Canonical Allele Identifier: CA1181426410
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1456269900
gnomAD v4: 1-94056526-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056526G>C , CM000663.2:g.94056526G>C GRCh38
NC_000001.10:g.94522082G>C , CM000663.1:g.94522082G>C GRCh37
NC_000001.9:g.94294670G>C NCBI36
NG_009073.1:g.69624C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+75C>G MANE Select ENSP00000359245.3:n.2382+75C>G
ENST00000649773.1:c.2161-1211C>G ENSP00000496882.1:n.2161-1211C>G
ENST00000370225.3:c.2382+75C>G ENSP00000359245.3:n.2382+75C>G
ENST00000536513.5:c.-65+6648C>G ENSP00000439707.2:n.-65+6648C>G
NM_000350.2:c.2382+75C>G NP_000341.2:n.2382+75C>G
NM_000350.3:c.2382+75C>G MANE Select NP_000341.2:n.2382+75C>G
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