Canonical Allele Identifier: CA227198

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99288
• ClinVar RCV Id: RCV000085641 ; RCV000177442 ; RCV000210300 ; RCV000779003 ; RCV000787763 ; RCV002287365 ; RCV001542643
• dbSNP Id: rs61751402
• ExAC: 1:94495071 C / T
• gnomAD v2: 1-94495071-C-T
• gnomAD v3: 1-94029515-C-T
• gnomAD v4: 1-94029515-C-T
• MyVariant Identifiers: chr1:g.94495071C>T (hg19) ; chr1:g.94029515C>T (hg38)
• PubMed: PMID:9973280 ; PMID:11017087 ; PMID:16103129 ; PMID:23695285 ; PMID:23891399 ; PMID:24713488 ; PMID:25082885 ; PMID:25097241 ; PMID:25472526 ; PMID:26872967 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029515C>T , CM000663.2:g.94029515C>T	GRCh38
NC_000001.10:g.94495071C>T , CM000663.1:g.94495071C>T	GRCh37
NC_000001.9:g.94267659C>T	NCBI36
NG_009073.1:g.96635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4469G>A MANE Select	ENSP00000359245.3:p.Cys1490Tyr
ENST00000370225.3:c.4469G>A	ENSP00000359245.3:p.Cys1490Tyr
ENST00000536513.5:c.845G>A	ENSP00000439707.2:p.Cys282Tyr
NM_000350.2:c.4469G>A	NP_000341.2:p.Cys1490Tyr
NM_000350.3:c.4469G>A MANE Select	NP_000341.2:p.Cys1490Tyr