Canonical Allele Identifier: CA2691057796

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104928080-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104928080C>T , CM000671.2:g.104928080C>T	GRCh38
NC_000009.11:g.107690361C>T , CM000671.1:g.107690361C>T	GRCh37
NC_000009.10:g.106730182C>T	NCBI36
NG_007981.1:g.5076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.-238G>A MANE Select	ENSP00000363868.3:n.-238G>A
ENST00000678995.1:c.-238G>A	ENSP00000504612.1:n.-238G>A
ENST00000374733.1:c.-260G>A	ENSP00000363865.1:n.-260G>A
ENST00000374736.7:c.-238G>A	ENSP00000363868.3:n.-238G>A
ENST00000423487.6:c.-238G>A	ENSP00000416623.2:n.-238G>A
NM_005502.3:c.-238G>A	NP_005493.2:n.-238G>A
XM_005251773.1:c.-238G>A	XP_005251830.1:n.-238G>A
XM_005251776.1:c.-260G>A	XP_005251833.1:n.-260G>A
XM_011518339.1:c.-238G>A	XP_011516641.1:n.-238G>A
XM_011518341.1:c.-238G>A	XP_011516643.1:n.-238G>A
XM_011518342.1:c.-301G>A	XP_011516644.1:n.-301G>A
XM_011518343.1:c.-238G>A	XP_011516645.1:n.-238G>A
XM_011518344.1:c.-238G>A	XP_011516646.1:n.-238G>A
XR_930204.1:n.734+170C>T
XM_005251773.3:c.-238G>A	XP_005251830.1:n.-238G>A
XM_005251776.3:c.-260G>A	XP_005251833.1:n.-260G>A
XM_011518339.3:c.-238G>A	XP_011516641.1:n.-238G>A
XM_011518341.3:c.-238G>A	XP_011516643.1:n.-238G>A
XM_011518342.3:c.-301G>A	XP_011516644.1:n.-301G>A
XM_011518344.2:c.-238G>A	XP_011516646.1:n.-238G>A
XR_001746223.1:n.76G>A
XR_930204.2:n.115+170C>T
NM_005502.4:c.-238G>A MANE Select	NP_005493.2:n.-238G>A