Canonical Allele Identifier: CA220679
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 92865
dbSNP Id: rs398123337

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047055C>A , CM000663.2:g.94047055C>A GRCh38
NC_000001.10:g.94512611C>A , CM000663.1:g.94512611C>A GRCh37
NC_000001.9:g.94285199C>A NCBI36
NG_009073.1:g.79095G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2782G>T MANE Select ENSP00000359245.3:p.Gly928Trp
ENST00000649773.1:c.2560G>T ENSP00000496882.1:p.Gly854Trp
ENST00000370225.3:c.2782G>T ENSP00000359245.3:p.Gly928Trp
ENST00000536513.5:c.-64-6966G>T ENSP00000439707.2:n.-64-6966G>T
NM_000350.2:c.2782G>T NP_000341.2:p.Gly928Trp
NM_000350.3:c.2782G>T MANE Select NP_000341.2:p.Gly928Trp