Canonical Allele Identifier: CA399857728

Gene: ACBD4

Linked Data

• ClinVar Variation Id: 2495198
• ClinVar RCV Id: RCV004287225
• dbSNP Id: rs1306652195
• gnomAD v2: 17-43220901-A-C
• gnomAD v4: 17-45143534-A-C
• MyVariant Identifiers: chr17:g.43220901A>C (hg19) ; chr17:g.45143534A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45143534A>C , CM000679.2:g.45143534A>C	GRCh38
NC_000017.10:g.43220901A>C , CM000679.1:g.43220901A>C	GRCh37
NC_000017.9:g.40576684A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321854.13:c.881A>C MANE Select	ENSP00000314440.8:p.Gln294Pro
ENST00000321854.12:c.881A>C	ENSP00000314440.8:p.Gln294Pro
ENST00000398322.7:c.881A>C	ENSP00000381367.2:p.Gln294Pro
ENST00000431281.5:c.919A>C	ENSP00000405969.1:p.Ser307Arg
ENST00000585553.5:n.1599A>C
ENST00000586346.5:c.919A>C	ENSP00000465484.1:p.Ser307Arg
ENST00000591859.5:c.919A>C	ENSP00000465610.1:p.Ser307Arg
ENST00000592162.5:c.741A>C	ENSP00000466305.1:p.Pro247=
NM_001135704.1:c.919A>C	NP_001129176.1:p.Ser307Arg
NM_001135705.1:c.881A>C	NP_001129177.1:p.Gln294Pro
NM_001135706.1:c.919A>C	NP_001129178.1:p.Ser307Arg
NM_024722.2:c.881A>C	NP_078998.1:p.Gln294Pro
XM_005257673.1:c.922A>C	XP_005257730.1:p.Ser308Arg
XM_005257674.1:c.922A>C	XP_005257731.1:p.Ser308Arg
XM_005257677.1:c.919A>C	XP_005257734.1:p.Ser307Arg
XM_006722085.1:c.884A>C	XP_006722148.1:p.Gln295Pro
XM_006722088.1:c.782A>C	XP_006722151.1:p.Gln261Pro
XM_006722089.1:c.744A>C	XP_006722152.1:p.Pro248=
XM_006722090.1:c.741A>C	XP_006722153.1:p.Pro247=
XM_011525255.1:c.922A>C	XP_011523557.1:p.Ser308Arg
XM_011525256.1:c.922A>C	XP_011523558.1:p.Ser308Arg
XM_011525257.1:c.779A>C	XP_011523559.1:p.Gln260Pro
NM_001135705.2:c.881A>C	NP_001129177.1:p.Gln294Pro
NM_001135706.2:c.919A>C	NP_001129178.1:p.Ser307Arg
NM_001135707.2:c.*924A>C	NP_001129179.1:n.*924A>C
NM_001321352.1:c.919A>C	NP_001308281.1:p.Ser307Arg
NM_001321353.1:c.919A>C	NP_001308282.1:p.Ser307Arg
NM_024722.3:c.881A>C	NP_078998.1:p.Gln294Pro
XM_006722085.2:c.884A>C	XP_006722148.1:p.Gln295Pro
XM_017025084.1:c.940A>C	XP_016880573.1:p.Ser314Arg
XM_017025085.1:c.940A>C	XP_016880574.1:p.Ser314Arg
XM_017025086.1:c.940A>C	XP_016880575.1:p.Ser314Arg
XM_017025087.1:c.922A>C	XP_016880576.1:p.Ser308Arg
XM_017025088.1:c.919A>C	XP_016880577.1:p.Ser307Arg
XM_017025089.2:c.*754A>C	XP_016880578.1:n.*754A>C
XM_017025090.1:c.902A>C	XP_016880579.1:p.Gln301Pro
XM_017025091.1:c.881A>C	XP_016880580.1:p.Gln294Pro
XM_017025092.2:c.881A>C	XP_016880581.1:p.Gln294Pro
XM_017025094.1:c.*924A>C	XP_016880583.1:n.*924A>C
XM_017025095.1:c.800A>C	XP_016880584.1:p.Gln267Pro
XM_017025096.1:c.762A>C	XP_016880585.1:p.Pro254=
XM_017025097.1:c.779A>C	XP_016880586.1:p.Gln260Pro
XM_017025098.1:c.779A>C	XP_016880587.1:p.Gln260Pro
XM_017025099.1:c.741A>C	XP_016880588.1:p.Pro247=
XM_024450949.1:c.*754A>C	XP_024306717.1:n.*754A>C
NM_001135705.3:c.881A>C MANE Select	NP_001129177.1:p.Gln294Pro
NM_001135706.3:c.919A>C	NP_001129178.1:p.Ser307Arg
NM_001135707.3:c.*924A>C	NP_001129179.1:n.*924A>C
NM_001321352.2:c.919A>C	NP_001308281.1:p.Ser307Arg
NM_001321353.2:c.919A>C	NP_001308282.1:p.Ser307Arg
NM_024722.4:c.881A>C	NP_078998.1:p.Gln294Pro
NM_001378111.1:c.*924A>C	NP_001365040.1:n.*924A>C
NM_001378112.1:c.*924A>C	NP_001365041.1:n.*924A>C