Canonical Allele Identifier: CA740503100
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1280796296
MyVariant Identifiers: chr1:g.94467281C>G (hg19) chr1:g.94001725C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001725C>G , CM000663.2:g.94001725C>G GRCh38
NC_000001.10:g.94467281C>G , CM000663.1:g.94467281C>G GRCh37
NC_000001.9:g.94239869C>G NCBI36
NG_009073.1:g.124425G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+133G>C MANE Select ENSP00000359245.3:n.6282+133G>C
ENST00000370225.3:c.6282+133G>C ENSP00000359245.3:n.6282+133G>C
ENST00000465352.1:n.831G>C
ENST00000536513.5:c.2658+133G>C ENSP00000439707.2:n.2658+133G>C
NM_000350.2:c.6282+133G>C NP_000341.2:n.6282+133G>C
NM_000350.3:c.6282+133G>C MANE Select NP_000341.2:n.6282+133G>C
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