Canonical Allele Identifier: CA2646645436
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001845-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001845A>C , CM000663.2:g.94001845A>C GRCh38
NC_000001.10:g.94467401A>C , CM000663.1:g.94467401A>C GRCh37
NC_000001.9:g.94239989A>C NCBI36
NG_009073.1:g.124305T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+13T>G MANE Select ENSP00000359245.3:n.6282+13T>G
ENST00000370225.3:c.6282+13T>G ENSP00000359245.3:n.6282+13T>G
ENST00000465352.1:n.711T>G
ENST00000536513.5:c.2658+13T>G ENSP00000439707.2:n.2658+13T>G
NM_000350.2:c.6282+13T>G NP_000341.2:n.6282+13T>G
NM_000350.3:c.6282+13T>G MANE Select NP_000341.2:n.6282+13T>G