Canonical Allele Identifier: CA5169463

Gene: ABCA1

Linked Data

• dbSNP Id: rs751367482
• ExAC: 9:107646762 C / T
• gnomAD v2: 9-107646762-C-T
• gnomAD v3: 9-104884481-C-T
• gnomAD v4: 9-104884481-C-T
• COSMIC: COSM3168077 ; COSM3168078
• MyVariant Identifiers: chr9:g.107646762C>T (hg19) ; chr9:g.104884481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884481C>T , CM000671.2:g.104884481C>T	GRCh38
NC_000009.11:g.107646762C>T , CM000671.1:g.107646762C>T	GRCh37
NC_000009.10:g.106686583C>T	NCBI36
NG_007981.1:g.48675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.248G>A MANE Select	ENSP00000363868.3:p.Arg83His
ENST00000678995.1:c.248G>A	ENSP00000504612.1:p.Arg83His
ENST00000374733.1:c.68G>A	ENSP00000363865.1:p.Arg23His
ENST00000374736.7:c.248G>A	ENSP00000363868.3:p.Arg83His
ENST00000423487.6:c.248G>A	ENSP00000416623.2:p.Arg83His
NM_005502.3:c.248G>A	NP_005493.2:p.Arg83His
XM_005251773.1:c.248G>A	XP_005251830.1:p.Arg83His
XM_005251776.1:c.68G>A	XP_005251833.1:p.Arg23His
XM_011518339.1:c.323G>A	XP_011516641.1:p.Arg108His
XM_011518340.1:c.323G>A	XP_011516642.1:p.Arg108His
XM_011518341.1:c.323G>A	XP_011516643.1:p.Arg108His
XM_011518342.1:c.-61-1324G>A	XP_011516644.1:n.-61-1324G>A
XM_011518343.1:c.323G>A	XP_011516645.1:p.Arg108His
XM_011518344.1:c.323G>A	XP_011516646.1:p.Arg108His
XM_005251773.3:c.248G>A	XP_005251830.1:p.Arg83His
XM_005251776.3:c.68G>A	XP_005251833.1:p.Arg23His
XM_011518339.3:c.323G>A	XP_011516641.1:p.Arg108His
XM_011518340.3:c.323G>A	XP_011516642.1:p.Arg108His
XM_011518341.3:c.323G>A	XP_011516643.1:p.Arg108His
XM_011518342.3:c.-61-1324G>A	XP_011516644.1:n.-61-1324G>A
XM_011518344.2:c.323G>A	XP_011516646.1:p.Arg108His
XM_017014378.2:c.323G>A	XP_016869867.1:p.Arg108His
XM_017014379.2:c.323G>A	XP_016869868.1:p.Arg108His
XM_017014380.2:c.323G>A	XP_016869869.1:p.Arg108His
XM_017014381.2:c.323G>A	XP_016869870.1:p.Arg108His
XM_017014382.2:c.185G>A	XP_016869871.1:p.Arg62His
XR_001746223.1:n.636G>A
NM_005502.4:c.248G>A MANE Select	NP_005493.2:p.Arg83His