Canonical Allele Identifier: CA858083857

Gene: ABCA1

Linked Data

• dbSNP Id: rs1246435296
• gnomAD v3: 9-104928087-G-A
• gnomAD v4: 9-104928087-G-A
• MyVariant Identifiers: chr9:g.107690368G>A (hg19) ; chr9:g.104928087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104928087G>A , CM000671.2:g.104928087G>A	GRCh38
NC_000009.11:g.107690368G>A , CM000671.1:g.107690368G>A	GRCh37
NC_000009.10:g.106730189G>A	NCBI36
NG_007981.1:g.5069C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.-245C>T MANE Select	ENSP00000363868.3:n.-245C>T
ENST00000678995.1:c.-245C>T	ENSP00000504612.1:n.-245C>T
ENST00000374733.1:c.-267C>T	ENSP00000363865.1:n.-267C>T
ENST00000374736.7:c.-245C>T	ENSP00000363868.3:n.-245C>T
ENST00000423487.6:c.-245C>T	ENSP00000416623.2:n.-245C>T
NM_005502.3:c.-245C>T	NP_005493.2:n.-245C>T
XM_005251773.1:c.-245C>T	XP_005251830.1:n.-245C>T
XM_005251776.1:c.-267C>T	XP_005251833.1:n.-267C>T
XM_011518339.1:c.-245C>T	XP_011516641.1:n.-245C>T
XM_011518341.1:c.-245C>T	XP_011516643.1:n.-245C>T
XM_011518342.1:c.-308C>T	XP_011516644.1:n.-308C>T
XM_011518343.1:c.-245C>T	XP_011516645.1:n.-245C>T
XM_011518344.1:c.-245C>T	XP_011516646.1:n.-245C>T
XR_930204.1:n.734+177G>A
XM_005251773.3:c.-245C>T	XP_005251830.1:n.-245C>T
XM_005251776.3:c.-267C>T	XP_005251833.1:n.-267C>T
XM_011518339.3:c.-245C>T	XP_011516641.1:n.-245C>T
XM_011518341.3:c.-245C>T	XP_011516643.1:n.-245C>T
XM_011518342.3:c.-308C>T	XP_011516644.1:n.-308C>T
XM_011518344.2:c.-245C>T	XP_011516646.1:n.-245C>T
XR_001746223.1:n.69C>T
XR_930204.2:n.115+177G>A
NM_005502.4:c.-245C>T MANE Select	NP_005493.2:n.-245C>T