Canonical Allele Identifier: CA227219

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99304
• ClinVar RCV Id: RCV000085657 ; RCV000177510 ; RCV001002826 ; RCV001074286 ; RCV001535669 ; RCV004529890 ; RCV003235039
• dbSNP Id: rs62642574
• ExAC: 1:94490550 C / T
• gnomAD v2: 1-94490550-C-T
• gnomAD v3: 1-94024994-C-T
• gnomAD v4: 1-94024994-C-T
• MyVariant Identifiers: chr1:g.94490550C>T (hg19) ; chr1:g.94024994C>T (hg38)
• PubMed: PMID:9973280 ; PMID:19217903 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94024994C>T , CM000663.2:g.94024994C>T	GRCh38
NC_000001.10:g.94490550C>T , CM000663.1:g.94490550C>T	GRCh37
NC_000001.9:g.94263138C>T	NCBI36
NG_009073.1:g.101156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4594G>A MANE Select	ENSP00000359245.3:p.Asp1532Asn
ENST00000370225.3:c.4594G>A	ENSP00000359245.3:p.Asp1532Asn
ENST00000460514.1:n.88G>A
ENST00000536513.5:c.970G>A	ENSP00000439707.2:p.Asp324Asn
NM_000350.2:c.4594G>A	NP_000341.2:p.Asp1532Asn
NM_000350.3:c.4594G>A MANE Select	NP_000341.2:p.Asp1532Asn