Canonical Allele Identifier: CA227193
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99284
dbSNP Id: rs61750146

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029522A>G , CM000663.2:g.94029522A>G GRCh38
NC_000001.10:g.94495078A>G , CM000663.1:g.94495078A>G GRCh37
NC_000001.9:g.94267666A>G NCBI36
NG_009073.1:g.96628T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4462T>C MANE Select ENSP00000359245.3:p.Cys1488Arg
ENST00000370225.3:c.4462T>C ENSP00000359245.3:p.Cys1488Arg
ENST00000536513.5:c.838T>C ENSP00000439707.2:p.Cys280Arg
NM_000350.2:c.4462T>C NP_000341.2:p.Cys1488Arg
NM_000350.3:c.4462T>C MANE Select NP_000341.2:p.Cys1488Arg