Canonical Allele Identifier: CA14402900
Gene: ACBD4 HGNC NCBI

Linked Data

dbSNP Id: rs4986172
gnomAD v2: 17-43216281-C-T
gnomAD v3: 17-45138914-C-T
gnomAD v4: 17-45138914-C-T
MyVariant Identifiers: chr17:g.43216281C>T (hg19) chr17:g.45138914C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45138914C>T , CM000679.2:g.45138914C>T GRCh38
NC_000017.10:g.43216281C>T , CM000679.1:g.43216281C>T GRCh37
NC_000017.9:g.40571807C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321854.13:c.650-107C>T MANE Select ENSP00000314440.8:n.650-107C>T
ENST00000321854.12:c.650-107C>T ENSP00000314440.8:n.650-107C>T
ENST00000376955.8:c.640-107C>T ENSP00000366154.3:n.640-107C>T
ENST00000398322.7:c.650-107C>T ENSP00000381367.2:n.650-107C>T
ENST00000431281.5:c.688-107C>T ENSP00000405969.1:n.688-107C>T
ENST00000585553.5:n.1368-107C>T
ENST00000586346.5:c.688-107C>T ENSP00000465484.1:n.688-107C>T
ENST00000591859.5:c.688-107C>T ENSP00000465610.1:n.688-107C>T
ENST00000592162.5:c.649+926C>T ENSP00000466305.1:n.649+926C>T
ENST00000619916.4:c.640-107C>T ENSP00000482750.1:n.640-107C>T
NM_001135704.1:c.688-107C>T NP_001129176.1:n.688-107C>T
NM_001135705.1:c.650-107C>T NP_001129177.1:n.650-107C>T
NM_001135706.1:c.688-107C>T NP_001129178.1:n.688-107C>T
NM_001135707.1:c.640-107C>T NP_001129179.1:n.640-107C>T
NM_024722.2:c.650-107C>T NP_078998.1:n.650-107C>T
XM_005257673.1:c.691-107C>T XP_005257730.1:n.691-107C>T
XM_005257674.1:c.691-107C>T XP_005257731.1:n.691-107C>T
XM_005257677.1:c.688-107C>T XP_005257734.1:n.688-107C>T
XM_006722085.1:c.653-107C>T XP_006722148.1:n.653-107C>T
XM_006722087.2:c.691-107C>T XP_006722150.1:n.691-107C>T
XM_006722088.1:c.690+926C>T XP_006722151.1:n.690+926C>T
XM_006722089.1:c.652+926C>T XP_006722152.1:n.652+926C>T
XM_006722090.1:c.649+926C>T XP_006722153.1:n.649+926C>T
XM_011525255.1:c.691-107C>T XP_011523557.1:n.691-107C>T
XM_011525256.1:c.691-107C>T XP_011523558.1:n.691-107C>T
XM_011525257.1:c.687+926C>T XP_011523559.1:n.687+926C>T
NM_001135705.2:c.650-107C>T NP_001129177.1:n.650-107C>T
NM_001135706.2:c.688-107C>T NP_001129178.1:n.688-107C>T
NM_001135707.2:c.640-107C>T NP_001129179.1:n.640-107C>T
NM_001321352.1:c.688-107C>T NP_001308281.1:n.688-107C>T
NM_001321353.1:c.688-107C>T NP_001308282.1:n.688-107C>T
NM_024722.3:c.650-107C>T NP_078998.1:n.650-107C>T
XM_006722085.2:c.653-107C>T XP_006722148.1:n.653-107C>T
XM_017025084.1:c.709-107C>T XP_016880573.1:n.709-107C>T
XM_017025085.1:c.709-107C>T XP_016880574.1:n.709-107C>T
XM_017025086.1:c.709-107C>T XP_016880575.1:n.709-107C>T
XM_017025087.1:c.691-107C>T XP_016880576.1:n.691-107C>T
XM_017025088.1:c.688-107C>T XP_016880577.1:n.688-107C>T
XM_017025089.2:c.653-107C>T XP_016880578.1:n.653-107C>T
XM_017025090.1:c.671-107C>T XP_016880579.1:n.671-107C>T
XM_017025091.1:c.650-107C>T XP_016880580.1:n.650-107C>T
XM_017025092.2:c.650-107C>T XP_016880581.1:n.650-107C>T
XM_017025093.1:c.709-107C>T XP_016880582.1:n.709-107C>T
XM_017025094.1:c.688-107C>T XP_016880583.1:n.688-107C>T
XM_017025095.1:c.708+926C>T XP_016880584.1:n.708+926C>T
XM_017025096.1:c.670+926C>T XP_016880585.1:n.670+926C>T
XM_017025097.1:c.687+926C>T XP_016880586.1:n.687+926C>T
XM_017025098.1:c.687+926C>T XP_016880587.1:n.687+926C>T
XM_017025099.1:c.649+926C>T XP_016880588.1:n.649+926C>T
XM_024450949.1:c.650-107C>T XP_024306717.1:n.650-107C>T
XM_024450950.1:c.454-107C>T XP_024306718.1:n.454-107C>T
NM_001135705.3:c.650-107C>T MANE Select NP_001129177.1:n.650-107C>T
NM_001135706.3:c.688-107C>T NP_001129178.1:n.688-107C>T
NM_001135707.3:c.640-107C>T NP_001129179.1:n.640-107C>T
NM_001321352.2:c.688-107C>T NP_001308281.1:n.688-107C>T
NM_001321353.2:c.688-107C>T NP_001308282.1:n.688-107C>T
NM_024722.4:c.650-107C>T NP_078998.1:n.650-107C>T
NM_001378111.1:c.688-107C>T NP_001365040.1:n.688-107C>T
NM_001378112.1:c.454-107C>T NP_001365041.1:n.454-107C>T
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