Canonical Allele Identifier: CA12966471
Gene: ABCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1229375
ClinVar RCV Id: RCV001609615
dbSNP Id: rs2249891

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104861961A>G , CM000671.2:g.104861961A>G GRCh38
NC_000009.11:g.107624242A>G , CM000671.1:g.107624242A>G GRCh37
NC_000009.10:g.106664063A>G NCBI36
NG_007981.1:g.71195T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.422-161T>C MANE Select ENSP00000363868.3:p.=
ENST00000678995.1:c.422-161T>C ENSP00000504612.1:p.=
ENST00000374733.1:c.242-161T>C ENSP00000363865.1:p.=
ENST00000374736.7:c.422-161T>C ENSP00000363868.3:p.=
ENST00000423487.6:c.422-161T>C ENSP00000416623.2:p.=
NM_005502.3:c.422-161T>C NP_005493.2:p.=
XM_005251773.1:c.422-161T>C XP_005251830.1:p.=
XM_005251776.1:c.242-161T>C XP_005251833.1:p.=
XM_011518339.1:c.497-161T>C XP_011516641.1:p.=
XM_011518340.1:c.497-161T>C XP_011516642.1:p.=
XM_011518341.1:c.497-161T>C XP_011516643.1:p.=
XM_011518342.1:c.59-161T>C XP_011516644.1:p.=
XM_011518343.1:c.497-161T>C XP_011516645.1:p.=
XM_011518344.1:c.497-161T>C XP_011516646.1:p.=
XM_005251773.3:c.422-161T>C XP_005251830.1:p.=
XM_005251776.3:c.242-161T>C XP_005251833.1:p.=
XM_011518339.3:c.497-161T>C XP_011516641.1:p.=
XM_011518340.3:c.497-161T>C XP_011516642.1:p.=
XM_011518341.3:c.497-161T>C XP_011516643.1:p.=
XM_011518342.3:c.59-161T>C XP_011516644.1:p.=
XM_011518344.2:c.497-161T>C XP_011516646.1:p.=
XM_017014378.2:c.497-161T>C XP_016869867.1:p.=
XM_017014379.2:c.497-161T>C XP_016869868.1:p.=
XM_017014380.2:c.497-161T>C XP_016869869.1:p.=
XM_017014381.2:c.497-161T>C XP_016869870.1:p.=
XM_017014382.2:c.359-161T>C XP_016869871.1:p.=
XR_001746223.1:n.810-161T>C
NM_005502.4:c.422-161T>C MANE Select NP_005493.2:p.=