Canonical Allele Identifier: CA2646645434
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001838-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001838C>A , CM000663.2:g.94001838C>A GRCh38
NC_000001.10:g.94467394C>A , CM000663.1:g.94467394C>A GRCh37
NC_000001.9:g.94239982C>A NCBI36
NG_009073.1:g.124312G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+20G>T MANE Select ENSP00000359245.3:n.6282+20G>T
ENST00000370225.3:c.6282+20G>T ENSP00000359245.3:n.6282+20G>T
ENST00000465352.1:n.718G>T
ENST00000536513.5:c.2658+20G>T ENSP00000439707.2:n.2658+20G>T
NM_000350.2:c.6282+20G>T NP_000341.2:n.6282+20G>T
NM_000350.3:c.6282+20G>T MANE Select NP_000341.2:n.6282+20G>T