Canonical Allele Identifier: CA397148252

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1486004
• ClinVar RCV Id: RCV002001159
• dbSNP Id: rs1272786593
• gnomAD v3: 16-89145395-A-C
• gnomAD v4: 16-89145395-A-C
• MyVariant Identifiers: chr16:g.89211803A>C (hg19) ; chr16:g.89145395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145395A>C , CM000678.2:g.89145395A>C	GRCh38
NC_000016.9:g.89211803A>C , CM000678.1:g.89211803A>C	GRCh37
NC_000016.8:g.87739304A>C	NCBI36
NG_031961.1:g.56587A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1495A>C	ENSP00000320646.4:p.Ile499Leu
ENST00000614302.5:c.1495A>C MANE Select	ENSP00000479130.1:p.Ile499Leu
ENST00000649953.1:c.1705A>C	ENSP00000497456.1:p.Ile569Leu
ENST00000317447.8:c.1495A>C	ENSP00000320646.4:p.Ile499Leu
ENST00000378345.8:c.700A>C	ENSP00000367596.4:p.Ile234Leu
ENST00000406948.7:c.1495A>C	ENSP00000384627.3:p.Ile499Leu
ENST00000537116.5:n.621A>C
ENST00000537155.1:n.235A>C
ENST00000542688.5:c.*239A>C	ENSP00000446281.1:n.*239A>C
ENST00000544543.5:c.700A>C	ENSP00000442781.1:p.Ile234Leu
ENST00000562204.1:n.468A>C
ENST00000614302.4:c.1495A>C	ENSP00000479130.1:p.Ile499Leu
NM_001127214.3:c.1495A>C	NP_001120686.1:p.Ile499Leu
NM_001243279.2:c.1495A>C	NP_001230208.1:p.Ile499Leu
NM_001284316.1:c.700A>C	NP_001271245.1:p.Ile234Leu
NM_174917.4:c.1495A>C	NP_777577.2:p.Ile499Leu
NR_045667.2:n.621A>C
NR_104293.1:n.1929A>C
XM_005256293.1:c.1495A>C	XP_005256350.1:p.Ile499Leu
XM_011522942.1:c.1495A>C	XP_011521244.1:p.Ile499Leu
XM_011522943.1:c.1495A>C	XP_011521245.1:p.Ile499Leu
XR_933239.1:n.1936A>C
XR_933240.1:n.1933A>C
XR_933241.1:n.1690A>C
NR_147928.1:n.1973A>C
NR_147929.1:n.1727A>C
XM_005256293.2:c.1495A>C	XP_005256350.1:p.Ile499Leu
XM_017023018.1:c.1495A>C	XP_016878507.1:p.Ile499Leu
XM_017023019.1:c.1495A>C	XP_016878508.1:p.Ile499Leu
XM_017023020.2:c.-3610A>C	XP_016878509.1:n.-3610A>C
XM_017023022.1:c.628A>C	XP_016878511.1:p.Ile210Leu
XM_024450186.1:c.700A>C	XP_024305954.1:p.Ile234Leu
XM_024450187.1:c.700A>C	XP_024305955.1:p.Ile234Leu
XR_001751864.2:n.1742A>C
XR_001751865.1:n.1689A>C
XR_933240.3:n.1932A>C
NM_001127214.4:c.1495A>C	NP_001120686.1:p.Ile499Leu
NM_001243279.3:c.1495A>C MANE Select	NP_001230208.1:p.Ile499Leu
NM_001284316.2:c.700A>C	NP_001271245.1:p.Ile234Leu
NM_174917.5:c.1495A>C	NP_777577.2:p.Ile499Leu
NR_104293.2:n.1886A>C
NR_147928.2:n.1930A>C
NR_147929.2:n.1684A>C