Canonical Allele Identifier: CA119140
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7907
ClinVar RCV Id: RCV000008365 RCV000085786 RCV000504794 RCV000505162 RCV000763437 RCV000787773 RCV001542555 RCV002512903 RCV003398469 RCV003447472
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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'