Canonical Allele Identifier: CA16044110
Gene: ABCA4 HGNC NCBI
ClinVar RCV:
RCV000432926
RCV001074499
ClinVar Variation:
377409
COSMIC:
COSM5847504
COSM5847505
dbSNP:
1057520213
gnomAD v2:
1:94466627 C / T
gnomAD v3:
1:94001071 C / T
gnomAD v4:
chr1-94001071-C-T
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
MyVariant.info:
GRCh38 chr1:g.94001071C>T
GRCh37 chr1:g.94466627C>T
Revel Score:
ENST00000546054 0.950
ENST00000370225 (MANE Select) 0.950
ENST00000536513 0.950
ENST00000535881 0.950
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001071C>T , CM000663.2:g.94001071C>T GRCh38
NC_000001.10:g.94466627C>T , CM000663.1:g.94466627C>T GRCh37
NC_000001.9:g.94239215C>T NCBI36
NG_009073.1:g.125079G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6317G>A MANE Select ENSP00000359245.3:p.Arg2106His
ENST00000370225.3:c.6317G>A ENSP00000359245.3:p.Arg2106His
ENST00000536513.5:c.2693G>A ENSP00000439707.2:p.Arg898His
NM_000350.2:c.6317G>A NP_000341.2:p.Arg2106His
NM_000350.3:c.6317G>A MANE Select NP_000341.2:p.Arg2106His
Search 100 bp 5'
Search 100 bp 3'