Canonical Allele Identifier: CA2499214890
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1264013
ClinVar RCV Id: RCV001675007
dbSNP Id: rs763137165
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041199A>C , CM000663.2:g.94041199A>C GRCh38
NC_000001.10:g.94506755A>C , CM000663.1:g.94506755A>C GRCh37
NC_000001.9:g.94279343A>C NCBI36
NG_009073.1:g.84951T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+10T>G MANE Select ENSP00000359245.3:n.3522+10T>G
ENST00000370225.3:c.3522+10T>G ENSP00000359245.3:n.3522+10T>G
ENST00000536513.5:c.-64-1110T>G ENSP00000439707.2:n.-64-1110T>G
NM_000350.2:c.3522+10T>G NP_000341.2:n.3522+10T>G
NM_000350.3:c.3522+10T>G MANE Select NP_000341.2:n.3522+10T>G
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