Canonical Allele Identifier: CA5167874

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364392
• ClinVar RCV Id: RCV000279665 ; RCV000341656 ; RCV001584093 ; RCV002348117 ; RCV001731637
• dbSNP Id: rs13306077
• ExAC: 9:107558340 G / A
• gnomAD v2: 9-107558340-G-A
• gnomAD v3: 9-104796059-G-A
• gnomAD v4: 9-104796059-G-A
• MyVariant Identifiers: chr9:g.107558340G>A (hg19) ; chr9:g.104796059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104796059G>A , CM000671.2:g.104796059G>A	GRCh38
NC_000009.11:g.107558340G>A , CM000671.1:g.107558340G>A	GRCh37
NC_000009.10:g.106598161G>A	NCBI36
NG_007981.1:g.137097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.5376C>T MANE Select	ENSP00000363868.3:p.Thr1792=
ENST00000678995.1:c.5382C>T	ENSP00000504612.1:p.Thr1794=
ENST00000374736.7:c.5376C>T	ENSP00000363868.3:p.Thr1792=
NM_005502.3:c.5376C>T	NP_005493.2:p.Thr1792=
XM_005251773.1:c.5382C>T	XP_005251830.1:p.Thr1794=
XM_005251776.1:c.5202C>T	XP_005251833.1:p.Thr1734=
XM_011518339.1:c.5457C>T	XP_011516641.1:p.Thr1819=
XM_011518340.1:c.5457C>T	XP_011516642.1:p.Thr1819=
XM_011518341.1:c.5451C>T	XP_011516643.1:p.Thr1817=
XM_011518342.1:c.5019C>T	XP_011516644.1:p.Thr1673=
XM_011518343.1:c.5457C>T	XP_011516645.1:p.Thr1819=
XM_005251773.3:c.5382C>T	XP_005251830.1:p.Thr1794=
XM_005251776.3:c.5202C>T	XP_005251833.1:p.Thr1734=
XM_011518339.3:c.5457C>T	XP_011516641.1:p.Thr1819=
XM_011518340.3:c.5457C>T	XP_011516642.1:p.Thr1819=
XM_011518341.3:c.5451C>T	XP_011516643.1:p.Thr1817=
XM_011518342.3:c.5019C>T	XP_011516644.1:p.Thr1673=
XM_017014378.2:c.5457C>T	XP_016869867.1:p.Thr1819=
XM_017014379.2:c.5457C>T	XP_016869868.1:p.Thr1819=
XM_017014380.2:c.5457C>T	XP_016869869.1:p.Thr1819=
XM_017014381.2:c.5457C>T	XP_016869870.1:p.Thr1819=
XM_017014382.2:c.5319C>T	XP_016869871.1:p.Thr1773=
XR_001746223.1:n.5770C>T
NM_005502.4:c.5376C>T MANE Select	NP_005493.2:p.Thr1792=