Canonical Allele Identifier: CA197399697

Gene: ABCA1

Linked Data

• dbSNP Id: rs1040602461
• gnomAD v3: 9-104915019-T-C
• gnomAD v4: 9-104915019-T-C
• MyVariant Identifiers: chr9:g.107677300T>C (hg19) ; chr9:g.104915019T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104915019T>C , CM000671.2:g.104915019T>C	GRCh38
NC_000009.11:g.107677300T>C , CM000671.1:g.107677300T>C	GRCh37
NC_000009.10:g.106717121T>C	NCBI36
NG_007981.1:g.18137A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.-92-11248A>G MANE Select	ENSP00000363868.3:n.-92-11248A>G
ENST00000678995.1:c.-92-11248A>G	ENSP00000504612.1:n.-92-11248A>G
ENST00000374733.1:c.-115+12916A>G	ENSP00000363865.1:n.-115+12916A>G
ENST00000374736.7:c.-92-11248A>G	ENSP00000363868.3:n.-92-11248A>G
ENST00000423487.6:c.-92-11248A>G	ENSP00000416623.2:n.-92-11248A>G
NM_005502.3:c.-92-11248A>G	NP_005493.2:n.-92-11248A>G
XM_005251773.1:c.-92-11248A>G	XP_005251830.1:n.-92-11248A>G
XM_005251776.1:c.-115+12916A>G	XP_005251833.1:n.-115+12916A>G
XM_011518339.1:c.-92-11248A>G	XP_011516641.1:n.-92-11248A>G
XM_011518341.1:c.-92-11248A>G	XP_011516643.1:n.-92-11248A>G
XM_011518342.1:c.-156+12916A>G	XP_011516644.1:n.-156+12916A>G
XM_011518343.1:c.-92-11248A>G	XP_011516645.1:n.-92-11248A>G
XM_011518344.1:c.-92-11248A>G	XP_011516646.1:n.-92-11248A>G
XR_428585.2:n.999-3643T>C
XR_428586.2:n.999-3643T>C
XR_428587.2:n.20+2679T>C
XM_005251773.3:c.-92-11248A>G	XP_005251830.1:n.-92-11248A>G
XM_005251776.3:c.-115+12916A>G	XP_005251833.1:n.-115+12916A>G
XM_011518339.3:c.-92-11248A>G	XP_011516641.1:n.-92-11248A>G
XM_011518341.3:c.-92-11248A>G	XP_011516643.1:n.-92-11248A>G
XM_011518342.3:c.-156+12916A>G	XP_011516644.1:n.-156+12916A>G
XM_011518344.2:c.-92-11248A>G	XP_011516646.1:n.-92-11248A>G
XR_001746223.1:n.222-11248A>G
NM_005502.4:c.-92-11248A>G MANE Select	NP_005493.2:n.-92-11248A>G