Canonical Allele Identifier: CA341291352
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1166656768
gnomAD v2: 1-94506947-T-G
gnomAD v4: 1-94041391-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041391T>G , CM000663.2:g.94041391T>G GRCh38
NC_000001.10:g.94506947T>G , CM000663.1:g.94506947T>G GRCh37
NC_000001.9:g.94279535T>G NCBI36
NG_009073.1:g.84759A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3340A>C MANE Select ENSP00000359245.3:p.Ile1114Leu
ENST00000370225.3:c.3340A>C ENSP00000359245.3:p.Ile1114Leu
ENST00000536513.5:c.-64-1302A>C ENSP00000439707.2:n.-64-1302A>C
NM_000350.2:c.3340A>C NP_000341.2:p.Ile1114Leu
NM_000350.3:c.3340A>C MANE Select NP_000341.2:p.Ile1114Leu