Canonical Allele Identifier: CA5168562

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364423
• ClinVar RCV Id: RCV000284909 ; RCV000374682 ; RCV001192758 ; RCV001662347
• dbSNP Id: rs140365800
• ExAC: 9:107582258 T / C
• gnomAD v2: 9-107582258-T-C
• gnomAD v3: 9-104819977-T-C
• gnomAD v4: 9-104819977-T-C
• MyVariant Identifiers: chr9:g.107582258T>C (hg19) ; chr9:g.104819977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104819977T>C , CM000671.2:g.104819977T>C	GRCh38
NC_000009.11:g.107582258T>C , CM000671.1:g.107582258T>C	GRCh37
NC_000009.10:g.106622079T>C	NCBI36
NG_007981.1:g.113179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.3053A>G MANE Select	ENSP00000363868.3:p.Asp1018Gly
ENST00000678995.1:c.3053A>G	ENSP00000504612.1:p.Asp1018Gly
ENST00000374736.7:c.3053A>G	ENSP00000363868.3:p.Asp1018Gly
NM_005502.3:c.3053A>G	NP_005493.2:p.Asp1018Gly
XM_005251773.1:c.3053A>G	XP_005251830.1:p.Asp1018Gly
XM_005251776.1:c.2873A>G	XP_005251833.1:p.Asp958Gly
XM_011518339.1:c.3128A>G	XP_011516641.1:p.Asp1043Gly
XM_011518340.1:c.3128A>G	XP_011516642.1:p.Asp1043Gly
XM_011518341.1:c.3128A>G	XP_011516643.1:p.Asp1043Gly
XM_011518342.1:c.2690A>G	XP_011516644.1:p.Asp897Gly
XM_011518343.1:c.3128A>G	XP_011516645.1:p.Asp1043Gly
XM_011518344.1:c.3128A>G	XP_011516646.1:p.Asp1043Gly
XM_005251773.3:c.3053A>G	XP_005251830.1:p.Asp1018Gly
XM_005251776.3:c.2873A>G	XP_005251833.1:p.Asp958Gly
XM_011518339.3:c.3128A>G	XP_011516641.1:p.Asp1043Gly
XM_011518340.3:c.3128A>G	XP_011516642.1:p.Asp1043Gly
XM_011518341.3:c.3128A>G	XP_011516643.1:p.Asp1043Gly
XM_011518342.3:c.2690A>G	XP_011516644.1:p.Asp897Gly
XM_011518344.2:c.3128A>G	XP_011516646.1:p.Asp1043Gly
XM_017014378.2:c.3128A>G	XP_016869867.1:p.Asp1043Gly
XM_017014379.2:c.3128A>G	XP_016869868.1:p.Asp1043Gly
XM_017014380.2:c.3128A>G	XP_016869869.1:p.Asp1043Gly
XM_017014381.2:c.3128A>G	XP_016869870.1:p.Asp1043Gly
XM_017014382.2:c.2990A>G	XP_016869871.1:p.Asp997Gly
XR_001746223.1:n.3441A>G
NM_005502.4:c.3053A>G MANE Select	NP_005493.2:p.Asp1018Gly