Canonical Allele Identifier: CA5167969

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 1919995
• ClinVar RCV Id: RCV002604028
• dbSNP Id: rs571750277
• ExAC: 9:107560894 C / T
• gnomAD v2: 9-107560894-C-T
• gnomAD v4: 9-104798613-C-T
• MyVariant Identifiers: chr9:g.107560894C>T (hg19) ; chr9:g.104798613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798613C>T , CM000671.2:g.104798613C>T	GRCh38
NC_000009.11:g.107560894C>T , CM000671.1:g.107560894C>T	GRCh37
NC_000009.10:g.106600715C>T	NCBI36
NG_007981.1:g.134543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4944-15G>A MANE Select	ENSP00000363868.3:n.4944-15G>A
ENST00000678995.1:c.4950-15G>A	ENSP00000504612.1:n.4950-15G>A
ENST00000374736.7:c.4944-15G>A	ENSP00000363868.3:n.4944-15G>A
NM_005502.3:c.4944-15G>A	NP_005493.2:n.4944-15G>A
XM_005251773.1:c.4950-15G>A	XP_005251830.1:n.4950-15G>A
XM_005251776.1:c.4770-15G>A	XP_005251833.1:n.4770-15G>A
XM_011518339.1:c.5025-15G>A	XP_011516641.1:n.5025-15G>A
XM_011518340.1:c.5025-15G>A	XP_011516642.1:n.5025-15G>A
XM_011518341.1:c.5019-15G>A	XP_011516643.1:n.5019-15G>A
XM_011518342.1:c.4587-15G>A	XP_011516644.1:n.4587-15G>A
XM_011518343.1:c.5025-15G>A	XP_011516645.1:n.5025-15G>A
XM_005251773.3:c.4950-15G>A	XP_005251830.1:n.4950-15G>A
XM_005251776.3:c.4770-15G>A	XP_005251833.1:n.4770-15G>A
XM_011518339.3:c.5025-15G>A	XP_011516641.1:n.5025-15G>A
XM_011518340.3:c.5025-15G>A	XP_011516642.1:n.5025-15G>A
XM_011518341.3:c.5019-15G>A	XP_011516643.1:n.5019-15G>A
XM_011518342.3:c.4587-15G>A	XP_011516644.1:n.4587-15G>A
XM_017014378.2:c.5025-15G>A	XP_016869867.1:n.5025-15G>A
XM_017014379.2:c.5025-15G>A	XP_016869868.1:n.5025-15G>A
XM_017014380.2:c.5025-15G>A	XP_016869869.1:n.5025-15G>A
XM_017014381.2:c.5025-15G>A	XP_016869870.1:n.5025-15G>A
XM_017014382.2:c.4887-15G>A	XP_016869871.1:n.4887-15G>A
XR_001746223.1:n.5338-15G>A
NM_005502.4:c.4944-15G>A MANE Select	NP_005493.2:n.4944-15G>A