Canonical Allele Identifier: CA1181428131
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1661103680
gnomAD v4: 1-94060849-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060849A>T , CM000663.2:g.94060849A>T GRCh38
NC_000001.10:g.94526405A>T , CM000663.1:g.94526405A>T GRCh37
NC_000001.9:g.94298993A>T NCBI36
NG_009073.1:g.65301T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-90T>A MANE Select ENSP00000359245.3:n.1938-90T>A
ENST00000649773.1:c.1938-90T>A ENSP00000496882.1:n.1938-90T>A
ENST00000370225.3:c.1938-90T>A ENSP00000359245.3:n.1938-90T>A
ENST00000472033.1:n.58-90T>A
ENST00000536513.5:c.-65+2325T>A ENSP00000439707.2:n.-65+2325T>A
NM_000350.2:c.1938-90T>A NP_000341.2:n.1938-90T>A
NM_000350.3:c.1938-90T>A MANE Select NP_000341.2:n.1938-90T>A
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