Canonical Allele Identifier: CA119133
Gene: ABCA4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7892
dbSNP Id: rs28938473

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007731G>A , CM000663.2:g.94007731G>A GRCh38
NC_000001.10:g.94473287G>A , CM000663.1:g.94473287G>A GRCh37
NC_000001.9:g.94245875G>A NCBI36
NG_009073.1:g.118419C>T

Transcript Alleles

HGVS Amino-acid change
NM_000350.2:c.5908C>T VV NP_000341.2:p.Leu1970Phe
NM_000350.3:c.5908C>T VV MANE Preferred NP_000341.2:p.Leu1970Phe
ENST00000370225.3:c.5908C>T ENSP00000359245.3:p.Leu1970Phe
ENST00000465352.1:n.324C>T
ENST00000484388.1:n.22C>T
ENST00000536513.5:c.2284C>T ENSP00000439707.2:p.Leu762Phe