Canonical Allele Identifier: CA227401

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99457
• ClinVar RCV Id: RCV000085817 ; RCV001074273 ; RCV004526616
• dbSNP Id: rs61750652
• gnomAD v2: 1-94466480-C-T
• gnomAD v3: 1-94000924-C-T
• gnomAD v4: 1-94000924-C-T
• COSMIC: COSM4555001
• MyVariant Identifiers: chr1:g.94466480C>T (hg19) ; chr1:g.94000924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94000924C>T , CM000663.2:g.94000924C>T	GRCh38
NC_000001.10:g.94466480C>T , CM000663.1:g.94466480C>T	GRCh37
NC_000001.9:g.94239068C>T	NCBI36
NG_009073.1:g.125226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6391G>A MANE Select	ENSP00000359245.3:p.Glu2131Lys
ENST00000370225.3:c.6391G>A	ENSP00000359245.3:p.Glu2131Lys
ENST00000536513.5:c.2767G>A	ENSP00000439707.2:p.Glu923Lys
NM_000350.2:c.6391G>A	NP_000341.2:p.Glu2131Lys
NM_000350.3:c.6391G>A MANE Select	NP_000341.2:p.Glu2131Lys