Canonical Allele Identifier: CA341278223
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs753921905
MyVariant Identifiers: chr1:g.94467461G>C (hg19) chr1:g.94001905G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001905G>C , CM000663.2:g.94001905G>C GRCh38
NC_000001.10:g.94467461G>C , CM000663.1:g.94467461G>C GRCh37
NC_000001.9:g.94240049G>C NCBI36
NG_009073.1:g.124245C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6235C>G MANE Select ENSP00000359245.3:p.Leu2079Val
ENST00000370225.3:c.6235C>G ENSP00000359245.3:p.Leu2079Val
ENST00000465352.1:n.651C>G
ENST00000536513.5:c.2611C>G ENSP00000439707.2:p.Leu871Val
NM_000350.2:c.6235C>G NP_000341.2:p.Leu2079Val
NM_000350.3:c.6235C>G MANE Select NP_000341.2:p.Leu2079Val
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