Canonical Allele Identifier: CA957302

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236129
• ClinVar RCV Id: RCV000408555 ; RCV000441041 ; RCV000826133 ; RCV001074401 ; RCV002485455
• dbSNP Id: rs760549861
• ExAC: 1:94480241 G / A
• gnomAD v2: 1-94480241-G-A
• gnomAD v3: 1-94014685-G-A
• gnomAD v4: 1-94014685-G-A
• COSMIC: COSM1580382
• MyVariant Identifiers: chr1:g.94480241G>A (hg19) ; chr1:g.94014685G>A (hg38)
• PubMed: PMID:18652558 ; PMID:23591405 ; PMID:25283059 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94014685G>A , CM000663.2:g.94014685G>A	GRCh38
NC_000001.10:g.94480241G>A , CM000663.1:g.94480241G>A	GRCh37
NC_000001.9:g.94252829G>A	NCBI36
NG_009073.1:g.111465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5318C>T MANE Select	ENSP00000359245.3:p.Ala1773Val
ENST00000370225.3:c.5318C>T	ENSP00000359245.3:p.Ala1773Val
ENST00000536513.5:c.1694C>T	ENSP00000439707.2:p.Ala565Val
NM_000350.2:c.5318C>T	NP_000341.2:p.Ala1773Val
NM_000350.3:c.5318C>T MANE Select	NP_000341.2:p.Ala1773Val