Canonical Allele Identifier: CA5167475

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364377
• ClinVar RCV Id: RCV000268613 ; RCV000321342 ; RCV000879754 ; RCV001255586 ; RCV002365431
• dbSNP Id: rs34879708
• ExAC: 9:107546653 G / T
• gnomAD v2: 9-107546653-G-T
• gnomAD v3: 9-104784372-G-T
• gnomAD v4: 9-104784372-G-T
• MyVariant Identifiers: chr9:g.107546653G>T (hg19) ; chr9:g.104784372G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104784372G>T , CM000671.2:g.104784372G>T	GRCh38
NC_000009.11:g.107546653G>T , CM000671.1:g.107546653G>T	GRCh37
NC_000009.10:g.106586474G>T	NCBI36
NG_007981.1:g.148784C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.6729C>A MANE Select	ENSP00000363868.3:p.Asp2243Glu
ENST00000678995.1:c.6735C>A	ENSP00000504612.1:p.Asp2245Glu
ENST00000374736.7:c.6729C>A	ENSP00000363868.3:p.Asp2243Glu
NM_005502.3:c.6729C>A	NP_005493.2:p.Asp2243Glu
XM_005251773.1:c.6735C>A	XP_005251830.1:p.Asp2245Glu
XM_005251776.1:c.6555C>A	XP_005251833.1:p.Asp2185Glu
XM_011518339.1:c.6810C>A	XP_011516641.1:p.Asp2270Glu
XM_011518340.1:c.6810C>A	XP_011516642.1:p.Asp2270Glu
XM_011518341.1:c.6804C>A	XP_011516643.1:p.Asp2268Glu
XM_011518342.1:c.6372C>A	XP_011516644.1:p.Asp2124Glu
XM_005251773.3:c.6735C>A	XP_005251830.1:p.Asp2245Glu
XM_005251776.3:c.6555C>A	XP_005251833.1:p.Asp2185Glu
XM_011518339.3:c.6810C>A	XP_011516641.1:p.Asp2270Glu
XM_011518340.3:c.6810C>A	XP_011516642.1:p.Asp2270Glu
XM_011518341.3:c.6804C>A	XP_011516643.1:p.Asp2268Glu
XM_011518342.3:c.6372C>A	XP_011516644.1:p.Asp2124Glu
XM_017014378.2:c.6810C>A	XP_016869867.1:p.Asp2270Glu
XM_017014379.2:c.6810C>A	XP_016869868.1:p.Asp2270Glu
XM_017014380.2:c.6810C>A	XP_016869869.1:p.Asp2270Glu
XM_017014381.2:c.6810C>A	XP_016869870.1:p.Asp2270Glu
XM_017014382.2:c.6672C>A	XP_016869871.1:p.Asp2224Glu
NM_005502.4:c.6729C>A MANE Select	NP_005493.2:p.Asp2243Glu