Canonical Allele Identifier: CA956986
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1071049
ClinVar RCV Id: RCV001383401
dbSNP Id: rs367839100
ExAC: 1:94467475 C / T
gnomAD v2: 1-94467475-C-T
gnomAD v3: 1-94001919-C-T
gnomAD v4: 1-94001919-C-T
MyVariant Identifiers: chr1:g.94467475C>T (hg19) chr1:g.94001919C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001919C>T , CM000663.2:g.94001919C>T GRCh38
NC_000001.10:g.94467475C>T , CM000663.1:g.94467475C>T GRCh37
NC_000001.9:g.94240063C>T NCBI36
NG_009073.1:g.124231G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6221G>A MANE Select ENSP00000359245.3:p.Gly2074Asp
ENST00000370225.3:c.6221G>A ENSP00000359245.3:p.Gly2074Asp
ENST00000465352.1:n.637G>A
ENST00000536513.5:c.2597G>A ENSP00000439707.2:p.Gly866Asp
NM_000350.2:c.6221G>A NP_000341.2:p.Gly2074Asp
NM_000350.3:c.6221G>A MANE Select NP_000341.2:p.Gly2074Asp
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