Canonical Allele Identifier: CA958146

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 286835
• ClinVar RCV Id: RCV000316390 ; RCV001075267 ; RCV001101951 ; RCV002487242
• dbSNP Id: rs144995371
• ExAC: 1:94512574 G / C
• gnomAD v2: 1-94512574-G-C
• gnomAD v3: 1-94047018-G-C
• gnomAD v4: 1-94047018-G-C
• MyVariant Identifiers: chr1:g.94512574G>C (hg19) ; chr1:g.94047018G>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047018G>C , CM000663.2:g.94047018G>C	GRCh38
NC_000001.10:g.94512574G>C , CM000663.1:g.94512574G>C	GRCh37
NC_000001.9:g.94285162G>C	NCBI36
NG_009073.1:g.79132C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2819C>G MANE Select	ENSP00000359245.3:p.Pro940Arg
ENST00000649773.1:c.2597C>G	ENSP00000496882.1:p.Pro866Arg
ENST00000370225.3:c.2819C>G	ENSP00000359245.3:p.Pro940Arg
ENST00000536513.5:c.-64-6929C>G	ENSP00000439707.2:n.-64-6929C>G
NM_000350.2:c.2819C>G	NP_000341.2:p.Pro940Arg
NM_000350.3:c.2819C>G MANE Select	NP_000341.2:p.Pro940Arg