Canonical Allele Identifier: CA341275617
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047087A>C , CM000663.2:g.94047087A>C GRCh38
NC_000001.10:g.94512643A>C , CM000663.1:g.94512643A>C GRCh37
NC_000001.9:g.94285231A>C NCBI36
NG_009073.1:g.79063T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2750T>G MANE Select ENSP00000359245.3:p.Phe917Cys
ENST00000649773.1:c.2528T>G ENSP00000496882.1:p.Phe843Cys
ENST00000370225.3:c.2750T>G ENSP00000359245.3:p.Phe917Cys
ENST00000536513.5:c.-64-6998T>G ENSP00000439707.2:n.-64-6998T>G
NM_000350.2:c.2750T>G NP_000341.2:p.Phe917Cys
NM_000350.3:c.2750T>G MANE Select NP_000341.2:p.Phe917Cys