Canonical Allele Identifier: CA2646650093
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94043627-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043627C>G , CM000663.2:g.94043627C>G GRCh38
NC_000001.10:g.94509183C>G , CM000663.1:g.94509183C>G GRCh37
NC_000001.9:g.94281771C>G NCBI36
NG_009073.1:g.82523G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3051-152G>C MANE Select ENSP00000359245.3:n.3051-152G>C
ENST00000370225.3:c.3051-152G>C ENSP00000359245.3:n.3051-152G>C
ENST00000536513.5:c.-64-3538G>C ENSP00000439707.2:n.-64-3538G>C
NM_000350.2:c.3051-152G>C NP_000341.2:n.3051-152G>C
NM_000350.3:c.3051-152G>C MANE Select NP_000341.2:n.3051-152G>C
Search 100 bp 5'
Search 100 bp 3'