Canonical Allele Identifier: CA341278224
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94467461G>T (hg19) chr1:g.94001905G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001905G>T , CM000663.2:g.94001905G>T GRCh38
NC_000001.10:g.94467461G>T , CM000663.1:g.94467461G>T GRCh37
NC_000001.9:g.94240049G>T NCBI36
NG_009073.1:g.124245C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6235C>A MANE Select ENSP00000359245.3:p.Leu2079Ile
ENST00000370225.3:c.6235C>A ENSP00000359245.3:p.Leu2079Ile
ENST00000465352.1:n.651C>A
ENST00000536513.5:c.2611C>A ENSP00000439707.2:p.Leu871Ile
NM_000350.2:c.6235C>A NP_000341.2:p.Leu2079Ile
NM_000350.3:c.6235C>A MANE Select NP_000341.2:p.Leu2079Ile
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