Canonical Allele Identifier: CA227013
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7883
ClinVar RCV Id: RCV000008334 RCV000085489
dbSNP Id: rs61749438
MyVariant Identifiers: chr1:g.94520689C>T (hg19) chr1:g.94055133C>T (hg38)
PubMed: PMID:9490294
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94055133C>T , CM000663.2:g.94055133C>T GRCh38
NC_000001.10:g.94520689C>T , CM000663.1:g.94520689C>T GRCh37
NC_000001.9:g.94293277C>T NCBI36
NG_009073.1:g.71017G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2565G>A MANE Select ENSP00000359245.3:p.Trp855Ter
ENST00000649773.1:c.2343G>A ENSP00000496882.1:p.Trp781Ter
ENST00000370225.3:c.2565G>A ENSP00000359245.3:p.Trp855Ter
ENST00000536513.5:c.-65+8041G>A ENSP00000439707.2:n.-65+8041G>A
NM_000350.2:c.2565G>A NP_000341.2:p.Trp855Ter
NM_000350.3:c.2565G>A MANE Select NP_000341.2:p.Trp855Ter
Search 100 bp 5'
Search 100 bp 3'