Canonical Allele Identifier: CA515259959

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3161546
• ClinVar RCV Id: RCV004450892
• dbSNP Id: rs1393193609
• gnomAD v2: 22-51159100-C-G
• gnomAD v4: 22-50720672-C-G
• MyVariant Identifiers: chr22:g.51159100C>G (hg19) ; chr22:g.50720672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720672C>G , CM000684.2:g.50720672C>G	GRCh38
NC_000022.10:g.51159100C>G , CM000684.1:g.51159100C>G	GRCh37
NC_000022.9:g.49505966C>G	NCBI36
NG_008607.2:g.51318C>G
NG_070230.1:g.56456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2440C>G	ENSP00000489147.2:p.Pro814Ala
ENST00000414786.7:n.3024C>G
ENST00000445220.7:c.1492C>G	ENSP00000489407.2:p.Pro498Ala
ENST00000664402.2:c.982C>G	ENSP00000499475.1:p.Pro328Ala
ENST00000673971.2:c.*1438C>G	ENSP00000501192.1:n.*1438C>G
ENST00000445220.6:c.1492C>G	ENSP00000489407.2:p.Pro498Ala
ENST00000262795.6:c.2440C>G	ENSP00000489147.2:p.Pro814Ala
ENST00000664402.1:c.982C>G	ENSP00000499475.1:p.Pro328Ala
ENST00000673971.1:c.*1438C>G	ENSP00000501192.1:n.*1438C>G
ENST00000262795.5:c.2836C>G	ENSP00000489147.1:p.Pro946Ala
ENST00000414786.6:n.3024C>G
ENST00000445220.5:c.2818C>G	ENSP00000489407.1:p.Pro940Ala