Canonical Allele Identifier: CA2691057852

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104928175-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104928175G>A , CM000671.2:g.104928175G>A	GRCh38
NC_000009.11:g.107690456G>A , CM000671.1:g.107690456G>A	GRCh37
NC_000009.10:g.106730277G>A	NCBI36
NG_007981.1:g.4981C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.7:c.-333C>T	ENSP00000363868.3:n.-333C>T
NM_005502.3:c.-333C>T	NP_005493.2:n.-333C>T
XM_011518342.1:c.-396C>T	XP_011516644.1:n.-396C>T
XR_930204.1:n.734+265G>A
XM_011518342.3:c.-396C>T	XP_011516644.1:n.-396C>T
XR_930204.2:n.115+265G>A