Canonical Allele Identifier: CA5168768

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364432
• ClinVar RCV Id: RCV000283311 ; RCV000378031 ; RCV002058758
• dbSNP Id: rs2066718
• ExAC: 9:107589255 C / G
• gnomAD v2: 9-107589255-C-G
• gnomAD v3: 9-104826974-C-G
• gnomAD v4: 9-104826974-C-G
• MyVariant Identifiers: chr9:g.107589255C>G (hg19) ; chr9:g.104826974C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104826974C>G , CM000671.2:g.104826974C>G	GRCh38
NC_000009.11:g.107589255C>G , CM000671.1:g.107589255C>G	GRCh37
NC_000009.10:g.106629076C>G	NCBI36
NG_007981.1:g.106182G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.2311G>C MANE Select	ENSP00000363868.3:p.Val771Leu
ENST00000678995.1:c.2311G>C	ENSP00000504612.1:p.Val771Leu
ENST00000374736.7:c.2311G>C	ENSP00000363868.3:p.Val771Leu
ENST00000494467.1:n.484G>C
NM_005502.3:c.2311G>C	NP_005493.2:p.Val771Leu
XM_005251773.1:c.2311G>C	XP_005251830.1:p.Val771Leu
XM_005251776.1:c.2131G>C	XP_005251833.1:p.Val711Leu
XM_011518339.1:c.2386G>C	XP_011516641.1:p.Val796Leu
XM_011518340.1:c.2386G>C	XP_011516642.1:p.Val796Leu
XM_011518341.1:c.2386G>C	XP_011516643.1:p.Val796Leu
XM_011518342.1:c.1948G>C	XP_011516644.1:p.Val650Leu
XM_011518343.1:c.2386G>C	XP_011516645.1:p.Val796Leu
XM_011518344.1:c.2386G>C	XP_011516646.1:p.Val796Leu
XM_005251773.3:c.2311G>C	XP_005251830.1:p.Val771Leu
XM_005251776.3:c.2131G>C	XP_005251833.1:p.Val711Leu
XM_011518339.3:c.2386G>C	XP_011516641.1:p.Val796Leu
XM_011518340.3:c.2386G>C	XP_011516642.1:p.Val796Leu
XM_011518341.3:c.2386G>C	XP_011516643.1:p.Val796Leu
XM_011518342.3:c.1948G>C	XP_011516644.1:p.Val650Leu
XM_011518344.2:c.2386G>C	XP_011516646.1:p.Val796Leu
XM_017014378.2:c.2386G>C	XP_016869867.1:p.Val796Leu
XM_017014379.2:c.2386G>C	XP_016869868.1:p.Val796Leu
XM_017014380.2:c.2386G>C	XP_016869869.1:p.Val796Leu
XM_017014381.2:c.2386G>C	XP_016869870.1:p.Val796Leu
XM_017014382.2:c.2248G>C	XP_016869871.1:p.Val750Leu
XR_001746223.1:n.2699G>C
NM_005502.4:c.2311G>C MANE Select	NP_005493.2:p.Val771Leu