Canonical Allele Identifier: CA26863882
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1970872
ClinVar RCV Id: RCV002735605
dbSNP Id: rs370047782
gnomAD v3: 1-94041416-G-A
gnomAD v4: 1-94041416-G-A
MyVariant Identifiers: chr1:g.94506972G>A (hg19) chr1:g.94041416G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041416G>A , CM000663.2:g.94041416G>A GRCh38
NC_000001.10:g.94506972G>A , CM000663.1:g.94506972G>A GRCh37
NC_000001.9:g.94279560G>A NCBI36
NG_009073.1:g.84734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-14C>T MANE Select ENSP00000359245.3:n.3329-14C>T
ENST00000370225.3:c.3329-14C>T ENSP00000359245.3:n.3329-14C>T
ENST00000536513.5:c.-64-1327C>T ENSP00000439707.2:n.-64-1327C>T
NM_000350.2:c.3329-14C>T NP_000341.2:n.3329-14C>T
NM_000350.3:c.3329-14C>T MANE Select NP_000341.2:n.3329-14C>T
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