Canonical Allele Identifier: CA226963

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99106
• ClinVar RCV Id: RCV000008351 ; RCV000008352 ; RCV000085450 ; RCV000504968
• dbSNP Id: rs61751263
• ExAC: 1:94526316 C / T
• gnomAD v2: 1-94526316-C-T
• gnomAD v3: 1-94060760-C-T
• gnomAD v4: 1-94060760-C-T
• MyVariant Identifiers: chr1:g.94526316C>T (hg19) ; chr1:g.94060760C>T (hg38)
• PubMed: PMID:10874631 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060760C>T , CM000663.2:g.94060760C>T	GRCh38
NC_000001.10:g.94526316C>T , CM000663.1:g.94526316C>T	GRCh37
NC_000001.9:g.94298904C>T	NCBI36
NG_009073.1:g.65390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-1G>A MANE Select	ENSP00000359245.3:n.1938-1G>A
ENST00000649773.1:c.1938-1G>A	ENSP00000496882.1:n.1938-1G>A
ENST00000370225.3:c.1938-1G>A	ENSP00000359245.3:n.1938-1G>A
ENST00000472033.1:n.58-1G>A
ENST00000536513.5:c.-65+2414G>A	ENSP00000439707.2:n.-65+2414G>A
NM_000350.2:c.1938-1G>A	NP_000341.2:n.1938-1G>A
NM_000350.3:c.1938-1G>A MANE Select	NP_000341.2:n.1938-1G>A