Canonical Allele Identifier: CA227304

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99371
• ClinVar RCV Id: RCV000085725 ; RCV000504739 ; RCV000677343
• dbSNP Id: rs61751406
• ExAC: 1:94480178 G / T
• gnomAD v2: 1-94480178-G-T
• gnomAD v3: 1-94014622-G-T
• gnomAD v4: 1-94014622-G-T
• MyVariant Identifiers: chr1:g.94480178G>T (hg19) ; chr1:g.94014622G>T (hg38)
• PubMed: PMID:10090887 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94014622G>T , CM000663.2:g.94014622G>T	GRCh38
NC_000001.10:g.94480178G>T , CM000663.1:g.94480178G>T	GRCh37
NC_000001.9:g.94252766G>T	NCBI36
NG_009073.1:g.111528C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5381C>A MANE Select	ENSP00000359245.3:p.Ala1794Asp
ENST00000370225.3:c.5381C>A	ENSP00000359245.3:p.Ala1794Asp
ENST00000536513.5:c.1757C>A	ENSP00000439707.2:p.Ala586Asp
NM_000350.2:c.5381C>A	NP_000341.2:p.Ala1794Asp
NM_000350.3:c.5381C>A MANE Select	NP_000341.2:p.Ala1794Asp