Canonical Allele Identifier: CA374322341

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 1783431
• ClinVar RCV Id: RCV002421740
• gnomAD v4: 9-104829071-C-T
• MyVariant Identifiers: chr9:g.107591352C>T (hg19) ; chr9:g.104829071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104829071C>T , CM000671.2:g.104829071C>T	GRCh38
NC_000009.11:g.107591352C>T , CM000671.1:g.107591352C>T	GRCh37
NC_000009.10:g.106631173C>T	NCBI36
NG_007981.1:g.104085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1960G>A MANE Select	ENSP00000363868.3:p.Val654Met
ENST00000678995.1:c.1960G>A	ENSP00000504612.1:p.Val654Met
ENST00000374736.7:c.1960G>A	ENSP00000363868.3:p.Val654Met
ENST00000494467.1:n.133G>A
NM_005502.3:c.1960G>A	NP_005493.2:p.Val654Met
XM_005251773.1:c.1960G>A	XP_005251830.1:p.Val654Met
XM_005251776.1:c.1780G>A	XP_005251833.1:p.Val594Met
XM_011518339.1:c.2035G>A	XP_011516641.1:p.Val679Met
XM_011518340.1:c.2035G>A	XP_011516642.1:p.Val679Met
XM_011518341.1:c.2035G>A	XP_011516643.1:p.Val679Met
XM_011518342.1:c.1597G>A	XP_011516644.1:p.Val533Met
XM_011518343.1:c.2035G>A	XP_011516645.1:p.Val679Met
XM_011518344.1:c.2035G>A	XP_011516646.1:p.Val679Met
XM_005251773.3:c.1960G>A	XP_005251830.1:p.Val654Met
XM_005251776.3:c.1780G>A	XP_005251833.1:p.Val594Met
XM_011518339.3:c.2035G>A	XP_011516641.1:p.Val679Met
XM_011518340.3:c.2035G>A	XP_011516642.1:p.Val679Met
XM_011518341.3:c.2035G>A	XP_011516643.1:p.Val679Met
XM_011518342.3:c.1597G>A	XP_011516644.1:p.Val533Met
XM_011518344.2:c.2035G>A	XP_011516646.1:p.Val679Met
XM_017014378.2:c.2035G>A	XP_016869867.1:p.Val679Met
XM_017014379.2:c.2035G>A	XP_016869868.1:p.Val679Met
XM_017014380.2:c.2035G>A	XP_016869869.1:p.Val679Met
XM_017014381.2:c.2035G>A	XP_016869870.1:p.Val679Met
XM_017014382.2:c.1897G>A	XP_016869871.1:p.Val633Met
XR_001746223.1:n.2348G>A
NM_005502.4:c.1960G>A MANE Select	NP_005493.2:p.Val654Met