Canonical Allele Identifier: CA226911

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99067
• ClinVar RCV Id: RCV000085410 ; RCV000504750 ; RCV000408513 ; RCV000505133 ; RCV000787481 ; RCV001002385 ; RCV000787482 ; RCV001196126 ; RCV004528784
• dbSNP Id: rs61751392
• ExAC: 1:94528806 A / G
• gnomAD v2: 1-94528806-A-G
• gnomAD v3: 1-94063250-A-G
• gnomAD v4: 1-94063250-A-G
• MyVariant Identifiers: chr1:g.94528806A>G (hg19) ; chr1:g.94063250A>G (hg38)
• PubMed: PMID:9781034 ; PMID:11017087 ; PMID:16103129 ; PMID:19074458 ; PMID:19217903 ; PMID:23891399 ; PMID:24509150 ; PMID:24713488 ; PMID:25712131 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94063250A>G , CM000663.2:g.94063250A>G	GRCh38
NC_000001.10:g.94528806A>G , CM000663.1:g.94528806A>G	GRCh37
NC_000001.9:g.94301394A>G	NCBI36
NG_009073.1:g.62900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1622T>C MANE Select	ENSP00000359245.3:p.Leu541Pro
ENST00000649773.1:c.1622T>C	ENSP00000496882.1:p.Leu541Pro
ENST00000370225.3:c.1622T>C	ENSP00000359245.3:p.Leu541Pro
NM_000350.2:c.1622T>C	NP_000341.2:p.Leu541Pro
NM_000350.3:c.1622T>C MANE Select	NP_000341.2:p.Leu541Pro