Canonical Allele Identifier: CA515255587
Gene: SHANK3 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50698797C>G
GRCh37 chr22:g.51137225C>G
Revel Score:
ENST00000262795 0.187
ENST00000445220 0.187
gnomAD v2:
22:51137225 C / G
gnomAD v3:
22:50698797 C / G
gnomAD v4:
chr22-50698797-C-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50698797C>G , CM000684.2:g.50698797C>G GRCh38
NC_000022.10:g.51137225C>G , CM000684.1:g.51137225C>G GRCh37
NC_000022.9:g.49484091C>G NCBI36
NG_008607.2:g.29443C>G
NG_070230.1:g.34661C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1207C>G ENSP00000489147.2:p.Arg403Gly
ENST00000414786.7:n.1791C>G
ENST00000445220.7:c.259C>G ENSP00000489407.2:p.Arg87Gly
ENST00000673971.2:c.1564C>G ENSP00000501192.1:p.Arg522Gly
ENST00000445220.6:c.259C>G ENSP00000489407.2:p.Arg87Gly
ENST00000262795.6:c.1207C>G ENSP00000489147.2:p.Arg403Gly
ENST00000673838.1:n.232C>G
ENST00000673971.1:c.1564C>G ENSP00000501192.1:p.Arg522Gly
ENST00000673995.1:c.459C>G
ENST00000674010.1:n.452C>G
ENST00000674145.1:n.799C>G
ENST00000262795.5:c.1603C>G ENSP00000489147.1:p.Arg535Gly
ENST00000414786.6:n.1791C>G
ENST00000445220.5:c.1585C>G ENSP00000489407.1:p.Arg529Gly
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