Canonical Allele Identifier: CA119140

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 7907
• ClinVar RCV Id: RCV000008365 ; RCV000085786 ; RCV000504794 ; RCV000505162 ; RCV000763437 ; RCV000787773 ; RCV001542555 ; RCV003447472 ; RCV002512903 ; RCV004528093
• dbSNP Id: rs61751383
• ExAC: 1:94471056 G / A
• gnomAD v2: 1-94471056-G-A
• gnomAD v3: 1-94005500-G-A
• gnomAD v4: 1-94005500-G-A
• COSMIC: COSM2260581 ; COSM5828045
• MyVariant Identifiers: chr1:g.94471056G>A (hg19) ; chr1:g.94005500G>A (hg38)
• PubMed: PMID:9973280 ; PMID:11385708 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94005500G>A , CM000663.2:g.94005500G>A	GRCh38
NC_000001.10:g.94471056G>A , CM000663.1:g.94471056G>A	GRCh37
NC_000001.9:g.94243644G>A	NCBI36
NG_009073.1:g.120650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6088C>T MANE Select	ENSP00000359245.3:p.Arg2030Ter
ENST00000370225.3:c.6088C>T	ENSP00000359245.3:p.Arg2030Ter
ENST00000465352.1:n.504C>T
ENST00000484388.1:n.202C>T
ENST00000536513.5:c.2464C>T	ENSP00000439707.2:p.Arg822Ter
NM_000350.2:c.6088C>T	NP_000341.2:p.Arg2030Ter
NM_000350.3:c.6088C>T MANE Select	NP_000341.2:p.Arg2030Ter