Canonical Allele Identifier: CA119132
Gene: ABCA4 HGNC NCBI
COSMIC:
COSM4988772 (not active)
MyVariant.info:
GRCh38 chr1:g.94008251C>T
GRCh37 chr1:g.94473807C>T
Revel Score:
ENST00000546054 0.760
ENST00000370225 (MANE Select) 0.760
ENST00000536513 0.760
ENST00000535881 0.760
gnomAD v2:
1:94473807 C / T
gnomAD v3:
1:94008251 C / T
gnomAD v4:
chr1-94008251-C-T
Joint Max Group AF 0.01768279 (MID)
Genomes Max Group AF 0.01012583 (SAS)
Exomes Max Group AF 0.01746159 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008251C>T , CM000663.2:g.94008251C>T GRCh38
NC_000001.10:g.94473807C>T , CM000663.1:g.94473807C>T GRCh37
NC_000001.9:g.94246395C>T NCBI36
NG_009073.1:g.117899G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5882G>A MANE Select ENSP00000359245.3:p.Gly1961Glu
ENST00000370225.3:c.5882G>A ENSP00000359245.3:p.Gly1961Glu
ENST00000465352.1:n.298G>A
ENST00000536513.5:c.2258G>A ENSP00000439707.2:p.Gly753Glu
NM_000350.2:c.5882G>A NP_000341.2:p.Gly1961Glu
NM_000350.3:c.5882G>A MANE Select NP_000341.2:p.Gly1961Glu
Search 100 bp 5'
Search 100 bp 3'