Canonical Allele Identifier: CA2646650007
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94031708-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031708A>G , CM000663.2:g.94031708A>G GRCh38
NC_000001.10:g.94497264A>G , CM000663.1:g.94497264A>G GRCh37
NC_000001.9:g.94269852A>G NCBI36
NG_009073.1:g.94442T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4128+70T>C MANE Select ENSP00000359245.3:n.4128+70T>C
ENST00000370225.3:c.4128+70T>C ENSP00000359245.3:n.4128+70T>C
ENST00000536513.5:c.504+70T>C ENSP00000439707.2:n.504+70T>C
NM_000350.2:c.4128+70T>C NP_000341.2:n.4128+70T>C
NM_000350.3:c.4128+70T>C MANE Select NP_000341.2:n.4128+70T>C