Canonical Allele Identifier: CA227386
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94001102C>T
GRCh37 chr1:g.94466658C>T
Revel Score:
ENST00000546054 0.956
ENST00000370225 (MANE Select) 0.956
ENST00000536513 0.956
ENST00000535881 0.956
gnomAD v2:
1:94466658 C / T
gnomAD v3:
1:94001102 C / T
gnomAD v4:
chr1-94001102-C-T
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00000576 (NFE)
ClinVar Allele:
105334
ClinVar RCV:
RCV000085804
ClinVar Variation:
99445
dbSNP:
61750646
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001102C>T , CM000663.2:g.94001102C>T GRCh38
NC_000001.10:g.94466658C>T , CM000663.1:g.94466658C>T GRCh37
NC_000001.9:g.94239246C>T NCBI36
NG_009073.1:g.125048G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6286G>A MANE Select ENSP00000359245.3:p.Glu2096Lys
ENST00000370225.3:c.6286G>A ENSP00000359245.3:p.Glu2096Lys
ENST00000536513.5:c.2662G>A ENSP00000439707.2:p.Glu888Lys
NM_000350.2:c.6286G>A NP_000341.2:p.Glu2096Lys
NM_000350.3:c.6286G>A MANE Select NP_000341.2:p.Glu2096Lys
Search 100 bp 5'
Search 100 bp 3'