Canonical Allele Identifier: CA10326282

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 871610
• ClinVar RCV Id: RCV001091674
• dbSNP Id: rs530777182
• ExAC: 22:51160693 G / A
• gnomAD v2: 22-51160693-G-A
• gnomAD v3: 22-50722265-G-A
• gnomAD v4: 22-50722265-G-A
• MyVariant Identifiers: chr22:g.51160693G>A (hg19) ; chr22:g.50722265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722265G>A , CM000684.2:g.50722265G>A	GRCh38
NC_000022.10:g.51160693G>A , CM000684.1:g.51160693G>A	GRCh37
NC_000022.9:g.49507559G>A	NCBI36
NG_008607.2:g.52911G>A
NG_070230.1:g.58049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4033G>A	ENSP00000489147.2:p.Val1345Met
ENST00000414786.7:n.4617G>A
ENST00000445220.7:c.3085G>A	ENSP00000489407.2:p.Val1029Met
ENST00000664402.2:c.2575G>A	ENSP00000499475.1:p.Val859Met
ENST00000673971.2:c.*3031G>A	ENSP00000501192.1:n.*3031G>A
ENST00000445220.6:c.3085G>A	ENSP00000489407.2:p.Val1029Met
ENST00000262795.6:c.4033G>A	ENSP00000489147.2:p.Val1345Met
ENST00000664402.1:c.2575G>A	ENSP00000499475.1:p.Val859Met
ENST00000673971.1:c.*3031G>A	ENSP00000501192.1:n.*3031G>A
ENST00000262795.5:c.4429G>A	ENSP00000489147.1:p.Val1477Met
ENST00000414786.6:n.4617G>A
ENST00000445220.5:c.4411G>A	ENSP00000489407.1:p.Val1471Met