Canonical Allele Identifier: CA5168396

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364414
• ClinVar RCV Id: RCV000336016 ; RCV000404479 ; RCV000779670 ; RCV001093094
• dbSNP Id: rs143180998
• ExAC: 9:107578618 C / T
• gnomAD v2: 9-107578618-C-T
• gnomAD v3: 9-104816337-C-T
• gnomAD v4: 9-104816337-C-T
• MyVariant Identifiers: chr9:g.107578618C>T (hg19) ; chr9:g.104816337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104816337C>T , CM000671.2:g.104816337C>T	GRCh38
NC_000009.11:g.107578618C>T , CM000671.1:g.107578618C>T	GRCh37
NC_000009.10:g.106618439C>T	NCBI36
NG_007981.1:g.116819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.3544G>A MANE Select	ENSP00000363868.3:p.Ala1182Thr
ENST00000678995.1:c.3550G>A	ENSP00000504612.1:p.Ala1184Thr
ENST00000374736.7:c.3544G>A	ENSP00000363868.3:p.Ala1182Thr
NM_005502.3:c.3544G>A	NP_005493.2:p.Ala1182Thr
XM_005251773.1:c.3550G>A	XP_005251830.1:p.Ala1184Thr
XM_005251776.1:c.3370G>A	XP_005251833.1:p.Ala1124Thr
XM_011518339.1:c.3625G>A	XP_011516641.1:p.Ala1209Thr
XM_011518340.1:c.3625G>A	XP_011516642.1:p.Ala1209Thr
XM_011518341.1:c.3619G>A	XP_011516643.1:p.Ala1207Thr
XM_011518342.1:c.3187G>A	XP_011516644.1:p.Ala1063Thr
XM_011518343.1:c.3625G>A	XP_011516645.1:p.Ala1209Thr
XM_011518344.1:c.3625G>A	XP_011516646.1:p.Ala1209Thr
XM_005251773.3:c.3550G>A	XP_005251830.1:p.Ala1184Thr
XM_005251776.3:c.3370G>A	XP_005251833.1:p.Ala1124Thr
XM_011518339.3:c.3625G>A	XP_011516641.1:p.Ala1209Thr
XM_011518340.3:c.3625G>A	XP_011516642.1:p.Ala1209Thr
XM_011518341.3:c.3619G>A	XP_011516643.1:p.Ala1207Thr
XM_011518342.3:c.3187G>A	XP_011516644.1:p.Ala1063Thr
XM_011518344.2:c.3625G>A	XP_011516646.1:p.Ala1209Thr
XM_017014378.2:c.3625G>A	XP_016869867.1:p.Ala1209Thr
XM_017014379.2:c.3625G>A	XP_016869868.1:p.Ala1209Thr
XM_017014380.2:c.3625G>A	XP_016869869.1:p.Ala1209Thr
XM_017014381.2:c.3625G>A	XP_016869870.1:p.Ala1209Thr
XM_017014382.2:c.3487G>A	XP_016869871.1:p.Ala1163Thr
XR_001746223.1:n.3938G>A
NM_005502.4:c.3544G>A MANE Select	NP_005493.2:p.Ala1182Thr