Canonical Allele Identifier: CA227355
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99419
ClinVar RCV Id: RCV000085776 RCV000408561 RCV000504777 RCV000678514 RCV001002810 RCV001257850 RCV001542556 RCV001807040 RCV003985075
dbSNP Id: rs61751389
ExAC: 1:94473277 AC / A
gnomAD v2: 1-94473277-AC-A
gnomAD v3: 1-94007721-AC-A
gnomAD v4: 1-94007721-AC-A
MyVariant Identifiers: chr1:g.94473278del (hg19) chr1:g.94007722del (hg38)
PubMed: PMID:10958763 PMID:23755871 PMID:28041643 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007722del , CM000663.2:g.94007722del GRCh38
NC_000001.10:g.94473278del , CM000663.1:g.94473278del GRCh37
NC_000001.9:g.94245866del NCBI36
NG_009073.1:g.118428del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5917del MANE Select ENSP00000359245.3:p.Val1973Ter
ENST00000370225.3:c.5917del ENSP00000359245.3:p.Val1973Ter
ENST00000465352.1:n.333del
ENST00000484388.1:n.31del
ENST00000536513.5:c.2293del ENSP00000439707.2:p.Val765Ter
NM_000350.2:c.5917del NP_000341.2:p.Val1973Ter
NM_000350.3:c.5917del MANE Select NP_000341.2:p.Val1973Ter
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