Canonical Allele Identifier: CA227219
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99304
ClinVar RCV Id: RCV000085657 RCV000177510 RCV001002826 RCV001074286 RCV001535669 RCV004529890 RCV003235039
dbSNP Id: rs62642574
ExAC: 1:94490550 C / T
gnomAD v2: 1-94490550-C-T
gnomAD v3: 1-94024994-C-T
gnomAD v4: 1-94024994-C-T
MyVariant Identifiers: chr1:g.94490550C>T (hg19) chr1:g.94024994C>T (hg38)
PubMed: PMID:9973280 PMID:19217903 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94024994C>T , CM000663.2:g.94024994C>T GRCh38
NC_000001.10:g.94490550C>T , CM000663.1:g.94490550C>T GRCh37
NC_000001.9:g.94263138C>T NCBI36
NG_009073.1:g.101156G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4594G>A MANE Select ENSP00000359245.3:p.Asp1532Asn
ENST00000370225.3:c.4594G>A ENSP00000359245.3:p.Asp1532Asn
ENST00000460514.1:n.88G>A
ENST00000536513.5:c.970G>A ENSP00000439707.2:p.Asp324Asn
NM_000350.2:c.4594G>A NP_000341.2:p.Asp1532Asn
NM_000350.3:c.4594G>A MANE Select NP_000341.2:p.Asp1532Asn
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