Canonical Allele Identifier: CA5168206

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364404
• ClinVar RCV Id: RCV000350460 ; RCV000397059 ; RCV002328885 ; RCV003718227
• dbSNP Id: rs538614702
• ExAC: 9:107571826 T / A
• gnomAD v2: 9-107571826-T-A
• gnomAD v3: 9-104809545-T-A
• gnomAD v4: 9-104809545-T-A
• MyVariant Identifiers: chr9:g.107571826T>A (hg19) ; chr9:g.104809545T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104809545T>A , CM000671.2:g.104809545T>A	GRCh38
NC_000009.11:g.107571826T>A , CM000671.1:g.107571826T>A	GRCh37
NC_000009.10:g.106611647T>A	NCBI36
NG_007981.1:g.123611A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4195A>T MANE Select	ENSP00000363868.3:p.Thr1399Ser
ENST00000678995.1:c.4201A>T	ENSP00000504612.1:p.Thr1401Ser
ENST00000374736.7:c.4195A>T	ENSP00000363868.3:p.Thr1399Ser
NM_005502.3:c.4195A>T	NP_005493.2:p.Thr1399Ser
XM_005251773.1:c.4201A>T	XP_005251830.1:p.Thr1401Ser
XM_005251776.1:c.4021A>T	XP_005251833.1:p.Thr1341Ser
XM_011518339.1:c.4276A>T	XP_011516641.1:p.Thr1426Ser
XM_011518340.1:c.4276A>T	XP_011516642.1:p.Thr1426Ser
XM_011518341.1:c.4270A>T	XP_011516643.1:p.Thr1424Ser
XM_011518342.1:c.3838A>T	XP_011516644.1:p.Thr1280Ser
XM_011518343.1:c.4276A>T	XP_011516645.1:p.Thr1426Ser
XM_011518344.1:c.4276A>T	XP_011516646.1:p.Thr1426Ser
XM_005251773.3:c.4201A>T	XP_005251830.1:p.Thr1401Ser
XM_005251776.3:c.4021A>T	XP_005251833.1:p.Thr1341Ser
XM_011518339.3:c.4276A>T	XP_011516641.1:p.Thr1426Ser
XM_011518340.3:c.4276A>T	XP_011516642.1:p.Thr1426Ser
XM_011518341.3:c.4270A>T	XP_011516643.1:p.Thr1424Ser
XM_011518342.3:c.3838A>T	XP_011516644.1:p.Thr1280Ser
XM_011518344.2:c.4276A>T	XP_011516646.1:p.Thr1426Ser
XM_017014378.2:c.4276A>T	XP_016869867.1:p.Thr1426Ser
XM_017014379.2:c.4276A>T	XP_016869868.1:p.Thr1426Ser
XM_017014380.2:c.4276A>T	XP_016869869.1:p.Thr1426Ser
XM_017014381.2:c.4276A>T	XP_016869870.1:p.Thr1426Ser
XM_017014382.2:c.4138A>T	XP_016869871.1:p.Thr1380Ser
XR_001746223.1:n.4589A>T
NM_005502.4:c.4195A>T MANE Select	NP_005493.2:p.Thr1399Ser