Canonical Allele Identifier: CA227239

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99321
• ClinVar RCV Id: RCV000085674 ; RCV000408465 ; RCV001002825 ; RCV001074177 ; RCV001808326 ; RCV001257846 ; RCV003387758
• dbSNP Id: rs61750155
• ExAC: 1:94487251 G / T
• gnomAD v2: 1-94487251-G-T
• gnomAD v3: 1-94021695-G-T
• gnomAD v4: 1-94021695-G-T
• MyVariant Identifiers: chr1:g.94487251G>T (hg19) ; chr1:g.94021695G>T (hg38)
• PubMed: PMID:10958761 ; PMID:19074458 ; PMID:20696155 ; PMID:22025579 ; PMID:23105016 ; PMID:25525159 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021695G>T , CM000663.2:g.94021695G>T	GRCh38
NC_000001.10:g.94487251G>T , CM000663.1:g.94487251G>T	GRCh37
NC_000001.9:g.94259839G>T	NCBI36
NG_009073.1:g.104455C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4793C>A MANE Select	ENSP00000359245.3:p.Ala1598Asp
ENST00000370225.3:c.4793C>A	ENSP00000359245.3:p.Ala1598Asp
ENST00000460514.1:n.287C>A
ENST00000536513.5:c.1169C>A	ENSP00000439707.2:p.Ala390Asp
NM_000350.2:c.4793C>A	NP_000341.2:p.Ala1598Asp
NM_000350.3:c.4793C>A MANE Select	NP_000341.2:p.Ala1598Asp