Canonical Allele Identifier: CA227338

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99403
• ClinVar RCV Id: RCV000085757 ; RCV000210303 ; RCV000210321 ; RCV000332324 ; RCV000515694 ; RCV000778997 ; RCV001074898 ; RCV000845081 ; RCV001196124 ; RCV002498458
• dbSNP Id: rs61751407
• ExAC: 1:94476351 C / T
• gnomAD v2: 1-94476351-C-T
• gnomAD v3: 1-94010795-C-T
• gnomAD v4: 1-94010795-C-T
• MyVariant Identifiers: chr1:g.94476351C>T (hg19) ; chr1:g.94010795C>T (hg38)
• PubMed: PMID:9466990 ; PMID:10413692 ; PMID:10958763 ; PMID:19074458 ; PMID:23891399 ; PMID:24265693 ; PMID:26872967 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94010795C>T , CM000663.2:g.94010795C>T	GRCh38
NC_000001.10:g.94476351C>T , CM000663.1:g.94476351C>T	GRCh37
NC_000001.9:g.94248939C>T	NCBI36
NG_009073.1:g.115355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5714+5G>A MANE Select	ENSP00000359245.3:n.5714+5G>A
ENST00000370225.3:c.5714+5G>A	ENSP00000359245.3:n.5714+5G>A
ENST00000465352.1:n.130+5G>A
ENST00000536513.5:c.2090+5G>A	ENSP00000439707.2:n.2090+5G>A
NM_000350.2:c.5714+5G>A	NP_000341.2:n.5714+5G>A
NM_000350.3:c.5714+5G>A MANE Select	NP_000341.2:n.5714+5G>A