Canonical Allele Identifier: CA5168472

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364419
• ClinVar RCV Id: RCV000271776 ; RCV000331552 ; RCV002058756
• dbSNP Id: rs13306073
• ExAC: 9:107581120 C / T
• gnomAD v2: 9-107581120-C-T
• gnomAD v3: 9-104818839-C-T
• gnomAD v4: 9-104818839-C-T
• MyVariant Identifiers: chr9:g.107581120C>T (hg19) ; chr9:g.104818839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104818839C>T , CM000671.2:g.104818839C>T	GRCh38
NC_000009.11:g.107581120C>T , CM000671.1:g.107581120C>T	GRCh37
NC_000009.10:g.106620941C>T	NCBI36
NG_007981.1:g.114317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.3286G>A MANE Select	ENSP00000363868.3:p.Val1096Ile
ENST00000678995.1:c.3286G>A	ENSP00000504612.1:p.Val1096Ile
ENST00000374736.7:c.3286G>A	ENSP00000363868.3:p.Val1096Ile
NM_005502.3:c.3286G>A	NP_005493.2:p.Val1096Ile
XM_005251773.1:c.3286G>A	XP_005251830.1:p.Val1096Ile
XM_005251776.1:c.3106G>A	XP_005251833.1:p.Val1036Ile
XM_011518339.1:c.3361G>A	XP_011516641.1:p.Val1121Ile
XM_011518340.1:c.3361G>A	XP_011516642.1:p.Val1121Ile
XM_011518341.1:c.3361G>A	XP_011516643.1:p.Val1121Ile
XM_011518342.1:c.2923G>A	XP_011516644.1:p.Val975Ile
XM_011518343.1:c.3361G>A	XP_011516645.1:p.Val1121Ile
XM_011518344.1:c.3361G>A	XP_011516646.1:p.Val1121Ile
XM_005251773.3:c.3286G>A	XP_005251830.1:p.Val1096Ile
XM_005251776.3:c.3106G>A	XP_005251833.1:p.Val1036Ile
XM_011518339.3:c.3361G>A	XP_011516641.1:p.Val1121Ile
XM_011518340.3:c.3361G>A	XP_011516642.1:p.Val1121Ile
XM_011518341.3:c.3361G>A	XP_011516643.1:p.Val1121Ile
XM_011518342.3:c.2923G>A	XP_011516644.1:p.Val975Ile
XM_011518344.2:c.3361G>A	XP_011516646.1:p.Val1121Ile
XM_017014378.2:c.3361G>A	XP_016869867.1:p.Val1121Ile
XM_017014379.2:c.3361G>A	XP_016869868.1:p.Val1121Ile
XM_017014380.2:c.3361G>A	XP_016869869.1:p.Val1121Ile
XM_017014381.2:c.3361G>A	XP_016869870.1:p.Val1121Ile
XM_017014382.2:c.3223G>A	XP_016869871.1:p.Val1075Ile
XR_001746223.1:n.3674G>A
NM_005502.4:c.3286G>A MANE Select	NP_005493.2:p.Val1096Ile