Canonical Allele Identifier: CA958364

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 288341
• ClinVar RCV Id: RCV000329208 ; RCV000478104 ; RCV001074658
• dbSNP Id: rs575453437
• ExAC: 1:94526230 C / T
• gnomAD v2: 1-94526230-C-T
• gnomAD v3: 1-94060674-C-T
• gnomAD v4: 1-94060674-C-T
• COSMIC: COSM4649619 ; COSM4649620
• MyVariant Identifiers: chr1:g.94526230C>T (hg19) ; chr1:g.94060674C>T (hg38)
• PubMed: PMID:23499370 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060674C>T , CM000663.2:g.94060674C>T	GRCh38
NC_000001.10:g.94526230C>T , CM000663.1:g.94526230C>T	GRCh37
NC_000001.9:g.94298818C>T	NCBI36
NG_009073.1:g.65476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2023G>A MANE Select	ENSP00000359245.3:p.Val675Ile
ENST00000649773.1:c.2023G>A	ENSP00000496882.1:p.Val675Ile
ENST00000370225.3:c.2023G>A	ENSP00000359245.3:p.Val675Ile
ENST00000472033.1:n.143G>A
ENST00000536513.5:c.-65+2500G>A	ENSP00000439707.2:n.-65+2500G>A
NM_000350.2:c.2023G>A	NP_000341.2:p.Val675Ile
NM_000350.3:c.2023G>A MANE Select	NP_000341.2:p.Val675Ile