Canonical Allele Identifier: CA341279912
Gene: ABCA4 HGNC NCBI

Linked Data

COSMIC: COSM4827322
MyVariant Identifiers: chr1:g.94473823C>A (hg19) chr1:g.94008267C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008267C>A , CM000663.2:g.94008267C>A GRCh38
NC_000001.10:g.94473823C>A , CM000663.1:g.94473823C>A GRCh37
NC_000001.9:g.94246411C>A NCBI36
NG_009073.1:g.117883G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5866G>T MANE Select ENSP00000359245.3:p.Asp1956Tyr
ENST00000370225.3:c.5866G>T ENSP00000359245.3:p.Asp1956Tyr
ENST00000465352.1:n.282G>T
ENST00000536513.5:c.2242G>T ENSP00000439707.2:p.Asp748Tyr
NM_000350.2:c.5866G>T NP_000341.2:p.Asp1956Tyr
NM_000350.3:c.5866G>T MANE Select NP_000341.2:p.Asp1956Tyr
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