Canonical Allele Identifier: CA220687
Gene: ABCA4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92870
dbSNP Id: rs1800728

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011395A>G , CM000663.2:g.94011395A>G GRCh38
NC_000001.10:g.94476951A>G , CM000663.1:g.94476951A>G GRCh37
NC_000001.9:g.94249539A>G NCBI36
NG_009073.1:g.114755T>C

Transcript Alleles

HGVS Amino-acid change
NM_000350.2:c.5461-10T>C VV NP_000341.2:p.=
NM_000350.3:c.5461-10T>C VV MANE Preferred
ENST00000370225.3:c.5461-10T>C ENSP00000359245.3:p.=
ENST00000536513.5:c.1837-10T>C ENSP00000439707.2:p.=