Canonical Allele Identifier: CA418822151
Gene: ABCA4 HGNC NCBI

Linked Data

COSMIC: COSM5623724 COSM5623725
MyVariant Identifiers: chr1:g.94528246A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062690A>G , CM000663.2:g.94062690A>G GRCh38
NC_000001.10:g.94528246A>G , CM000663.1:g.94528246A>G GRCh37
NC_000001.9:g.94300834A>G NCBI36
NG_009073.1:g.63460T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1824T>C MANE Select ENSP00000359245.3:p.Phe608=
ENST00000649773.1:c.1824T>C ENSP00000496882.1:p.Phe608=
ENST00000370225.3:c.1824T>C ENSP00000359245.3:p.Phe608=
ENST00000536513.5:c.-65+484T>C ENSP00000439707.2:n.-65+484T>C
NM_000350.2:c.1824T>C NP_000341.2:p.Phe608=
NM_000350.3:c.1824T>C MANE Select NP_000341.2:p.Phe608=
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