Canonical Allele Identifier: CA227271

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99343
• ClinVar RCV Id: RCV000085696 ; RCV001073371 ; RCV002255285 ; RCV004528785 ; RCV002470765
• dbSNP Id: rs61750563
• ExAC: 1:94485257 C / T
• gnomAD v2: 1-94485257-C-T
• gnomAD v3: 1-94019701-C-T
• gnomAD v4: 1-94019701-C-T
• MyVariant Identifiers: chr1:g.94485257C>T (hg19) ; chr1:g.94019701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94019701C>T , CM000663.2:g.94019701C>T	GRCh38
NC_000001.10:g.94485257C>T , CM000663.1:g.94485257C>T	GRCh37
NC_000001.9:g.94257845C>T	NCBI36
NG_009073.1:g.106449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5077G>A MANE Select	ENSP00000359245.3:p.Val1693Ile
ENST00000370225.3:c.5077G>A	ENSP00000359245.3:p.Val1693Ile
ENST00000460514.1:n.571G>A
ENST00000470771.1:n.187G>A
ENST00000536513.5:c.1453G>A	ENSP00000439707.2:p.Val485Ile
NM_000350.2:c.5077G>A	NP_000341.2:p.Val1693Ile
NM_000350.3:c.5077G>A MANE Select	NP_000341.2:p.Val1693Ile