Canonical Allele Identifier: CA120478

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 9485
• ClinVar RCV Id: RCV000010093
• dbSNP Id: rs2853578
• gnomAD v2: 9-107593308-T-C
• gnomAD v3: 9-104831027-T-C
• gnomAD v4: 9-104831027-T-C
• MyVariant Identifiers: chr9:g.107593308T>C (hg19) ; chr9:g.104831027T>C (hg38)
• PubMed: PMID:10431236

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831027T>C , CM000671.2:g.104831027T>C	GRCh38
NC_000009.11:g.107593308T>C , CM000671.1:g.107593308T>C	GRCh37
NC_000009.10:g.106633129T>C	NCBI36
NG_007981.1:g.102129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1790A>G MANE Select	ENSP00000363868.3:p.Gln597Arg
ENST00000678995.1:c.1790A>G	ENSP00000504612.1:p.Gln597Arg
ENST00000374736.7:c.1790A>G	ENSP00000363868.3:p.Gln597Arg
NM_005502.3:c.1790A>G	NP_005493.2:p.Gln597Arg
XM_005251773.1:c.1790A>G	XP_005251830.1:p.Gln597Arg
XM_005251776.1:c.1610A>G	XP_005251833.1:p.Gln537Arg
XM_011518339.1:c.1865A>G	XP_011516641.1:p.Gln622Arg
XM_011518340.1:c.1865A>G	XP_011516642.1:p.Gln622Arg
XM_011518341.1:c.1865A>G	XP_011516643.1:p.Gln622Arg
XM_011518342.1:c.1427A>G	XP_011516644.1:p.Gln476Arg
XM_011518343.1:c.1865A>G	XP_011516645.1:p.Gln622Arg
XM_011518344.1:c.1865A>G	XP_011516646.1:p.Gln622Arg
XM_005251773.3:c.1790A>G	XP_005251830.1:p.Gln597Arg
XM_005251776.3:c.1610A>G	XP_005251833.1:p.Gln537Arg
XM_011518339.3:c.1865A>G	XP_011516641.1:p.Gln622Arg
XM_011518340.3:c.1865A>G	XP_011516642.1:p.Gln622Arg
XM_011518341.3:c.1865A>G	XP_011516643.1:p.Gln622Arg
XM_011518342.3:c.1427A>G	XP_011516644.1:p.Gln476Arg
XM_011518344.2:c.1865A>G	XP_011516646.1:p.Gln622Arg
XM_017014378.2:c.1865A>G	XP_016869867.1:p.Gln622Arg
XM_017014379.2:c.1865A>G	XP_016869868.1:p.Gln622Arg
XM_017014380.2:c.1865A>G	XP_016869869.1:p.Gln622Arg
XM_017014381.2:c.1865A>G	XP_016869870.1:p.Gln622Arg
XM_017014382.2:c.1727A>G	XP_016869871.1:p.Gln576Arg
XR_001746223.1:n.2178A>G
NM_005502.4:c.1790A>G MANE Select	NP_005493.2:p.Gln597Arg