Canonical Allele Identifier: CA2646646361
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94008200-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008200G>C , CM000663.2:g.94008200G>C GRCh38
NC_000001.10:g.94473756G>C , CM000663.1:g.94473756G>C GRCh37
NC_000001.9:g.94246344G>C NCBI36
NG_009073.1:g.117950C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5898+35C>G MANE Select ENSP00000359245.3:n.5898+35C>G
ENST00000370225.3:c.5898+35C>G ENSP00000359245.3:n.5898+35C>G
ENST00000465352.1:n.314+35C>G
ENST00000536513.5:c.2274+35C>G ENSP00000439707.2:n.2274+35C>G
NM_000350.2:c.5898+35C>G NP_000341.2:n.5898+35C>G
NM_000350.3:c.5898+35C>G MANE Select NP_000341.2:n.5898+35C>G
Search 100 bp 5'
Search 100 bp 3'