Canonical Allele Identifier: CA10326121

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3161547
• ClinVar RCV Id: RCV004450893
• dbSNP Id: rs779004678
• ExAC: 22:51160006 G / A
• gnomAD v2: 22-51160006-G-A
• gnomAD v3: 22-50721578-G-A
• gnomAD v4: 22-50721578-G-A
• MyVariant Identifiers: chr22:g.51160006G>A (hg19) ; chr22:g.50721578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721578G>A , CM000684.2:g.50721578G>A	GRCh38
NC_000022.10:g.51160006G>A , CM000684.1:g.51160006G>A	GRCh37
NC_000022.9:g.49506872G>A	NCBI36
NG_008607.2:g.52224G>A
NG_070230.1:g.57362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3346G>A	ENSP00000489147.2:p.Glu1116Lys
ENST00000414786.7:n.3930G>A
ENST00000445220.7:c.2398G>A	ENSP00000489407.2:p.Glu800Lys
ENST00000664402.2:c.1888G>A	ENSP00000499475.1:p.Glu630Lys
ENST00000673971.2:c.*2344G>A	ENSP00000501192.1:n.*2344G>A
ENST00000445220.6:c.2398G>A	ENSP00000489407.2:p.Glu800Lys
ENST00000262795.6:c.3346G>A	ENSP00000489147.2:p.Glu1116Lys
ENST00000664402.1:c.1888G>A	ENSP00000499475.1:p.Glu630Lys
ENST00000673971.1:c.*2344G>A	ENSP00000501192.1:n.*2344G>A
ENST00000262795.5:c.3742G>A	ENSP00000489147.1:p.Glu1248Lys
ENST00000414786.6:n.3930G>A
ENST00000445220.5:c.3724G>A	ENSP00000489407.1:p.Glu1242Lys