489Leu
NM_001284316.2:c.670G>T	NP_001271245.1:p.Val224Leu
NM_174917.5:c.1465G>T	NP_777577.2:p.Val489Leu
NR_104293.2:n.1856G>T
NR_147928.2:n.1900G>T
NR_147929.2:n.1654G>T