Canonical Allele Identifier: CA466502296

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 1789981
• ClinVar RCV Id: RCV002448379
• dbSNP Id: rs1173540519
• gnomAD v3: 9-104884495-G-A
• gnomAD v4: 9-104884495-G-A
• MyVariant Identifiers: chr9:g.107646776G>A (hg19) ; chr9:g.104884495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884495G>A , CM000671.2:g.104884495G>A	GRCh38
NC_000009.11:g.107646776G>A , CM000671.1:g.107646776G>A	GRCh37
NC_000009.10:g.106686597G>A	NCBI36
NG_007981.1:g.48661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.234C>T MANE Select	ENSP00000363868.3:p.Asn78=
ENST00000678995.1:c.234C>T	ENSP00000504612.1:p.Asn78=
ENST00000374733.1:c.54C>T	ENSP00000363865.1:p.Asn18=
ENST00000374736.7:c.234C>T	ENSP00000363868.3:p.Asn78=
ENST00000423487.6:c.234C>T	ENSP00000416623.2:p.Asn78=
NM_005502.3:c.234C>T	NP_005493.2:p.Asn78=
XM_005251773.1:c.234C>T	XP_005251830.1:p.Asn78=
XM_005251776.1:c.54C>T	XP_005251833.1:p.Asn18=
XM_011518339.1:c.309C>T	XP_011516641.1:p.Asn103=
XM_011518340.1:c.309C>T	XP_011516642.1:p.Asn103=
XM_011518341.1:c.309C>T	XP_011516643.1:p.Asn103=
XM_011518342.1:c.-61-1338C>T	XP_011516644.1:n.-61-1338C>T
XM_011518343.1:c.309C>T	XP_011516645.1:p.Asn103=
XM_011518344.1:c.309C>T	XP_011516646.1:p.Asn103=
XM_005251773.3:c.234C>T	XP_005251830.1:p.Asn78=
XM_005251776.3:c.54C>T	XP_005251833.1:p.Asn18=
XM_011518339.3:c.309C>T	XP_011516641.1:p.Asn103=
XM_011518340.3:c.309C>T	XP_011516642.1:p.Asn103=
XM_011518341.3:c.309C>T	XP_011516643.1:p.Asn103=
XM_011518342.3:c.-61-1338C>T	XP_011516644.1:n.-61-1338C>T
XM_011518344.2:c.309C>T	XP_011516646.1:p.Asn103=
XM_017014378.2:c.309C>T	XP_016869867.1:p.Asn103=
XM_017014379.2:c.309C>T	XP_016869868.1:p.Asn103=
XM_017014380.2:c.309C>T	XP_016869869.1:p.Asn103=
XM_017014381.2:c.309C>T	XP_016869870.1:p.Asn103=
XM_017014382.2:c.171C>T	XP_016869871.1:p.Asn57=
XR_001746223.1:n.622C>T
NM_005502.4:c.234C>T MANE Select	NP_005493.2:p.Asn78=