Canonical Allele Identifier: CA16042404
Gene: ABCA4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372291
ClinVar RCV Id: RCV000412823
dbSNP Id: rs1057517701

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041328G>A , CM000663.2:g.94041328G>A GRCh38
NC_000001.10:g.94506884G>A , CM000663.1:g.94506884G>A GRCh37
NC_000001.9:g.94279472G>A NCBI36
NG_009073.1:g.84822C>T

Transcript Alleles

HGVS Amino-acid change
NM_000350.2:c.3403C>T VV NP_000341.2:p.Gln1135Ter
NM_000350.3:c.3403C>T VV MANE Preferred
ENST00000370225.3:c.3403C>T ENSP00000359245.3:p.Gln1135Ter
ENST00000536513.5:c.-64-1239C>T ENSP00000439707.2:p.=