Canonical Allele Identifier: CA8611918

Gene: ACBD4

Linked Data

• dbSNP Id: rs756417725
• ExAC: 17:43220936 T / G
• gnomAD v2: 17-43220936-T-G
• gnomAD v4: 17-45143569-T-G
• MyVariant Identifiers: chr17:g.43220936T>G (hg19) ; chr17:g.45143569T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45143569T>G , CM000679.2:g.45143569T>G	GRCh38
NC_000017.10:g.43220936T>G , CM000679.1:g.43220936T>G	GRCh37
NC_000017.9:g.40576719T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321854.13:c.916T>G MANE Select	ENSP00000314440.8:p.Ter306Gly
ENST00000321854.12:c.916T>G	ENSP00000314440.8:p.Ter306Gly
ENST00000398322.7:c.916T>G	ENSP00000381367.2:p.Ter306Gly
ENST00000431281.5:c.954T>G	ENSP00000405969.1:p.Gly318=
ENST00000585553.5:n.1634T>G
ENST00000586346.5:c.954T>G	ENSP00000465484.1:p.Gly318=
ENST00000591859.5:c.954T>G	ENSP00000465610.1:p.Gly318=
ENST00000592162.5:c.776T>G	ENSP00000466305.1:p.Val259Gly
NM_001135704.1:c.954T>G	NP_001129176.1:p.Gly318=
NM_001135705.1:c.916T>G	NP_001129177.1:p.Ter306Gly
NM_001135706.1:c.954T>G	NP_001129178.1:p.Gly318=
NM_024722.2:c.916T>G	NP_078998.1:p.Ter306Gly
XM_005257673.1:c.957T>G	XP_005257730.1:p.Gly319=
XM_005257674.1:c.957T>G	XP_005257731.1:p.Gly319=
XM_005257677.1:c.954T>G	XP_005257734.1:p.Gly318=
XM_006722085.1:c.919T>G	XP_006722148.1:p.Ter307Gly
XM_006722088.1:c.817T>G	XP_006722151.1:p.Ter273Gly
XM_006722089.1:c.779T>G	XP_006722152.1:p.Val260Gly
XM_006722090.1:c.776T>G	XP_006722153.1:p.Val259Gly
XM_011525255.1:c.957T>G	XP_011523557.1:p.Gly319=
XM_011525256.1:c.957T>G	XP_011523558.1:p.Gly319=
XM_011525257.1:c.814T>G	XP_011523559.1:p.Ter272Gly
NM_001135705.2:c.916T>G	NP_001129177.1:p.Ter306Gly
NM_001135706.2:c.954T>G	NP_001129178.1:p.Gly318=
NM_001135707.2:c.*959T>G	NP_001129179.1:n.*959T>G
NM_001321352.1:c.954T>G	NP_001308281.1:p.Gly318=
NM_001321353.1:c.954T>G	NP_001308282.1:p.Gly318=
NM_024722.3:c.916T>G	NP_078998.1:p.Ter306Gly
XM_006722085.2:c.919T>G	XP_006722148.1:p.Ter307Gly
XM_017025084.1:c.975T>G	XP_016880573.1:p.Gly325=
XM_017025085.1:c.975T>G	XP_016880574.1:p.Gly325=
XM_017025086.1:c.975T>G	XP_016880575.1:p.Gly325=
XM_017025087.1:c.957T>G	XP_016880576.1:p.Gly319=
XM_017025088.1:c.954T>G	XP_016880577.1:p.Gly318=
XM_017025089.2:c.*789T>G	XP_016880578.1:n.*789T>G
XM_017025090.1:c.937T>G	XP_016880579.1:p.Ter313Gly
XM_017025091.1:c.916T>G	XP_016880580.1:p.Ter306Gly
XM_017025092.2:c.916T>G	XP_016880581.1:p.Ter306Gly
XM_017025094.1:c.*959T>G	XP_016880583.1:n.*959T>G
XM_017025095.1:c.835T>G	XP_016880584.1:p.Ter279Gly
XM_017025096.1:c.797T>G	XP_016880585.1:p.Val266Gly
XM_017025097.1:c.814T>G	XP_016880586.1:p.Ter272Gly
XM_017025098.1:c.814T>G	XP_016880587.1:p.Ter272Gly
XM_017025099.1:c.776T>G	XP_016880588.1:p.Val259Gly
XM_024450949.1:c.*789T>G	XP_024306717.1:n.*789T>G
NM_001135705.3:c.916T>G MANE Select	NP_001129177.1:p.Ter306Gly
NM_001135706.3:c.954T>G	NP_001129178.1:p.Gly318=
NM_001135707.3:c.*959T>G	NP_001129179.1:n.*959T>G
NM_001321352.2:c.954T>G	NP_001308281.1:p.Gly318=
NM_001321353.2:c.954T>G	NP_001308282.1:p.Gly318=
NM_024722.4:c.916T>G	NP_078998.1:p.Ter306Gly
NM_001378111.1:c.*959T>G	NP_001365040.1:n.*959T>G
NM_001378112.1:c.*959T>G	NP_001365041.1:n.*959T>G