Canonical Allele Identifier: CA5168267

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 521460
• ClinVar RCV Id: RCV001509358 ; RCV003336095 ; RCV000622845
• dbSNP Id: rs762770081
• ExAC: 9:107574868 C / T
• gnomAD v2: 9-107574868-C-T
• gnomAD v3: 9-104812587-C-T
• gnomAD v4: 9-104812587-C-T
• MyVariant Identifiers: chr9:g.107574868C>T (hg19) ; chr9:g.104812587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104812587C>T , CM000671.2:g.104812587C>T	GRCh38
NC_000009.11:g.107574868C>T , CM000671.1:g.107574868C>T	GRCh37
NC_000009.10:g.106614689C>T	NCBI36
NG_007981.1:g.120569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4037G>A MANE Select	ENSP00000363868.3:p.Gly1346Glu
ENST00000678995.1:c.4043G>A	ENSP00000504612.1:p.Gly1348Glu
ENST00000374736.7:c.4037G>A	ENSP00000363868.3:p.Gly1346Glu
NM_005502.3:c.4037G>A	NP_005493.2:p.Gly1346Glu
XM_005251773.1:c.4043G>A	XP_005251830.1:p.Gly1348Glu
XM_005251776.1:c.3863G>A	XP_005251833.1:p.Gly1288Glu
XM_011518339.1:c.4118G>A	XP_011516641.1:p.Gly1373Glu
XM_011518340.1:c.4118G>A	XP_011516642.1:p.Gly1373Glu
XM_011518341.1:c.4112G>A	XP_011516643.1:p.Gly1371Glu
XM_011518342.1:c.3680G>A	XP_011516644.1:p.Gly1227Glu
XM_011518343.1:c.4118G>A	XP_011516645.1:p.Gly1373Glu
XM_011518344.1:c.4118G>A	XP_011516646.1:p.Gly1373Glu
XM_005251773.3:c.4043G>A	XP_005251830.1:p.Gly1348Glu
XM_005251776.3:c.3863G>A	XP_005251833.1:p.Gly1288Glu
XM_011518339.3:c.4118G>A	XP_011516641.1:p.Gly1373Glu
XM_011518340.3:c.4118G>A	XP_011516642.1:p.Gly1373Glu
XM_011518341.3:c.4112G>A	XP_011516643.1:p.Gly1371Glu
XM_011518342.3:c.3680G>A	XP_011516644.1:p.Gly1227Glu
XM_011518344.2:c.4118G>A	XP_011516646.1:p.Gly1373Glu
XM_017014378.2:c.4118G>A	XP_016869867.1:p.Gly1373Glu
XM_017014379.2:c.4118G>A	XP_016869868.1:p.Gly1373Glu
XM_017014380.2:c.4118G>A	XP_016869869.1:p.Gly1373Glu
XM_017014381.2:c.4118G>A	XP_016869870.1:p.Gly1373Glu
XM_017014382.2:c.3980G>A	XP_016869871.1:p.Gly1327Glu
XR_001746223.1:n.4431G>A
NM_005502.4:c.4037G>A MANE Select	NP_005493.2:p.Gly1346Glu