Canonical Allele Identifier: CA524383306
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2791513
ClinVar RCV Id: RCV003672532
dbSNP Id: rs1309824946
gnomAD v2: 1-94476954-A-G
MyVariant Identifiers: chr1:g.94476954A>G (hg19) chr1:g.94011398A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011398A>G , CM000663.2:g.94011398A>G GRCh38
NC_000001.10:g.94476954A>G , CM000663.1:g.94476954A>G GRCh37
NC_000001.9:g.94249542A>G NCBI36
NG_009073.1:g.114752T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5461-13T>C MANE Select ENSP00000359245.3:n.5461-13T>C
ENST00000370225.3:c.5461-13T>C ENSP00000359245.3:n.5461-13T>C
ENST00000536513.5:c.1837-13T>C ENSP00000439707.2:n.1837-13T>C
NM_000350.2:c.5461-13T>C NP_000341.2:n.5461-13T>C
NM_000350.3:c.5461-13T>C MANE Select NP_000341.2:n.5461-13T>C
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