Canonical Allele Identifier: CA341283152
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486924A>C (hg19) chr1:g.94021368A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021368A>C , CM000663.2:g.94021368A>C GRCh38
NC_000001.10:g.94486924A>C , CM000663.1:g.94486924A>C GRCh37
NC_000001.9:g.94259512A>C NCBI36
NG_009073.1:g.104782T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4890T>G MANE Select ENSP00000359245.3:p.Phe1630Leu
ENST00000370225.3:c.4890T>G ENSP00000359245.3:p.Phe1630Leu
ENST00000460514.1:n.384T>G
ENST00000536513.5:c.1266T>G ENSP00000439707.2:p.Phe422Leu
NM_000350.2:c.4890T>G NP_000341.2:p.Phe1630Leu
NM_000350.3:c.4890T>G MANE Select NP_000341.2:p.Phe1630Leu
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