Canonical Allele Identifier: CA227449
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94113062C>T
GRCh37 chr1:g.94578618C>T
Revel Score:
ENST00000370225 (MANE Select) 0.811
ENST00000535735 0.811
gnomAD v2:
1:94578618 C / T
gnomAD v3:
1:94113062 C / T
gnomAD v4:
chr1-94113062-C-T
Joint Max Group AF 0.00046148 (EAS)
Genomes Max Group AF 0.00063468 (EAS)
Exomes Max Group AF 0.00037507 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94113062C>T , CM000663.2:g.94113062C>T GRCh38
NC_000001.10:g.94578618C>T , CM000663.1:g.94578618C>T GRCh37
NC_000001.9:g.94351206C>T NCBI36
NG_009073.1:g.13088G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.71G>A MANE Select ENSP00000359245.3:p.Arg24His
ENST00000649773.1:c.71G>A ENSP00000496882.1:p.Arg24His
ENST00000370225.3:c.71G>A ENSP00000359245.3:p.Arg24His
NM_000350.2:c.71G>A NP_000341.2:p.Arg24His
NM_000350.3:c.71G>A MANE Select NP_000341.2:p.Arg24His
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