Canonical Allele Identifier: CA227333

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99398
• ClinVar RCV Id: RCV000085752 ; RCV000408593 ; RCV000623966 ; RCV000778998 ; RCV000787764 ; RCV000787513 ; RCV001075015 ; RCV001196150 ; RCV002470766
• dbSNP Id: rs1800552
• ExAC: 1:94476377 C / T
• gnomAD v2: 1-94476377-C-T
• gnomAD v3: 1-94010821-C-T
• gnomAD v4: 1-94010821-C-T
• MyVariant Identifiers: chr1:g.94476377C>T (hg19) ; chr1:g.94010821C>T (hg38)
• PubMed: PMID:8002831 ; PMID:9054934 ; PMID:9295268 ; PMID:9781034 ; PMID:9973280 ; PMID:10090887 ; PMID:11017087 ; PMID:11919200 ; PMID:12037008 ; PMID:12796258 ; PMID:14709597 ; PMID:15579991 ; PMID:16546111 ; PMID:18977788 ; PMID:19074458 ; PMID:19217903 ; PMID:19230850 ; PMID:22449572 ; PMID:23953153 ; PMID:25087612 ; PMID:27491360 ; PMID:28118664 ; PMID:28446513

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94010821C>T , CM000663.2:g.94010821C>T	GRCh38
NC_000001.10:g.94476377C>T , CM000663.1:g.94476377C>T	GRCh37
NC_000001.9:g.94248965C>T	NCBI36
NG_009073.1:g.115329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5693G>A MANE Select	ENSP00000359245.3:p.Arg1898His
ENST00000370225.3:c.5693G>A	ENSP00000359245.3:p.Arg1898His
ENST00000465352.1:n.109G>A
ENST00000536513.5:c.2069G>A	ENSP00000439707.2:p.Arg690His
NM_000350.2:c.5693G>A	NP_000341.2:p.Arg1898His
NM_000350.3:c.5693G>A MANE Select	NP_000341.2:p.Arg1898His