Canonical Allele Identifier: CA341286409
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs758424704
gnomAD v2: 1-94496652-A-T
gnomAD v4: 1-94031096-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031096A>T , CM000663.2:g.94031096A>T GRCh38
NC_000001.10:g.94496652A>T , CM000663.1:g.94496652A>T GRCh37
NC_000001.9:g.94269240A>T NCBI36
NG_009073.1:g.95054T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4153T>A MANE Select ENSP00000359245.3:p.Phe1385Ile
ENST00000370225.3:c.4153T>A ENSP00000359245.3:p.Phe1385Ile
ENST00000536513.5:c.529T>A ENSP00000439707.2:p.Phe177Ile
NM_000350.2:c.4153T>A NP_000341.2:p.Phe1385Ile
NM_000350.3:c.4153T>A MANE Select NP_000341.2:p.Phe1385Ile