Canonical Allele Identifier: CA956985

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 689736
• ClinVar RCV Id: RCV000850519 ; RCV001234782 ; RCV001262439 ; RCV002051899 ; RCV001074418
• dbSNP Id: rs367839100
• ExAC: 1:94467475 C / A
• gnomAD v2: 1-94467475-C-A
• gnomAD v3: 1-94001919-C-A
• gnomAD v4: 1-94001919-C-A
• MyVariant Identifiers: chr1:g.94467475C>A (hg19) ; chr1:g.94001919C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001919C>A , CM000663.2:g.94001919C>A	GRCh38
NC_000001.10:g.94467475C>A , CM000663.1:g.94467475C>A	GRCh37
NC_000001.9:g.94240063C>A	NCBI36
NG_009073.1:g.124231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6221G>T MANE Select	ENSP00000359245.3:p.Gly2074Val
ENST00000370225.3:c.6221G>T	ENSP00000359245.3:p.Gly2074Val
ENST00000465352.1:n.637G>T
ENST00000536513.5:c.2597G>T	ENSP00000439707.2:p.Gly866Val
NM_000350.2:c.6221G>T	NP_000341.2:p.Gly2074Val
NM_000350.3:c.6221G>T MANE Select	NP_000341.2:p.Gly2074Val