Canonical Allele Identifier: CA341283709
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94487264T>G (hg19) chr1:g.94021708T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021708T>G , CM000663.2:g.94021708T>G GRCh38
NC_000001.10:g.94487264T>G , CM000663.1:g.94487264T>G GRCh37
NC_000001.9:g.94259852T>G NCBI36
NG_009073.1:g.104442A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4780A>C MANE Select ENSP00000359245.3:p.Ile1594Leu
ENST00000370225.3:c.4780A>C ENSP00000359245.3:p.Ile1594Leu
ENST00000460514.1:n.274A>C
ENST00000536513.5:c.1156A>C ENSP00000439707.2:p.Ile386Leu
NM_000350.2:c.4780A>C NP_000341.2:p.Ile1594Leu
NM_000350.3:c.4780A>C MANE Select NP_000341.2:p.Ile1594Leu
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