Canonical Allele Identifier: CA341280031
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94473852A>T (hg19) chr1:g.94008296A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008296A>T , CM000663.2:g.94008296A>T GRCh38
NC_000001.10:g.94473852A>T , CM000663.1:g.94473852A>T GRCh37
NC_000001.9:g.94246440A>T NCBI36
NG_009073.1:g.117854T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5837T>A MANE Select ENSP00000359245.3:p.Ile1946Asn
ENST00000370225.3:c.5837T>A ENSP00000359245.3:p.Ile1946Asn
ENST00000465352.1:n.253T>A
ENST00000536513.5:c.2213T>A ENSP00000439707.2:p.Ile738Asn
NM_000350.2:c.5837T>A NP_000341.2:p.Ile1946Asn
NM_000350.3:c.5837T>A MANE Select NP_000341.2:p.Ile1946Asn
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