Canonical Allele Identifier: CA5168838
Gene: ABCA1 HGNC NCBI
COSMIC:
COSM1178521 (not active)
MyVariant.info:
GRCh38 chr9:g.104828991G>T
GRCh37 chr9:g.107591272G>T
gnomAD v2:
9:107591272 G / T
gnomAD v3:
9:104828991 G / T
gnomAD v4:
chr9-104828991-G-T
Joint Max Group AF 0.6580662 (EAS)
Genomes Max Group AF 0.67001849 (EAS)
Exomes Max Group AF 0.65450108 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104828991G>T , CM000671.2:g.104828991G>T GRCh38
NC_000009.11:g.107591272G>T , CM000671.1:g.107591272G>T GRCh37
NC_000009.10:g.106631093G>T NCBI36
NG_007981.1:g.104165C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.2040C>A MANE Select ENSP00000363868.3:p.Ile680=
ENST00000678995.1:c.2040C>A ENSP00000504612.1:p.Ile680=
ENST00000374736.7:c.2040C>A ENSP00000363868.3:p.Ile680=
ENST00000494467.1:n.213C>A
NM_005502.3:c.2040C>A NP_005493.2:p.Ile680=
XM_005251773.1:c.2040C>A XP_005251830.1:p.Ile680=
XM_005251776.1:c.1860C>A XP_005251833.1:p.Ile620=
XM_011518339.1:c.2115C>A XP_011516641.1:p.Ile705=
XM_011518340.1:c.2115C>A XP_011516642.1:p.Ile705=
XM_011518341.1:c.2115C>A XP_011516643.1:p.Ile705=
XM_011518342.1:c.1677C>A XP_011516644.1:p.Ile559=
XM_011518343.1:c.2115C>A XP_011516645.1:p.Ile705=
XM_011518344.1:c.2115C>A XP_011516646.1:p.Ile705=
XM_005251773.3:c.2040C>A XP_005251830.1:p.Ile680=
XM_005251776.3:c.1860C>A XP_005251833.1:p.Ile620=
XM_011518339.3:c.2115C>A XP_011516641.1:p.Ile705=
XM_011518340.3:c.2115C>A XP_011516642.1:p.Ile705=
XM_011518341.3:c.2115C>A XP_011516643.1:p.Ile705=
XM_011518342.3:c.1677C>A XP_011516644.1:p.Ile559=
XM_011518344.2:c.2115C>A XP_011516646.1:p.Ile705=
XM_017014378.2:c.2115C>A XP_016869867.1:p.Ile705=
XM_017014379.2:c.2115C>A XP_016869868.1:p.Ile705=
XM_017014380.2:c.2115C>A XP_016869869.1:p.Ile705=
XM_017014381.2:c.2115C>A XP_016869870.1:p.Ile705=
XM_017014382.2:c.1977C>A XP_016869871.1:p.Ile659=
XR_001746223.1:n.2428C>A
NM_005502.4:c.2040C>A MANE Select NP_005493.2:p.Ile680=
Search 100 bp 5'
Search 100 bp 3'