Canonical Allele Identifier: CA227031

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 7880
• ClinVar RCV Id: RCV000008330 ; RCV000085506 ; RCV001002838 ; RCV001073603 ; RCV001807722 ; RCV002247267
• dbSNP Id: rs58331765
• ExAC: 1:94512602 C / T
• gnomAD v2: 1-94512602-C-T
• gnomAD v3: 1-94047046-C-T
• gnomAD v4: 1-94047046-C-T
• MyVariant Identifiers: chr1:g.94512602C>T (hg19) ; chr1:g.94047046C>T (hg38)
• PubMed: PMID:10880298

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047046C>T , CM000663.2:g.94047046C>T	GRCh38
NC_000001.10:g.94512602C>T , CM000663.1:g.94512602C>T	GRCh37
NC_000001.9:g.94285190C>T	NCBI36
NG_009073.1:g.79104G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2791G>A MANE Select	ENSP00000359245.3:p.Val931Met
ENST00000649773.1:c.2569G>A	ENSP00000496882.1:p.Val857Met
ENST00000370225.3:c.2791G>A	ENSP00000359245.3:p.Val931Met
ENST00000536513.5:c.-64-6957G>A	ENSP00000439707.2:n.-64-6957G>A
NM_000350.2:c.2791G>A	NP_000341.2:p.Val931Met
NM_000350.3:c.2791G>A MANE Select	NP_000341.2:p.Val931Met