Canonical Allele Identifier: CA16621137
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 423611
ClinVar RCV Id: RCV000485099
dbSNP Id: rs1064796528
gnomAD v4: 22-50706117-G-A
MyVariant Identifiers: chr22:g.51144545G>A (hg19) chr22:g.50706117G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50706117G>A , CM000684.2:g.50706117G>A GRCh38
NC_000022.10:g.51144545G>A , CM000684.1:g.51144545G>A GRCh37
NC_000022.9:g.49491411G>A NCBI36
NG_008607.2:g.36763G>A
NG_070230.1:g.41983G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.1676G>A ENSP00000489147.2:p.Arg559His
ENST00000414786.7:n.2260G>A
ENST00000445220.7:c.728G>A ENSP00000489407.2:p.Arg243His
ENST00000664402.2:c.218G>A ENSP00000499475.1:p.Arg73His
ENST00000673971.2:c.*674G>A ENSP00000501192.1:n.*674G>A
ENST00000445220.6:c.728G>A ENSP00000489407.2:p.Arg243His
ENST00000262795.6:c.1676G>A ENSP00000489147.2:p.Arg559His
ENST00000664402.1:c.218G>A ENSP00000499475.1:p.Arg73His
ENST00000673971.1:c.*674G>A ENSP00000501192.1:n.*674G>A
ENST00000262795.5:c.2072G>A ENSP00000489147.1:p.Arg691His
ENST00000414786.6:n.2260G>A
ENST00000445220.5:c.2054G>A ENSP00000489407.1:p.Arg685His
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