Canonical Allele Identifier: CA227048
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99172
dbSNP Id: rs61749449

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046944T>C , CM000663.2:g.94046944T>C GRCh38
NC_000001.10:g.94512500T>C , CM000663.1:g.94512500T>C GRCh37
NC_000001.9:g.94285088T>C NCBI36
NG_009073.1:g.79206A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2893A>G MANE Select ENSP00000359245.3:p.Asn965Asp
ENST00000649773.1:c.2671A>G ENSP00000496882.1:p.Asn891Asp
ENST00000370225.3:c.2893A>G ENSP00000359245.3:p.Asn965Asp
ENST00000536513.5:c.-64-6855A>G ENSP00000439707.2:n.-64-6855A>G
NM_000350.2:c.2893A>G NP_000341.2:p.Asn965Asp
NM_000350.3:c.2893A>G MANE Select NP_000341.2:p.Asn965Asp