Canonical Allele Identifier: CA227366
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94005499C>T
GRCh37 chr1:g.94471055C>T
Revel Score:
ENST00000546054 0.856
ENST00000370225 (MANE Select) 0.856
ENST00000536513 0.856
ENST00000535881 0.856
gnomAD v2:
1:94471055 C / T
gnomAD v3:
1:94005499 C / T
gnomAD v4:
chr1-94005499-C-T
Joint Max Group AF 0.00055072 (NFE)
Genomes Max Group AF 0.00066407 (NFE)
Exomes Max Group AF 0.00053496 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94005499C>T , CM000663.2:g.94005499C>T GRCh38
NC_000001.10:g.94471055C>T , CM000663.1:g.94471055C>T GRCh37
NC_000001.9:g.94243643C>T NCBI36
NG_009073.1:g.120651G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6089G>A MANE Select ENSP00000359245.3:p.Arg2030Gln
ENST00000370225.3:c.6089G>A ENSP00000359245.3:p.Arg2030Gln
ENST00000465352.1:n.505G>A
ENST00000484388.1:n.203G>A
ENST00000536513.5:c.2465G>A ENSP00000439707.2:p.Arg822Gln
NM_000350.2:c.6089G>A NP_000341.2:p.Arg2030Gln
NM_000350.3:c.6089G>A MANE Select NP_000341.2:p.Arg2030Gln
Search 100 bp 5'
Search 100 bp 3'