Canonical Allele Identifier: CA740499355
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs560631009
gnomAD v3: 1-94041113-C-G
gnomAD v4: 1-94041113-C-G
MyVariant Identifiers: chr1:g.94506669C>G (hg19) chr1:g.94041113C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041113C>G , CM000663.2:g.94041113C>G GRCh38
NC_000001.10:g.94506669C>G , CM000663.1:g.94506669C>G GRCh37
NC_000001.9:g.94279257C>G NCBI36
NG_009073.1:g.85037G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+96G>C MANE Select ENSP00000359245.3:n.3522+96G>C
ENST00000370225.3:c.3522+96G>C ENSP00000359245.3:n.3522+96G>C
ENST00000536513.5:c.-64-1024G>C ENSP00000439707.2:n.-64-1024G>C
NM_000350.2:c.3522+96G>C NP_000341.2:n.3522+96G>C
NM_000350.3:c.3522+96G>C MANE Select NP_000341.2:n.3522+96G>C
Search 100 bp 5'
Search 100 bp 3'