Canonical Allele Identifier: CA515263763

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2554181
• ClinVar RCV Id: RCV003304115
• dbSNP Id: rs1322600093
• gnomAD v2: 22-51160301-C-G
• gnomAD v4: 22-50721873-C-G
• MyVariant Identifiers: chr22:g.51160301C>G (hg19) ; chr22:g.50721873C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721873C>G , CM000684.2:g.50721873C>G	GRCh38
NC_000022.10:g.51160301C>G , CM000684.1:g.51160301C>G	GRCh37
NC_000022.9:g.49507167C>G	NCBI36
NG_008607.2:g.52519C>G
NG_070230.1:g.57657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3641C>G	ENSP00000489147.2:p.Pro1214Arg
ENST00000414786.7:n.4225C>G
ENST00000445220.7:c.2693C>G	ENSP00000489407.2:p.Pro898Arg
ENST00000664402.2:c.2183C>G	ENSP00000499475.1:p.Pro728Arg
ENST00000673971.2:c.*2639C>G	ENSP00000501192.1:n.*2639C>G
ENST00000445220.6:c.2693C>G	ENSP00000489407.2:p.Pro898Arg
ENST00000262795.6:c.3641C>G	ENSP00000489147.2:p.Pro1214Arg
ENST00000664402.1:c.2183C>G	ENSP00000499475.1:p.Pro728Arg
ENST00000673971.1:c.*2639C>G	ENSP00000501192.1:n.*2639C>G
ENST00000262795.5:c.4037C>G	ENSP00000489147.1:p.Pro1346Arg
ENST00000414786.6:n.4225C>G
ENST00000445220.5:c.4019C>G	ENSP00000489407.1:p.Pro1340Arg