Canonical Allele Identifier: CA16042373
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 372579
dbSNP Id: rs1057517869
COSMIC: COSM913451

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94037276C>A , CM000663.2:g.94037276C>A GRCh38
NC_000001.10:g.94502832C>A , CM000663.1:g.94502832C>A GRCh37
NC_000001.9:g.94275420C>A NCBI36
NG_009073.1:g.88874G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3682G>T MANE Select ENSP00000359245.3:p.Glu1228Ter
ENST00000370225.3:c.3682G>T ENSP00000359245.3:p.Glu1228Ter
ENST00000536513.5:c.58G>T ENSP00000439707.2:p.Glu20Ter
NM_000350.2:c.3682G>T NP_000341.2:p.Glu1228Ter
NM_000350.3:c.3682G>T MANE Select NP_000341.2:p.Glu1228Ter