Canonical Allele Identifier: CA515266912

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083359654
• gnomAD v3: 22-50730940-C-G
• gnomAD v4: 22-50730940-C-G
• MyVariant Identifiers: chr22:g.51169368C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730940C>G , CM000684.2:g.50730940C>G	GRCh38
NC_000022.10:g.51169368C>G , CM000684.1:g.51169368C>G	GRCh37
NC_000022.9:g.49516234C>G	NCBI36
NG_008607.2:g.61586C>G
NG_070230.1:g.66724C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4452C>G	ENSP00000489147.2:p.Ile1484Met
ENST00000414786.7:n.5036C>G
ENST00000445220.7:c.3504C>G	ENSP00000489407.2:p.Ile1168Met
ENST00000664402.2:c.2994C>G	ENSP00000499475.1:p.Ile998Met
ENST00000673971.2:c.*3450C>G	ENSP00000501192.1:n.*3450C>G
ENST00000445220.6:c.3504C>G	ENSP00000489407.2:p.Ile1168Met
ENST00000262795.6:c.4452C>G	ENSP00000489147.2:p.Ile1484Met
ENST00000659388.1:c.267C>G	ENSP00000499632.1:p.Ile89Met
ENST00000664402.1:c.2994C>G	ENSP00000499475.1:p.Ile998Met
ENST00000673971.1:c.*3450C>G	ENSP00000501192.1:n.*3450C>G
ENST00000262795.5:c.4821C>G	ENSP00000489147.1:p.Ile1607Met
ENST00000414786.6:n.5036C>G
ENST00000445220.5:c.4803C>G	ENSP00000489407.1:p.Ile1601Met