Canonical Allele Identifier: CA515260718

Gene: SHANK3

Linked Data

• dbSNP Id: rs1227303807
• gnomAD v2: 22-51159366-C-G
• gnomAD v4: 22-50720938-C-G
• MyVariant Identifiers: chr22:g.51159366C>G (hg19) ; chr22:g.50720938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720938C>G , CM000684.2:g.50720938C>G	GRCh38
NC_000022.10:g.51159366C>G , CM000684.1:g.51159366C>G	GRCh37
NC_000022.9:g.49506232C>G	NCBI36
NG_008607.2:g.51584C>G
NG_070230.1:g.56722C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2706C>G	ENSP00000489147.2:p.Ile902Met
ENST00000414786.7:n.3290C>G
ENST00000445220.7:c.1758C>G	ENSP00000489407.2:p.Ile586Met
ENST00000664402.2:c.1248C>G	ENSP00000499475.1:p.Ile416Met
ENST00000673971.2:c.*1704C>G	ENSP00000501192.1:n.*1704C>G
ENST00000445220.6:c.1758C>G	ENSP00000489407.2:p.Ile586Met
ENST00000262795.6:c.2706C>G	ENSP00000489147.2:p.Ile902Met
ENST00000664402.1:c.1248C>G	ENSP00000499475.1:p.Ile416Met
ENST00000673971.1:c.*1704C>G	ENSP00000501192.1:n.*1704C>G
ENST00000262795.5:c.3102C>G	ENSP00000489147.1:p.Ile1034Met
ENST00000414786.6:n.3290C>G
ENST00000445220.5:c.3084C>G	ENSP00000489407.1:p.Ile1028Met