Canonical Allele Identifier: CA227392
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99450
ClinVar RCV Id: RCV000085809 RCV000504640
dbSNP Id: rs62642565
MyVariant Identifiers: chr1:g.94466615C>T (hg19) chr1:g.94001059C>T (hg38)
PubMed: PMID:10958761 PMID:28041643
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001059C>T , CM000663.2:g.94001059C>T GRCh38
NC_000001.10:g.94466615C>T , CM000663.1:g.94466615C>T GRCh37
NC_000001.9:g.94239203C>T NCBI36
NG_009073.1:g.125091G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6329G>A MANE Select ENSP00000359245.3:p.Trp2110Ter
ENST00000370225.3:c.6329G>A ENSP00000359245.3:p.Trp2110Ter
ENST00000536513.5:c.2705G>A ENSP00000439707.2:p.Trp902Ter
NM_000350.2:c.6329G>A NP_000341.2:p.Trp2110Ter
NM_000350.3:c.6329G>A MANE Select NP_000341.2:p.Trp2110Ter
Search 100 bp 5'
Search 100 bp 3'