Canonical Allele Identifier: CA5167954

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364394
• ClinVar RCV Id: RCV000340403 ; RCV000590457 ; RCV000396628
• dbSNP Id: rs150125857
• ExAC: 9:107560784 C / T
• gnomAD v2: 9-107560784-C-T
• gnomAD v3: 9-104798503-C-T
• gnomAD v4: 9-104798503-C-T
• MyVariant Identifiers: chr9:g.107560784C>T (hg19) ; chr9:g.104798503C>T (hg38)
• PubMed: PMID:15297675 ; PMID:26350511

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798503C>T , CM000671.2:g.104798503C>T	GRCh38
NC_000009.11:g.107560784C>T , CM000671.1:g.107560784C>T	GRCh37
NC_000009.10:g.106600605C>T	NCBI36
NG_007981.1:g.134653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.5039G>A MANE Select	ENSP00000363868.3:p.Arg1680Gln
ENST00000678995.1:c.5045G>A	ENSP00000504612.1:p.Arg1682Gln
ENST00000374736.7:c.5039G>A	ENSP00000363868.3:p.Arg1680Gln
NM_005502.3:c.5039G>A	NP_005493.2:p.Arg1680Gln
XM_005251773.1:c.5045G>A	XP_005251830.1:p.Arg1682Gln
XM_005251776.1:c.4865G>A	XP_005251833.1:p.Arg1622Gln
XM_011518339.1:c.5120G>A	XP_011516641.1:p.Arg1707Gln
XM_011518340.1:c.5120G>A	XP_011516642.1:p.Arg1707Gln
XM_011518341.1:c.5114G>A	XP_011516643.1:p.Arg1705Gln
XM_011518342.1:c.4682G>A	XP_011516644.1:p.Arg1561Gln
XM_011518343.1:c.5120G>A	XP_011516645.1:p.Arg1707Gln
XM_005251773.3:c.5045G>A	XP_005251830.1:p.Arg1682Gln
XM_005251776.3:c.4865G>A	XP_005251833.1:p.Arg1622Gln
XM_011518339.3:c.5120G>A	XP_011516641.1:p.Arg1707Gln
XM_011518340.3:c.5120G>A	XP_011516642.1:p.Arg1707Gln
XM_011518341.3:c.5114G>A	XP_011516643.1:p.Arg1705Gln
XM_011518342.3:c.4682G>A	XP_011516644.1:p.Arg1561Gln
XM_017014378.2:c.5120G>A	XP_016869867.1:p.Arg1707Gln
XM_017014379.2:c.5120G>A	XP_016869868.1:p.Arg1707Gln
XM_017014380.2:c.5120G>A	XP_016869869.1:p.Arg1707Gln
XM_017014381.2:c.5120G>A	XP_016869870.1:p.Arg1707Gln
XM_017014382.2:c.4982G>A	XP_016869871.1:p.Arg1661Gln
XR_001746223.1:n.5433G>A
NM_005502.4:c.5039G>A MANE Select	NP_005493.2:p.Arg1680Gln