Canonical Allele Identifier: CA10631958

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364332
• ClinVar RCV Id: RCV000347275 ; RCV000401483
• dbSNP Id: rs539455164
• gnomAD v2: 9-107544110-A-G
• gnomAD v3: 9-104781829-A-G
• gnomAD v4: 9-104781829-A-G
• MyVariant Identifiers: chr9:g.107544110A>G (hg19) ; chr9:g.104781829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104781829A>G , CM000671.2:g.104781829A>G	GRCh38
NC_000009.11:g.107544110A>G , CM000671.1:g.107544110A>G	GRCh37
NC_000009.10:g.106583931A>G	NCBI36
NG_007981.1:g.151327T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.*2486T>C MANE Select	ENSP00000363868.3:n.*2486T>C
ENST00000678995.1:c.*2486T>C	ENSP00000504612.1:n.*2486T>C
ENST00000374736.7:c.*2486T>C	ENSP00000363868.3:n.*2486T>C
NM_005502.3:c.*2486T>C	NP_005493.2:n.*2486T>C
XM_005251773.1:c.*2486T>C	XP_005251830.1:n.*2486T>C
XM_005251776.1:c.*2486T>C	XP_005251833.1:n.*2486T>C
XM_011518339.1:c.*2486T>C	XP_011516641.1:n.*2486T>C
XM_011518340.1:c.*2486T>C	XP_011516642.1:n.*2486T>C
XM_011518341.1:c.*2486T>C	XP_011516643.1:n.*2486T>C
XM_011518342.1:c.*2486T>C	XP_011516644.1:n.*2486T>C
XM_005251773.3:c.*2486T>C	XP_005251830.1:n.*2486T>C
XM_005251776.3:c.*2486T>C	XP_005251833.1:n.*2486T>C
XM_011518339.3:c.*2486T>C	XP_011516641.1:n.*2486T>C
XM_011518340.3:c.*2486T>C	XP_011516642.1:n.*2486T>C
XM_011518341.3:c.*2486T>C	XP_011516643.1:n.*2486T>C
XM_011518342.3:c.*2486T>C	XP_011516644.1:n.*2486T>C
XM_017014378.2:c.*2486T>C	XP_016869867.1:n.*2486T>C
XM_017014379.2:c.*2486T>C	XP_016869868.1:n.*2486T>C
XM_017014380.2:c.*2486T>C	XP_016869869.1:n.*2486T>C
XM_017014381.2:c.*2486T>C	XP_016869870.1:n.*2486T>C
XM_017014382.2:c.*2486T>C	XP_016869871.1:n.*2486T>C
NM_005502.4:c.*2486T>C MANE Select	NP_005493.2:n.*2486T>C