Canonical Allele Identifier: CA212915

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 9484
• ClinVar RCV Id: RCV000010092
• dbSNP Id: rs796051872
• MyVariant Identifiers: chr9:g.107578423C>G (hg19) ; chr9:g.104816142C>G (hg38)
• PubMed: PMID:10431236

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104816142C>G , CM000671.2:g.104816142C>G	GRCh38
NC_000009.11:g.107578423C>G , CM000671.1:g.107578423C>G	GRCh37
NC_000009.10:g.106618244C>G	NCBI36
NG_007981.1:g.117014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.3738+1G>C MANE Select	ENSP00000363868.3:n.3738+1G>C
ENST00000678995.1:c.3744+1G>C	ENSP00000504612.1:n.3744+1G>C
ENST00000374736.7:c.3738+1G>C	ENSP00000363868.3:n.3738+1G>C
NM_005502.3:c.3738+1G>C	NP_005493.2:n.3738+1G>C
XM_005251773.1:c.3744+1G>C	XP_005251830.1:n.3744+1G>C
XM_005251776.1:c.3564+1G>C	XP_005251833.1:n.3564+1G>C
XM_011518339.1:c.3819+1G>C	XP_011516641.1:n.3819+1G>C
XM_011518340.1:c.3819+1G>C	XP_011516642.1:n.3819+1G>C
XM_011518341.1:c.3813+1G>C	XP_011516643.1:n.3813+1G>C
XM_011518342.1:c.3381+1G>C	XP_011516644.1:n.3381+1G>C
XM_011518343.1:c.3819+1G>C	XP_011516645.1:n.3819+1G>C
XM_011518344.1:c.3819+1G>C	XP_011516646.1:n.3819+1G>C
XM_005251773.3:c.3744+1G>C	XP_005251830.1:n.3744+1G>C
XM_005251776.3:c.3564+1G>C	XP_005251833.1:n.3564+1G>C
XM_011518339.3:c.3819+1G>C	XP_011516641.1:n.3819+1G>C
XM_011518340.3:c.3819+1G>C	XP_011516642.1:n.3819+1G>C
XM_011518341.3:c.3813+1G>C	XP_011516643.1:n.3813+1G>C
XM_011518342.3:c.3381+1G>C	XP_011516644.1:n.3381+1G>C
XM_011518344.2:c.3819+1G>C	XP_011516646.1:n.3819+1G>C
XM_017014378.2:c.3819+1G>C	XP_016869867.1:n.3819+1G>C
XM_017014379.2:c.3819+1G>C	XP_016869868.1:n.3819+1G>C
XM_017014380.2:c.3819+1G>C	XP_016869869.1:n.3819+1G>C
XM_017014381.2:c.3819+1G>C	XP_016869870.1:n.3819+1G>C
XM_017014382.2:c.3681+1G>C	XP_016869871.1:n.3681+1G>C
XR_001746223.1:n.4132+1G>C
NM_005502.4:c.3738+1G>C MANE Select	NP_005493.2:n.3738+1G>C