Canonical Allele Identifier: CA958119
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs369600184
gnomAD v2: 1-94512446-G-A
gnomAD v3: 1-94046890-G-A
gnomAD v4: 1-94046890-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046890G>A , CM000663.2:g.94046890G>A GRCh38
NC_000001.10:g.94512446G>A , CM000663.1:g.94512446G>A GRCh37
NC_000001.9:g.94285034G>A NCBI36
NG_009073.1:g.79260C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2918+29C>T MANE Select ENSP00000359245.3:n.2918+29C>T
ENST00000649773.1:c.2696+29C>T ENSP00000496882.1:n.2696+29C>T
ENST00000370225.3:c.2918+29C>T ENSP00000359245.3:n.2918+29C>T
ENST00000536513.5:c.-64-6801C>T ENSP00000439707.2:n.-64-6801C>T
NM_000350.2:c.2918+29C>T NP_000341.2:n.2918+29C>T
NM_000350.3:c.2918+29C>T MANE Select NP_000341.2:n.2918+29C>T