Canonical Allele Identifier: CA341284962
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94029524-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029524G>A , CM000663.2:g.94029524G>A GRCh38
NC_000001.10:g.94495080G>A , CM000663.1:g.94495080G>A GRCh37
NC_000001.9:g.94267668G>A NCBI36
NG_009073.1:g.96626C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4460C>T MANE Select ENSP00000359245.3:p.Ser1487Phe
ENST00000370225.3:c.4460C>T ENSP00000359245.3:p.Ser1487Phe
ENST00000536513.5:c.836C>T ENSP00000439707.2:p.Ser279Phe
NM_000350.2:c.4460C>T NP_000341.2:p.Ser1487Phe
NM_000350.3:c.4460C>T MANE Select NP_000341.2:p.Ser1487Phe