Canonical Allele Identifier: CA2586966854
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94000999-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94000999T>C , CM000663.2:g.94000999T>C GRCh38
NC_000001.10:g.94466555T>C , CM000663.1:g.94466555T>C GRCh37
NC_000001.9:g.94239143T>C NCBI36
NG_009073.1:g.125151A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6386+3A>G MANE Select ENSP00000359245.3:n.6386+3A>G
ENST00000370225.3:c.6386+3A>G ENSP00000359245.3:n.6386+3A>G
ENST00000536513.5:c.2762+3A>G ENSP00000439707.2:n.2762+3A>G
NM_000350.2:c.6386+3A>G NP_000341.2:n.6386+3A>G
NM_000350.3:c.6386+3A>G MANE Select NP_000341.2:n.6386+3A>G
Search 100 bp 5'
Search 100 bp 3'