Canonical Allele Identifier: CA341286739
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94031789-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031789A>C , CM000663.2:g.94031789A>C GRCh38
NC_000001.10:g.94497345A>C , CM000663.1:g.94497345A>C GRCh37
NC_000001.9:g.94269933A>C NCBI36
NG_009073.1:g.94361T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4117T>G MANE Select ENSP00000359245.3:p.Phe1373Val
ENST00000370225.3:c.4117T>G ENSP00000359245.3:p.Phe1373Val
ENST00000536513.5:c.493T>G ENSP00000439707.2:p.Phe165Val
NM_000350.2:c.4117T>G NP_000341.2:p.Phe1373Val
NM_000350.3:c.4117T>G MANE Select NP_000341.2:p.Phe1373Val