Canonical Allele Identifier: CA1181407306
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2858410
ClinVar RCV Id: RCV003699351
dbSNP Id: rs758707705
gnomAD v4: 1-94010790-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010790A>C , CM000663.2:g.94010790A>C GRCh38
NC_000001.10:g.94476346A>C , CM000663.1:g.94476346A>C GRCh37
NC_000001.9:g.94248934A>C NCBI36
NG_009073.1:g.115360T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+10T>G MANE Select ENSP00000359245.3:n.5714+10T>G
ENST00000370225.3:c.5714+10T>G ENSP00000359245.3:n.5714+10T>G
ENST00000465352.1:n.130+10T>G
ENST00000536513.5:c.2090+10T>G ENSP00000439707.2:n.2090+10T>G
NM_000350.2:c.5714+10T>G NP_000341.2:n.5714+10T>G
NM_000350.3:c.5714+10T>G MANE Select NP_000341.2:n.5714+10T>G
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