Canonical Allele Identifier: CA957094
Gene: ABCA4 HGNC NCBI
ClinVar RCV:
RCV000408510
RCV000778996
RCV001229952
ClinVar Variation:
236140
COSMIC:
COSM3493453
dbSNP:
142253670
gnomAD v2:
1:94473808 C / T
gnomAD v3:
1:94008252 C / T
gnomAD v4:
chr1-94008252-C-T
Joint Max Group AF 0.00010397 (EAS)
Genomes Max Group AF 0.00026344 (EAS)
Exomes Max Group AF 0.00006784 (NFE)
MyVariant.info:
GRCh38 chr1:g.94008252C>T
GRCh37 chr1:g.94473808C>T
Revel Score:
ENST00000546054 0.784
ENST00000370225 (MANE Select) 0.784
ENST00000536513 0.784
ENST00000535881 0.784
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008252C>T , CM000663.2:g.94008252C>T GRCh38
NC_000001.10:g.94473808C>T , CM000663.1:g.94473808C>T GRCh37
NC_000001.9:g.94246396C>T NCBI36
NG_009073.1:g.117898G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5881G>A MANE Select ENSP00000359245.3:p.Gly1961Arg
ENST00000370225.3:c.5881G>A ENSP00000359245.3:p.Gly1961Arg
ENST00000465352.1:n.297G>A
ENST00000536513.5:c.2257G>A ENSP00000439707.2:p.Gly753Arg
NM_000350.2:c.5881G>A NP_000341.2:p.Gly1961Arg
NM_000350.3:c.5881G>A MANE Select NP_000341.2:p.Gly1961Arg
Search 100 bp 5'
Search 100 bp 3'