Canonical Allele Identifier: CA2691051832

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104806201-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806201T>C , CM000671.2:g.104806201T>C	GRCh38
NC_000009.11:g.107568482T>C , CM000671.1:g.107568482T>C	GRCh37
NC_000009.10:g.106608303T>C	NCBI36
NG_007981.1:g.126955A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.4464+40A>G MANE Select	ENSP00000363868.3:n.4464+40A>G
ENST00000678995.1:c.4470+40A>G	ENSP00000504612.1:n.4470+40A>G
ENST00000374736.7:c.4464+40A>G	ENSP00000363868.3:n.4464+40A>G
NM_005502.3:c.4464+40A>G	NP_005493.2:n.4464+40A>G
XM_005251773.1:c.4470+40A>G	XP_005251830.1:n.4470+40A>G
XM_005251776.1:c.4290+40A>G	XP_005251833.1:n.4290+40A>G
XM_011518339.1:c.4545+40A>G	XP_011516641.1:n.4545+40A>G
XM_011518340.1:c.4545+40A>G	XP_011516642.1:n.4545+40A>G
XM_011518341.1:c.4539+40A>G	XP_011516643.1:n.4539+40A>G
XM_011518342.1:c.4107+40A>G	XP_011516644.1:n.4107+40A>G
XM_011518343.1:c.4545+40A>G	XP_011516645.1:n.4545+40A>G
XM_011518344.1:c.4545+40A>G	XP_011516646.1:n.4545+40A>G
XM_005251773.3:c.4470+40A>G	XP_005251830.1:n.4470+40A>G
XM_005251776.3:c.4290+40A>G	XP_005251833.1:n.4290+40A>G
XM_011518339.3:c.4545+40A>G	XP_011516641.1:n.4545+40A>G
XM_011518340.3:c.4545+40A>G	XP_011516642.1:n.4545+40A>G
XM_011518341.3:c.4539+40A>G	XP_011516643.1:n.4539+40A>G
XM_011518342.3:c.4107+40A>G	XP_011516644.1:n.4107+40A>G
XM_011518344.2:c.4545+40A>G	XP_011516646.1:n.4545+40A>G
XM_017014378.2:c.4545+40A>G	XP_016869867.1:n.4545+40A>G
XM_017014379.2:c.4545+40A>G	XP_016869868.1:n.4545+40A>G
XM_017014380.2:c.4545+40A>G	XP_016869869.1:n.4545+40A>G
XM_017014381.2:c.4545+40A>G	XP_016869870.1:n.4545+40A>G
XM_017014382.2:c.4407+40A>G	XP_016869871.1:n.4407+40A>G
XR_001746223.1:n.4858+40A>G
NM_005502.4:c.4464+40A>G MANE Select	NP_005493.2:n.4464+40A>G