Canonical Allele Identifier: CA466500906

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 1750528
• ClinVar RCV Id: RCV002355832
• dbSNP Id: rs1829370740
• gnomAD v3: 9-104790924-A-G
• gnomAD v4: 9-104790924-A-G
• MyVariant Identifiers: chr9:g.107553205A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104790924A>G , CM000671.2:g.104790924A>G	GRCh38
NC_000009.11:g.107553205A>G , CM000671.1:g.107553205A>G	GRCh37
NC_000009.10:g.106593026A>G	NCBI36
NG_007981.1:g.142232T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.5925T>C MANE Select	ENSP00000363868.3:p.Asn1975=
ENST00000678995.1:c.5931T>C	ENSP00000504612.1:p.Asn1977=
ENST00000374736.7:c.5925T>C	ENSP00000363868.3:p.Asn1975=
NM_005502.3:c.5925T>C	NP_005493.2:p.Asn1975=
XM_005251773.1:c.5931T>C	XP_005251830.1:p.Asn1977=
XM_005251776.1:c.5751T>C	XP_005251833.1:p.Asn1917=
XM_011518339.1:c.6006T>C	XP_011516641.1:p.Asn2002=
XM_011518340.1:c.6006T>C	XP_011516642.1:p.Asn2002=
XM_011518341.1:c.6000T>C	XP_011516643.1:p.Asn2000=
XM_011518342.1:c.5568T>C	XP_011516644.1:p.Asn1856=
XM_011518343.1:c.6006T>C	XP_011516645.1:p.Asn2002=
XM_005251773.3:c.5931T>C	XP_005251830.1:p.Asn1977=
XM_005251776.3:c.5751T>C	XP_005251833.1:p.Asn1917=
XM_011518339.3:c.6006T>C	XP_011516641.1:p.Asn2002=
XM_011518340.3:c.6006T>C	XP_011516642.1:p.Asn2002=
XM_011518341.3:c.6000T>C	XP_011516643.1:p.Asn2000=
XM_011518342.3:c.5568T>C	XP_011516644.1:p.Asn1856=
XM_017014378.2:c.6006T>C	XP_016869867.1:p.Asn2002=
XM_017014379.2:c.6006T>C	XP_016869868.1:p.Asn2002=
XM_017014380.2:c.6006T>C	XP_016869869.1:p.Asn2002=
XM_017014381.2:c.6006T>C	XP_016869870.1:p.Asn2002=
XM_017014382.2:c.5868T>C	XP_016869871.1:p.Asn1956=
XR_001746223.1:n.6319T>C
NM_005502.4:c.5925T>C MANE Select	NP_005493.2:p.Asn1975=