Canonical Allele Identifier: CA399857732

Gene: ACBD4

Linked Data

• MyVariant Identifiers: chr17:g.43220902G>C (hg19) ; chr17:g.45143535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45143535G>C , CM000679.2:g.45143535G>C	GRCh38
NC_000017.10:g.43220902G>C , CM000679.1:g.43220902G>C	GRCh37
NC_000017.9:g.40576685G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321854.13:c.882G>C MANE Select	ENSP00000314440.8:p.Gln294His
ENST00000321854.12:c.882G>C	ENSP00000314440.8:p.Gln294His
ENST00000398322.7:c.882G>C	ENSP00000381367.2:p.Gln294His
ENST00000431281.5:c.920G>C	ENSP00000405969.1:p.Ser307Thr
ENST00000585553.5:n.1600G>C
ENST00000586346.5:c.920G>C	ENSP00000465484.1:p.Ser307Thr
ENST00000591859.5:c.920G>C	ENSP00000465610.1:p.Ser307Thr
ENST00000592162.5:c.742G>C	ENSP00000466305.1:p.Val248Leu
NM_001135704.1:c.920G>C	NP_001129176.1:p.Ser307Thr
NM_001135705.1:c.882G>C	NP_001129177.1:p.Gln294His
NM_001135706.1:c.920G>C	NP_001129178.1:p.Ser307Thr
NM_024722.2:c.882G>C	NP_078998.1:p.Gln294His
XM_005257673.1:c.923G>C	XP_005257730.1:p.Ser308Thr
XM_005257674.1:c.923G>C	XP_005257731.1:p.Ser308Thr
XM_005257677.1:c.920G>C	XP_005257734.1:p.Ser307Thr
XM_006722085.1:c.885G>C	XP_006722148.1:p.Gln295His
XM_006722088.1:c.783G>C	XP_006722151.1:p.Gln261His
XM_006722089.1:c.745G>C	XP_006722152.1:p.Val249Leu
XM_006722090.1:c.742G>C	XP_006722153.1:p.Val248Leu
XM_011525255.1:c.923G>C	XP_011523557.1:p.Ser308Thr
XM_011525256.1:c.923G>C	XP_011523558.1:p.Ser308Thr
XM_011525257.1:c.780G>C	XP_011523559.1:p.Gln260His
NM_001135705.2:c.882G>C	NP_001129177.1:p.Gln294His
NM_001135706.2:c.920G>C	NP_001129178.1:p.Ser307Thr
NM_001135707.2:c.*925G>C	NP_001129179.1:n.*925G>C
NM_001321352.1:c.920G>C	NP_001308281.1:p.Ser307Thr
NM_001321353.1:c.920G>C	NP_001308282.1:p.Ser307Thr
NM_024722.3:c.882G>C	NP_078998.1:p.Gln294His
XM_006722085.2:c.885G>C	XP_006722148.1:p.Gln295His
XM_017025084.1:c.941G>C	XP_016880573.1:p.Ser314Thr
XM_017025085.1:c.941G>C	XP_016880574.1:p.Ser314Thr
XM_017025086.1:c.941G>C	XP_016880575.1:p.Ser314Thr
XM_017025087.1:c.923G>C	XP_016880576.1:p.Ser308Thr
XM_017025088.1:c.920G>C	XP_016880577.1:p.Ser307Thr
XM_017025089.2:c.*755G>C	XP_016880578.1:n.*755G>C
XM_017025090.1:c.903G>C	XP_016880579.1:p.Gln301His
XM_017025091.1:c.882G>C	XP_016880580.1:p.Gln294His
XM_017025092.2:c.882G>C	XP_016880581.1:p.Gln294His
XM_017025094.1:c.*925G>C	XP_016880583.1:n.*925G>C
XM_017025095.1:c.801G>C	XP_016880584.1:p.Gln267His
XM_017025096.1:c.763G>C	XP_016880585.1:p.Val255Leu
XM_017025097.1:c.780G>C	XP_016880586.1:p.Gln260His
XM_017025098.1:c.780G>C	XP_016880587.1:p.Gln260His
XM_017025099.1:c.742G>C	XP_016880588.1:p.Val248Leu
XM_024450949.1:c.*755G>C	XP_024306717.1:n.*755G>C
NM_001135705.3:c.882G>C MANE Select	NP_001129177.1:p.Gln294His
NM_001135706.3:c.920G>C	NP_001129178.1:p.Ser307Thr
NM_001135707.3:c.*925G>C	NP_001129179.1:n.*925G>C
NM_001321352.2:c.920G>C	NP_001308281.1:p.Ser307Thr
NM_001321353.2:c.920G>C	NP_001308282.1:p.Ser307Thr
NM_024722.4:c.882G>C	NP_078998.1:p.Gln294His
NM_001378111.1:c.*925G>C	NP_001365040.1:n.*925G>C
NM_001378112.1:c.*925G>C	NP_001365041.1:n.*925G>C