Canonical Allele Identifier: CA341280688
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1456725
ClinVar RCV Id: RCV001946958
dbSNP Id: rs1232476760
gnomAD v2: 1-94476355-C-T
MyVariant Identifiers: chr1:g.94476355C>T (hg19) chr1:g.94010799C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010799C>T , CM000663.2:g.94010799C>T GRCh38
NC_000001.10:g.94476355C>T , CM000663.1:g.94476355C>T GRCh37
NC_000001.9:g.94248943C>T NCBI36
NG_009073.1:g.115351G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5714+1G>A MANE Select ENSP00000359245.3:n.5714+1G>A
ENST00000370225.3:c.5714+1G>A ENSP00000359245.3:n.5714+1G>A
ENST00000465352.1:n.130+1G>A
ENST00000536513.5:c.2090+1G>A ENSP00000439707.2:n.2090+1G>A
NM_000350.2:c.5714+1G>A NP_000341.2:n.5714+1G>A
NM_000350.3:c.5714+1G>A MANE Select NP_000341.2:n.5714+1G>A
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