Canonical Allele Identifier: CA202924
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99440
dbSNP Id: rs1801359

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001891G>A , CM000663.2:g.94001891G>A GRCh38
NC_000001.10:g.94467447G>A , CM000663.1:g.94467447G>A GRCh37
NC_000001.9:g.94240035G>A NCBI36
NG_009073.1:g.124259C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6249C>T MANE Select ENSP00000359245.3:p.Ile2083=
ENST00000370225.3:c.6249C>T ENSP00000359245.3:p.Ile2083=
ENST00000465352.1:n.665C>T
ENST00000536513.5:c.2625C>T ENSP00000439707.2:p.Ile875=
NM_000350.2:c.6249C>T NP_000341.2:p.Ile2083=
NM_000350.3:c.6249C>T MANE Select NP_000341.2:p.Ile2083=