Canonical Allele Identifier: CA740506514
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2870487
ClinVar RCV Id: RCV003703293
dbSNP Id: rs1253802366
gnomAD v4: 1-94010785-G-A
MyVariant Identifiers: chr1:g.94476341G>A (hg19) chr1:g.94010785G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010785G>A , CM000663.2:g.94010785G>A GRCh38
NC_000001.10:g.94476341G>A , CM000663.1:g.94476341G>A GRCh37
NC_000001.9:g.94248929G>A NCBI36
NG_009073.1:g.115365C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+15C>T MANE Select ENSP00000359245.3:n.5714+15C>T
ENST00000370225.3:c.5714+15C>T ENSP00000359245.3:n.5714+15C>T
ENST00000465352.1:n.130+15C>T
ENST00000536513.5:c.2090+15C>T ENSP00000439707.2:n.2090+15C>T
NM_000350.2:c.5714+15C>T NP_000341.2:n.5714+15C>T
NM_000350.3:c.5714+15C>T MANE Select NP_000341.2:n.5714+15C>T
Search 100 bp 5'
Search 100 bp 3'