Canonical Allele Identifier: CA1869929742

Gene: ABCA1

Linked Data

• dbSNP Id: rs1830071204
• gnomAD v3: 9-104798362-C-G
• gnomAD v4: 9-104798362-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798362C>G , CM000671.2:g.104798362C>G	GRCh38
NC_000009.11:g.107560643C>G , CM000671.1:g.107560643C>G	GRCh37
NC_000009.10:g.106600464C>G	NCBI36
NG_007981.1:g.134794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.5121+59G>C MANE Select	ENSP00000363868.3:n.5121+59G>C
ENST00000678995.1:c.5127+59G>C	ENSP00000504612.1:n.5127+59G>C
ENST00000374736.7:c.5121+59G>C	ENSP00000363868.3:n.5121+59G>C
NM_005502.3:c.5121+59G>C	NP_005493.2:n.5121+59G>C
XM_005251773.1:c.5127+59G>C	XP_005251830.1:n.5127+59G>C
XM_005251776.1:c.4947+59G>C	XP_005251833.1:n.4947+59G>C
XM_011518339.1:c.5202+59G>C	XP_011516641.1:n.5202+59G>C
XM_011518340.1:c.5202+59G>C	XP_011516642.1:n.5202+59G>C
XM_011518341.1:c.5196+59G>C	XP_011516643.1:n.5196+59G>C
XM_011518342.1:c.4764+59G>C	XP_011516644.1:n.4764+59G>C
XM_011518343.1:c.5202+59G>C	XP_011516645.1:n.5202+59G>C
XM_005251773.3:c.5127+59G>C	XP_005251830.1:n.5127+59G>C
XM_005251776.3:c.4947+59G>C	XP_005251833.1:n.4947+59G>C
XM_011518339.3:c.5202+59G>C	XP_011516641.1:n.5202+59G>C
XM_011518340.3:c.5202+59G>C	XP_011516642.1:n.5202+59G>C
XM_011518341.3:c.5196+59G>C	XP_011516643.1:n.5196+59G>C
XM_011518342.3:c.4764+59G>C	XP_011516644.1:n.4764+59G>C
XM_017014378.2:c.5202+59G>C	XP_016869867.1:n.5202+59G>C
XM_017014379.2:c.5202+59G>C	XP_016869868.1:n.5202+59G>C
XM_017014380.2:c.5202+59G>C	XP_016869869.1:n.5202+59G>C
XM_017014381.2:c.5202+59G>C	XP_016869870.1:n.5202+59G>C
XM_017014382.2:c.5064+59G>C	XP_016869871.1:n.5064+59G>C
XR_001746223.1:n.5515+59G>C
NM_005502.4:c.5121+59G>C MANE Select	NP_005493.2:n.5121+59G>C