Canonical Allele Identifier: CA227193

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99284
• ClinVar RCV Id: RCV000085637 ; RCV000408472 ; RCV000763043 ; RCV001073630 ; RCV001808325
• dbSNP Id: rs61750146
• ExAC: 1:94495078 A / G
• gnomAD v2: 1-94495078-A-G
• gnomAD v3: 1-94029522-A-G
• gnomAD v4: 1-94029522-A-G
• MyVariant Identifiers: chr1:g.94495078A>G (hg19) ; chr1:g.94029522A>G (hg38)
• PubMed: PMID:9973280 ; PMID:11017087 ; PMID:24713488 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029522A>G , CM000663.2:g.94029522A>G	GRCh38
NC_000001.10:g.94495078A>G , CM000663.1:g.94495078A>G	GRCh37
NC_000001.9:g.94267666A>G	NCBI36
NG_009073.1:g.96628T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.4462T>C MANE Select	ENSP00000359245.3:p.Cys1488Arg
ENST00000370225.3:c.4462T>C	ENSP00000359245.3:p.Cys1488Arg
ENST00000536513.5:c.838T>C	ENSP00000439707.2:p.Cys280Arg
NM_000350.2:c.4462T>C	NP_000341.2:p.Cys1488Arg
NM_000350.3:c.4462T>C MANE Select	NP_000341.2:p.Cys1488Arg