Canonical Allele Identifier: CA858083877
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1375284347
gnomAD v3: 9-104928166-C-T
gnomAD v4: 9-104928166-C-T
MyVariant Identifiers: chr9:g.107690447C>T (hg19) chr9:g.104928166C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104928166C>T , CM000671.2:g.104928166C>T GRCh38
NC_000009.11:g.107690447C>T , CM000671.1:g.107690447C>T GRCh37
NC_000009.10:g.106730268C>T NCBI36
NG_007981.1:g.4990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.7:c.-324G>A ENSP00000363868.3:n.-324G>A
NM_005502.3:c.-324G>A NP_005493.2:n.-324G>A
XM_011518342.1:c.-387G>A XP_011516644.1:n.-387G>A
XR_930204.1:n.734+256C>T
XM_011518342.3:c.-387G>A XP_011516644.1:n.-387G>A
XR_930204.2:n.115+256C>T
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