Canonical Allele Identifier: CA957934
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs770686826
gnomAD v2: 1-94506820-T-A
gnomAD v4: 1-94041264-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041264T>A , CM000663.2:g.94041264T>A GRCh38
NC_000001.10:g.94506820T>A , CM000663.1:g.94506820T>A GRCh37
NC_000001.9:g.94279408T>A NCBI36
NG_009073.1:g.84886A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3467A>T MANE Select ENSP00000359245.3:p.Tyr1156Phe
ENST00000370225.3:c.3467A>T ENSP00000359245.3:p.Tyr1156Phe
ENST00000536513.5:c.-64-1175A>T ENSP00000439707.2:n.-64-1175A>T
NM_000350.2:c.3467A>T NP_000341.2:p.Tyr1156Phe
NM_000350.3:c.3467A>T MANE Select NP_000341.2:p.Tyr1156Phe