Canonical Allele Identifier: CA2573132686
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1619367
ClinVar RCV Id: RCV002086674
dbSNP Id: rs2101004067
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008225G>T , CM000663.2:g.94008225G>T GRCh38
NC_000001.10:g.94473781G>T , CM000663.1:g.94473781G>T GRCh37
NC_000001.9:g.94246369G>T NCBI36
NG_009073.1:g.117925C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5898+10C>A MANE Select ENSP00000359245.3:n.5898+10C>A
ENST00000370225.3:c.5898+10C>A ENSP00000359245.3:n.5898+10C>A
ENST00000465352.1:n.314+10C>A
ENST00000536513.5:c.2274+10C>A ENSP00000439707.2:n.2274+10C>A
NM_000350.2:c.5898+10C>A NP_000341.2:n.5898+10C>A
NM_000350.3:c.5898+10C>A MANE Select NP_000341.2:n.5898+10C>A
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