Canonical Allele Identifier: CA341285362
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1451620
ClinVar RCV Id: RCV002007319
dbSNP Id: rs2101162260
MyVariant Identifiers: chr1:g.94577009T>A (hg19) chr1:g.94111453T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111453T>A , CM000663.2:g.94111453T>A GRCh38
NC_000001.10:g.94577009T>A , CM000663.1:g.94577009T>A GRCh37
NC_000001.9:g.94349597T>A NCBI36
NG_009073.1:g.14697A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.287A>T MANE Select ENSP00000359245.3:p.Asn96Ile
ENST00000649773.1:c.287A>T ENSP00000496882.1:p.Asn96Ile
ENST00000370225.3:c.287A>T ENSP00000359245.3:p.Asn96Ile
NM_000350.2:c.287A>T NP_000341.2:p.Asn96Ile
NM_000350.3:c.287A>T MANE Select NP_000341.2:p.Asn96Ile
Search 100 bp 5'
Search 100 bp 3'