Canonical Allele Identifier: CA197366155

Gene: ABCA1

Linked Data

• dbSNP Id: rs976359311
• gnomAD v2: 9-107624278-T-C
• gnomAD v3: 9-104861997-T-C
• gnomAD v4: 9-104861997-T-C
• MyVariant Identifiers: chr9:g.107624278T>C (hg19) ; chr9:g.104861997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104861997T>C , CM000671.2:g.104861997T>C	GRCh38
NC_000009.11:g.107624278T>C , CM000671.1:g.107624278T>C	GRCh37
NC_000009.10:g.106664099T>C	NCBI36
NG_007981.1:g.71159A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.422-197A>G MANE Select	ENSP00000363868.3:n.422-197A>G
ENST00000678995.1:c.422-197A>G	ENSP00000504612.1:n.422-197A>G
ENST00000374733.1:c.242-197A>G	ENSP00000363865.1:n.242-197A>G
ENST00000374736.7:c.422-197A>G	ENSP00000363868.3:n.422-197A>G
ENST00000423487.6:c.422-197A>G	ENSP00000416623.2:n.422-197A>G
NM_005502.3:c.422-197A>G	NP_005493.2:n.422-197A>G
XM_005251773.1:c.422-197A>G	XP_005251830.1:n.422-197A>G
XM_005251776.1:c.242-197A>G	XP_005251833.1:n.242-197A>G
XM_011518339.1:c.497-197A>G	XP_011516641.1:n.497-197A>G
XM_011518340.1:c.497-197A>G	XP_011516642.1:n.497-197A>G
XM_011518341.1:c.497-197A>G	XP_011516643.1:n.497-197A>G
XM_011518342.1:c.59-197A>G	XP_011516644.1:n.59-197A>G
XM_011518343.1:c.497-197A>G	XP_011516645.1:n.497-197A>G
XM_011518344.1:c.497-197A>G	XP_011516646.1:n.497-197A>G
XM_005251773.3:c.422-197A>G	XP_005251830.1:n.422-197A>G
XM_005251776.3:c.242-197A>G	XP_005251833.1:n.242-197A>G
XM_011518339.3:c.497-197A>G	XP_011516641.1:n.497-197A>G
XM_011518340.3:c.497-197A>G	XP_011516642.1:n.497-197A>G
XM_011518341.3:c.497-197A>G	XP_011516643.1:n.497-197A>G
XM_011518342.3:c.59-197A>G	XP_011516644.1:n.59-197A>G
XM_011518344.2:c.497-197A>G	XP_011516646.1:n.497-197A>G
XM_017014378.2:c.497-197A>G	XP_016869867.1:n.497-197A>G
XM_017014379.2:c.497-197A>G	XP_016869868.1:n.497-197A>G
XM_017014380.2:c.497-197A>G	XP_016869869.1:n.497-197A>G
XM_017014381.2:c.497-197A>G	XP_016869870.1:n.497-197A>G
XM_017014382.2:c.359-197A>G	XP_016869871.1:n.359-197A>G
XR_001746223.1:n.810-197A>G
NM_005502.4:c.422-197A>G MANE Select	NP_005493.2:n.422-197A>G