Canonical Allele Identifier: CA957087
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2800541
ClinVar RCV Id: RCV003673564
dbSNP Id: rs750212929
ExAC: 1:94473782 A / G
gnomAD v2: 1-94473782-A-G
gnomAD v4: 1-94008226-A-G
MyVariant Identifiers: chr1:g.94473782A>G (hg19) chr1:g.94008226A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008226A>G , CM000663.2:g.94008226A>G GRCh38
NC_000001.10:g.94473782A>G , CM000663.1:g.94473782A>G GRCh37
NC_000001.9:g.94246370A>G NCBI36
NG_009073.1:g.117924T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5898+9T>C MANE Select ENSP00000359245.3:n.5898+9T>C
ENST00000370225.3:c.5898+9T>C ENSP00000359245.3:n.5898+9T>C
ENST00000465352.1:n.314+9T>C
ENST00000536513.5:c.2274+9T>C ENSP00000439707.2:n.2274+9T>C
NM_000350.2:c.5898+9T>C NP_000341.2:n.5898+9T>C
NM_000350.3:c.5898+9T>C MANE Select NP_000341.2:n.5898+9T>C
Search 100 bp 5'
Search 100 bp 3'