Canonical Allele Identifier: CA341278231
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001908-T-C
MyVariant Identifiers: chr1:g.94467464T>C (hg19) chr1:g.94001908T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001908T>C , CM000663.2:g.94001908T>C GRCh38
NC_000001.10:g.94467464T>C , CM000663.1:g.94467464T>C GRCh37
NC_000001.9:g.94240052T>C NCBI36
NG_009073.1:g.124242A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6232A>G MANE Select ENSP00000359245.3:p.Lys2078Glu
ENST00000370225.3:c.6232A>G ENSP00000359245.3:p.Lys2078Glu
ENST00000465352.1:n.648A>G
ENST00000536513.5:c.2608A>G ENSP00000439707.2:p.Lys870Glu
NM_000350.2:c.6232A>G NP_000341.2:p.Lys2078Glu
NM_000350.3:c.6232A>G MANE Select NP_000341.2:p.Lys2078Glu
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