Canonical Allele Identifier: CA16042332
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 372289
dbSNP Id: rs865990202
gnomAD v4: 1-94060709-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060709C>T , CM000663.2:g.94060709C>T GRCh38
NC_000001.10:g.94526265C>T , CM000663.1:g.94526265C>T GRCh37
NC_000001.9:g.94298853C>T NCBI36
NG_009073.1:g.65441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1988G>A MANE Select ENSP00000359245.3:p.Trp663Ter
ENST00000649773.1:c.1988G>A ENSP00000496882.1:p.Trp663Ter
ENST00000370225.3:c.1988G>A ENSP00000359245.3:p.Trp663Ter
ENST00000472033.1:n.108G>A
ENST00000536513.5:c.-65+2465G>A ENSP00000439707.2:n.-65+2465G>A
NM_000350.2:c.1988G>A NP_000341.2:p.Trp663Ter
NM_000350.3:c.1988G>A MANE Select NP_000341.2:p.Trp663Ter