Canonical Allele Identifier: CA197394932

Gene: ABCA1

Linked Data

• dbSNP Id: rs995223032
• gnomAD v2: 9-107664215-T-G
• gnomAD v3: 9-104901934-T-G
• gnomAD v4: 9-104901934-T-G
• MyVariant Identifiers: chr9:g.107664215T>G (hg19) ; chr9:g.104901934T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104901934T>G , CM000671.2:g.104901934T>G	GRCh38
NC_000009.11:g.107664215T>G , CM000671.1:g.107664215T>G	GRCh37
NC_000009.10:g.106704036T>G	NCBI36
NG_007981.1:g.31222A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.66+1680A>C MANE Select	ENSP00000363868.3:n.66+1680A>C
ENST00000678995.1:c.66+1680A>C	ENSP00000504612.1:n.66+1680A>C
ENST00000374733.1:c.-114-12739A>C	ENSP00000363865.1:n.-114-12739A>C
ENST00000374736.7:c.66+1680A>C	ENSP00000363868.3:n.66+1680A>C
ENST00000423487.6:c.66+1680A>C	ENSP00000416623.2:n.66+1680A>C
NM_005502.3:c.66+1680A>C	NP_005493.2:n.66+1680A>C
XM_005251773.1:c.66+1680A>C	XP_005251830.1:n.66+1680A>C
XM_005251776.1:c.-114-12739A>C	XP_005251833.1:n.-114-12739A>C
XM_011518339.1:c.141+1116A>C	XP_011516641.1:n.141+1116A>C
XM_011518340.1:c.141+1116A>C	XP_011516642.1:n.141+1116A>C
XM_011518341.1:c.141+1116A>C	XP_011516643.1:n.141+1116A>C
XM_011518342.1:c.-155-12739A>C	XP_011516644.1:n.-155-12739A>C
XM_011518343.1:c.141+1116A>C	XP_011516645.1:n.141+1116A>C
XM_011518344.1:c.141+1116A>C	XP_011516646.1:n.141+1116A>C
XM_005251773.3:c.66+1680A>C	XP_005251830.1:n.66+1680A>C
XM_005251776.3:c.-114-12739A>C	XP_005251833.1:n.-114-12739A>C
XM_011518339.3:c.141+1116A>C	XP_011516641.1:n.141+1116A>C
XM_011518340.3:c.141+1116A>C	XP_011516642.1:n.141+1116A>C
XM_011518341.3:c.141+1116A>C	XP_011516643.1:n.141+1116A>C
XM_011518342.3:c.-155-12739A>C	XP_011516644.1:n.-155-12739A>C
XM_011518344.2:c.141+1116A>C	XP_011516646.1:n.141+1116A>C
XM_017014378.2:c.141+1116A>C	XP_016869867.1:n.141+1116A>C
XM_017014379.2:c.141+1116A>C	XP_016869868.1:n.141+1116A>C
XM_017014380.2:c.141+1116A>C	XP_016869869.1:n.141+1116A>C
XM_017014381.2:c.141+1116A>C	XP_016869870.1:n.141+1116A>C
XR_001746223.1:n.454+1116A>C
NM_005502.4:c.66+1680A>C MANE Select	NP_005493.2:n.66+1680A>C