Canonical Allele Identifier: CA1181419985
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1363618853
gnomAD v4: 1-94041153-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041153C>G , CM000663.2:g.94041153C>G GRCh38
NC_000001.10:g.94506709C>G , CM000663.1:g.94506709C>G GRCh37
NC_000001.9:g.94279297C>G NCBI36
NG_009073.1:g.84997G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+56G>C MANE Select ENSP00000359245.3:n.3522+56G>C
ENST00000370225.3:c.3522+56G>C ENSP00000359245.3:n.3522+56G>C
ENST00000536513.5:c.-64-1064G>C ENSP00000439707.2:n.-64-1064G>C
NM_000350.2:c.3522+56G>C NP_000341.2:n.3522+56G>C
NM_000350.3:c.3522+56G>C MANE Select NP_000341.2:n.3522+56G>C
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