Canonical Allele Identifier: CA227333
Gene: ABCA4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 99398
dbSNP Id: rs1800552

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010821C>T , CM000663.2:g.94010821C>T GRCh38
NC_000001.10:g.94476377C>T , CM000663.1:g.94476377C>T GRCh37
NC_000001.9:g.94248965C>T NCBI36
NG_009073.1:g.115329G>A

Transcript Alleles

HGVS Amino-acid change
NM_000350.2:c.5693G>A VV NP_000341.2:p.Arg1898His
NM_000350.3:c.5693G>A VV MANE Preferred NP_000341.2:p.Arg1898His
ENST00000370225.3:c.5693G>A ENSP00000359245.3:p.Arg1898His
ENST00000465352.1:n.109G>A
ENST00000536513.5:c.2069G>A ENSP00000439707.2:p.Arg690His