Canonical Allele Identifier: CA10326170

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 436719
• ClinVar RCV Id: RCV001683531 ; RCV002316447 ; RCV003960181
• dbSNP Id: rs201483867
• ExAC: 22:51160154 G / A
• gnomAD v2: 22-51160154-G-A
• gnomAD v3: 22-50721726-G-A
• gnomAD v4: 22-50721726-G-A
• MyVariant Identifiers: chr22:g.51160154G>A (hg19) ; chr22:g.50721726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721726G>A , CM000684.2:g.50721726G>A	GRCh38
NC_000022.10:g.51160154G>A , CM000684.1:g.51160154G>A	GRCh37
NC_000022.9:g.49507020G>A	NCBI36
NG_008607.2:g.52372G>A
NG_070230.1:g.57510G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3494G>A	ENSP00000489147.2:p.Arg1165Lys
ENST00000414786.7:n.4078G>A
ENST00000445220.7:c.2546G>A	ENSP00000489407.2:p.Arg849Lys
ENST00000664402.2:c.2036G>A	ENSP00000499475.1:p.Arg679Lys
ENST00000673971.2:c.*2492G>A	ENSP00000501192.1:n.*2492G>A
ENST00000445220.6:c.2546G>A	ENSP00000489407.2:p.Arg849Lys
ENST00000262795.6:c.3494G>A	ENSP00000489147.2:p.Arg1165Lys
ENST00000664402.1:c.2036G>A	ENSP00000499475.1:p.Arg679Lys
ENST00000673971.1:c.*2492G>A	ENSP00000501192.1:n.*2492G>A
ENST00000262795.5:c.3890G>A	ENSP00000489147.1:p.Arg1297Lys
ENST00000414786.6:n.4078G>A
ENST00000445220.5:c.3872G>A	ENSP00000489407.1:p.Arg1291Lys