Canonical Allele Identifier: CA374314135

Gene: ABCA1

Linked Data

• dbSNP Id: rs2118884748
• gnomAD v3: 9-104798525-C-A
• gnomAD v4: 9-104798525-C-A
• MyVariant Identifiers: chr9:g.107560806C>A (hg19) ; chr9:g.104798525C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798525C>A , CM000671.2:g.104798525C>A	GRCh38
NC_000009.11:g.107560806C>A , CM000671.1:g.107560806C>A	GRCh37
NC_000009.10:g.106600627C>A	NCBI36
NG_007981.1:g.134631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.5017G>T MANE Select	ENSP00000363868.3:p.Val1673Phe
ENST00000678995.1:c.5023G>T	ENSP00000504612.1:p.Val1675Phe
ENST00000374736.7:c.5017G>T	ENSP00000363868.3:p.Val1673Phe
NM_005502.3:c.5017G>T	NP_005493.2:p.Val1673Phe
XM_005251773.1:c.5023G>T	XP_005251830.1:p.Val1675Phe
XM_005251776.1:c.4843G>T	XP_005251833.1:p.Val1615Phe
XM_011518339.1:c.5098G>T	XP_011516641.1:p.Val1700Phe
XM_011518340.1:c.5098G>T	XP_011516642.1:p.Val1700Phe
XM_011518341.1:c.5092G>T	XP_011516643.1:p.Val1698Phe
XM_011518342.1:c.4660G>T	XP_011516644.1:p.Val1554Phe
XM_011518343.1:c.5098G>T	XP_011516645.1:p.Val1700Phe
XM_005251773.3:c.5023G>T	XP_005251830.1:p.Val1675Phe
XM_005251776.3:c.4843G>T	XP_005251833.1:p.Val1615Phe
XM_011518339.3:c.5098G>T	XP_011516641.1:p.Val1700Phe
XM_011518340.3:c.5098G>T	XP_011516642.1:p.Val1700Phe
XM_011518341.3:c.5092G>T	XP_011516643.1:p.Val1698Phe
XM_011518342.3:c.4660G>T	XP_011516644.1:p.Val1554Phe
XM_017014378.2:c.5098G>T	XP_016869867.1:p.Val1700Phe
XM_017014379.2:c.5098G>T	XP_016869868.1:p.Val1700Phe
XM_017014380.2:c.5098G>T	XP_016869869.1:p.Val1700Phe
XM_017014381.2:c.5098G>T	XP_016869870.1:p.Val1700Phe
XM_017014382.2:c.4960G>T	XP_016869871.1:p.Val1654Phe
XR_001746223.1:n.5411G>T
NM_005502.4:c.5017G>T MANE Select	NP_005493.2:p.Val1673Phe