Canonical Allele Identifier: CA1181419894
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660471981
gnomAD v4: 1-94041076-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041076G>T , CM000663.2:g.94041076G>T GRCh38
NC_000001.10:g.94506632G>T , CM000663.1:g.94506632G>T GRCh37
NC_000001.9:g.94279220G>T NCBI36
NG_009073.1:g.85074C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+133C>A MANE Select ENSP00000359245.3:n.3522+133C>A
ENST00000370225.3:c.3522+133C>A ENSP00000359245.3:n.3522+133C>A
ENST00000536513.5:c.-64-987C>A ENSP00000439707.2:n.-64-987C>A
NM_000350.2:c.3522+133C>A NP_000341.2:n.3522+133C>A
NM_000350.3:c.3522+133C>A MANE Select NP_000341.2:n.3522+133C>A
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