Canonical Allele Identifier: CA418824702
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94029565-C-T
MyVariant Identifiers: chr1:g.94495121C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029565C>T , CM000663.2:g.94029565C>T GRCh38
NC_000001.10:g.94495121C>T , CM000663.1:g.94495121C>T GRCh37
NC_000001.9:g.94267709C>T NCBI36
NG_009073.1:g.96585G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4419G>A MANE Select ENSP00000359245.3:p.Leu1473=
ENST00000370225.3:c.4419G>A ENSP00000359245.3:p.Leu1473=
ENST00000536513.5:c.795G>A ENSP00000439707.2:p.Leu265=
NM_000350.2:c.4419G>A NP_000341.2:p.Leu1473=
NM_000350.3:c.4419G>A MANE Select NP_000341.2:p.Leu1473=
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