Canonical Allele Identifier: CA341291347
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94506946A>T (hg19) chr1:g.94041390A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041390A>T , CM000663.2:g.94041390A>T GRCh38
NC_000001.10:g.94506946A>T , CM000663.1:g.94506946A>T GRCh37
NC_000001.9:g.94279534A>T NCBI36
NG_009073.1:g.84760T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3341T>A MANE Select ENSP00000359245.3:p.Ile1114Asn
ENST00000370225.3:c.3341T>A ENSP00000359245.3:p.Ile1114Asn
ENST00000536513.5:c.-64-1301T>A ENSP00000439707.2:n.-64-1301T>A
NM_000350.2:c.3341T>A NP_000341.2:p.Ile1114Asn
NM_000350.3:c.3341T>A MANE Select NP_000341.2:p.Ile1114Asn
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