Canonical Allele Identifier: CA2646646026
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94010736-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010736G>T , CM000663.2:g.94010736G>T GRCh38
NC_000001.10:g.94476292G>T , CM000663.1:g.94476292G>T GRCh37
NC_000001.9:g.94248880G>T NCBI36
NG_009073.1:g.115414C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+64C>A MANE Select ENSP00000359245.3:n.5714+64C>A
ENST00000370225.3:c.5714+64C>A ENSP00000359245.3:n.5714+64C>A
ENST00000465352.1:n.130+64C>A
ENST00000536513.5:c.2090+64C>A ENSP00000439707.2:n.2090+64C>A
NM_000350.2:c.5714+64C>A NP_000341.2:n.5714+64C>A
NM_000350.3:c.5714+64C>A MANE Select NP_000341.2:n.5714+64C>A