Canonical Allele Identifier: CA341284061
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866119
ClinVar RCV Id: RCV001073886 RCV003727841
dbSNP Id: rs1659914654
gnomAD v4: 1-94021943-C-T
MyVariant Identifiers: chr1:g.94487499C>T (hg19) chr1:g.94021943C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021943C>T , CM000663.2:g.94021943C>T GRCh38
NC_000001.10:g.94487499C>T , CM000663.1:g.94487499C>T GRCh37
NC_000001.9:g.94260087C>T NCBI36
NG_009073.1:g.104207G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4676G>A MANE Select ENSP00000359245.3:p.Gly1559Glu
ENST00000370225.3:c.4676G>A ENSP00000359245.3:p.Gly1559Glu
ENST00000460514.1:n.170G>A
ENST00000536513.5:c.1052G>A ENSP00000439707.2:p.Gly351Glu
NM_000350.2:c.4676G>A NP_000341.2:p.Gly1559Glu
NM_000350.3:c.4676G>A MANE Select NP_000341.2:p.Gly1559Glu
Search 100 bp 5'
Search 100 bp 3'