Canonical Allele Identifier: CA8237440

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 516974
• ClinVar RCV Id: RCV000601991
• dbSNP Id: rs533518151
• ExAC: 16:89160418 G / C
• gnomAD v2: 16-89160418-G-C
• gnomAD v3: 16-89094010-G-C
• gnomAD v4: 16-89094010-G-C
• MyVariant Identifiers: chr16:g.89160418G>C (hg19) ; chr16:g.89094010G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89094010G>C , CM000678.2:g.89094010G>C	GRCh38
NC_000016.9:g.89160418G>C , CM000678.1:g.89160418G>C	GRCh37
NC_000016.8:g.87687919G>C	NCBI36
NG_031961.1:g.5202G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.-194+18G>C	ENSP00000320646.4:n.-194+18G>C
ENST00000614302.5:c.-194+14G>C MANE Select	ENSP00000479130.1:n.-194+14G>C
ENST00000317447.8:c.-194+18G>C	ENSP00000320646.4:n.-194+18G>C
ENST00000378345.8:c.-130+18G>C	ENSP00000367596.4:n.-130+18G>C
ENST00000406948.7:c.-21+14G>C	ENSP00000384627.3:n.-21+14G>C
ENST00000537290.5:c.-21+18G>C	ENSP00000440734.1:n.-21+18G>C
ENST00000537895.5:c.-130+5532G>C	ENSP00000439201.1:n.-130+5532G>C
ENST00000540697.5:c.-130+14G>C	ENSP00000445397.1:n.-130+14G>C
ENST00000541755.2:c.-303+18G>C	ENSP00000457301.1:n.-303+18G>C
ENST00000614302.4:c.-194+14G>C	ENSP00000479130.1:n.-194+14G>C
NM_001127214.3:c.-21+14G>C	NP_001120686.1:n.-21+14G>C
NM_001243279.2:c.-194+14G>C	NP_001230208.1:n.-194+14G>C
NM_001284316.1:c.-130+18G>C	NP_001271245.1:n.-130+18G>C
NM_174917.4:c.-194+18G>C	NP_777577.2:n.-194+18G>C
NR_104293.1:n.188+14G>C
XM_005256293.1:c.-194+14G>C	XP_005256350.1:n.-194+14G>C
XM_011522942.1:c.-194+18G>C	XP_011521244.1:n.-194+18G>C
XM_011522943.1:c.-21+14G>C	XP_011521245.1:n.-21+14G>C
XM_011522944.1:c.-194+14G>C	XP_011521246.1:n.-194+14G>C
XR_933238.1:n.151+14G>C
XR_933239.1:n.151+14G>C
XR_933240.1:n.151+14G>C
XR_933241.1:n.151+14G>C
NR_147928.1:n.188+14G>C
NR_147929.1:n.188+14G>C
XM_005256293.2:c.-194+14G>C	XP_005256350.1:n.-194+14G>C
XM_017023019.1:c.-194+14G>C	XP_016878508.1:n.-194+14G>C
XM_017023021.1:c.-194+14G>C	XP_016878510.1:n.-194+14G>C
XM_024450186.1:c.-130+14G>C	XP_024305954.1:n.-130+14G>C
XM_024450187.1:c.-130+14G>C	XP_024305955.1:n.-130+14G>C
XR_001751864.2:n.150+14G>C
XR_001751865.1:n.150+14G>C
XR_933238.2:n.150+14G>C
XR_933240.3:n.150+14G>C
NM_001127214.4:c.-21+14G>C	NP_001120686.1:n.-21+14G>C
NM_001243279.3:c.-194+14G>C MANE Select	NP_001230208.1:n.-194+14G>C
NM_001284316.2:c.-130+18G>C	NP_001271245.1:n.-130+18G>C
NM_174917.5:c.-194+18G>C	NP_777577.2:n.-194+18G>C
NR_104293.2:n.145+14G>C
NR_147928.2:n.145+14G>C
NR_147929.2:n.145+14G>C