Canonical Allele Identifier: CA645521338
Gene: ABCA4 HGNC NCBI

Linked Data

COSMIC: COSM5616762 COSM5616763
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001996G>T , CM000663.2:g.94001996G>T GRCh38
NC_000001.10:g.94467552G>T , CM000663.1:g.94467552G>T GRCh37
NC_000001.9:g.94240140G>T NCBI36
NG_009073.1:g.124154C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148-4C>A MANE Select ENSP00000359245.3:n.6148-4C>A
ENST00000370225.3:c.6148-4C>A ENSP00000359245.3:n.6148-4C>A
ENST00000465352.1:n.564-4C>A
ENST00000536513.5:c.2524-4C>A ENSP00000439707.2:n.2524-4C>A
NM_000350.2:c.6148-4C>A NP_000341.2:n.6148-4C>A
NM_000350.3:c.6148-4C>A MANE Select NP_000341.2:n.6148-4C>A
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