Canonical Allele Identifier: CA227000
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94055245C>T
GRCh37 chr1:g.94520801C>T
Revel Score:
ENST00000370225 (MANE Select) 0.937
ENST00000535735 0.937
gnomAD v2:
1:94520801 C / T
gnomAD v3:
1:94055245 C / T
gnomAD v4:
chr1-94055245-C-T
Joint Max Group AF 0.00087165 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00112912 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94055245C>T , CM000663.2:g.94055245C>T GRCh38
NC_000001.10:g.94520801C>T , CM000663.1:g.94520801C>T GRCh37
NC_000001.9:g.94293389C>T NCBI36
NG_009073.1:g.70905G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2453G>A MANE Select ENSP00000359245.3:p.Gly818Glu
ENST00000649773.1:c.2231G>A ENSP00000496882.1:p.Gly744Glu
ENST00000370225.3:c.2453G>A ENSP00000359245.3:p.Gly818Glu
ENST00000536513.5:c.-65+7929G>A ENSP00000439707.2:n.-65+7929G>A
NM_000350.2:c.2453G>A NP_000341.2:p.Gly818Glu
NM_000350.3:c.2453G>A MANE Select NP_000341.2:p.Gly818Glu
Search 100 bp 5'
Search 100 bp 3'