Canonical Allele Identifier: CA5167957

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364396
• ClinVar RCV Id: RCV000313821 ; RCV000399996 ; RCV001485252 ; RCV004022087
• dbSNP Id: rs138422574
• ExAC: 9:107560803 C / T
• gnomAD v2: 9-107560803-C-T
• gnomAD v3: 9-104798522-C-T
• gnomAD v4: 9-104798522-C-T
• MyVariant Identifiers: chr9:g.107560803C>T (hg19) ; chr9:g.104798522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798522C>T , CM000671.2:g.104798522C>T	GRCh38
NC_000009.11:g.107560803C>T , CM000671.1:g.107560803C>T	GRCh37
NC_000009.10:g.106600624C>T	NCBI36
NG_007981.1:g.134634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.5020G>A MANE Select	ENSP00000363868.3:p.Val1674Ile
ENST00000678995.1:c.5026G>A	ENSP00000504612.1:p.Val1676Ile
ENST00000374736.7:c.5020G>A	ENSP00000363868.3:p.Val1674Ile
NM_005502.3:c.5020G>A	NP_005493.2:p.Val1674Ile
XM_005251773.1:c.5026G>A	XP_005251830.1:p.Val1676Ile
XM_005251776.1:c.4846G>A	XP_005251833.1:p.Val1616Ile
XM_011518339.1:c.5101G>A	XP_011516641.1:p.Val1701Ile
XM_011518340.1:c.5101G>A	XP_011516642.1:p.Val1701Ile
XM_011518341.1:c.5095G>A	XP_011516643.1:p.Val1699Ile
XM_011518342.1:c.4663G>A	XP_011516644.1:p.Val1555Ile
XM_011518343.1:c.5101G>A	XP_011516645.1:p.Val1701Ile
XM_005251773.3:c.5026G>A	XP_005251830.1:p.Val1676Ile
XM_005251776.3:c.4846G>A	XP_005251833.1:p.Val1616Ile
XM_011518339.3:c.5101G>A	XP_011516641.1:p.Val1701Ile
XM_011518340.3:c.5101G>A	XP_011516642.1:p.Val1701Ile
XM_011518341.3:c.5095G>A	XP_011516643.1:p.Val1699Ile
XM_011518342.3:c.4663G>A	XP_011516644.1:p.Val1555Ile
XM_017014378.2:c.5101G>A	XP_016869867.1:p.Val1701Ile
XM_017014379.2:c.5101G>A	XP_016869868.1:p.Val1701Ile
XM_017014380.2:c.5101G>A	XP_016869869.1:p.Val1701Ile
XM_017014381.2:c.5101G>A	XP_016869870.1:p.Val1701Ile
XM_017014382.2:c.4963G>A	XP_016869871.1:p.Val1655Ile
XR_001746223.1:n.5414G>A
NM_005502.4:c.5020G>A MANE Select	NP_005493.2:p.Val1674Ile