Canonical Allele Identifier: CA341278196
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94467448A>T (hg19) chr1:g.94001892A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001892A>T , CM000663.2:g.94001892A>T GRCh38
NC_000001.10:g.94467448A>T , CM000663.1:g.94467448A>T GRCh37
NC_000001.9:g.94240036A>T NCBI36
NG_009073.1:g.124258T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6248T>A MANE Select ENSP00000359245.3:p.Ile2083Asn
ENST00000370225.3:c.6248T>A ENSP00000359245.3:p.Ile2083Asn
ENST00000465352.1:n.664T>A
ENST00000536513.5:c.2624T>A ENSP00000439707.2:p.Ile875Asn
NM_000350.2:c.6248T>A NP_000341.2:p.Ile2083Asn
NM_000350.3:c.6248T>A MANE Select NP_000341.2:p.Ile2083Asn
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