Canonical Allele Identifier: CA197410813

Gene: ABCA1

Linked Data

• dbSNP Id: rs539621172
• gnomAD v3: 9-104928160-T-C
• gnomAD v4: 9-104928160-T-C
• MyVariant Identifiers: chr9:g.107690441T>C (hg19) ; chr9:g.104928160T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104928160T>C , CM000671.2:g.104928160T>C	GRCh38
NC_000009.11:g.107690441T>C , CM000671.1:g.107690441T>C	GRCh37
NC_000009.10:g.106730262T>C	NCBI36
NG_007981.1:g.4996A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.7:c.-318A>G	ENSP00000363868.3:n.-318A>G
NM_005502.3:c.-318A>G	NP_005493.2:n.-318A>G
XM_011518342.1:c.-381A>G	XP_011516644.1:n.-381A>G
XR_930204.1:n.734+250T>C
XM_011518342.3:c.-381A>G	XP_011516644.1:n.-381A>G
XR_930204.2:n.115+250T>C