Canonical Allele Identifier: CA10326097

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2672918
• ClinVar RCV Id: RCV003457363
• dbSNP Id: rs748600753
• ExAC: 22:51159916 C / G
• gnomAD v2: 22-51159916-C-G
• gnomAD v3: 22-50721488-C-G
• gnomAD v4: 22-50721488-C-G
• MyVariant Identifiers: chr22:g.51159916C>G (hg19) ; chr22:g.50721488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721488C>G , CM000684.2:g.50721488C>G	GRCh38
NC_000022.10:g.51159916C>G , CM000684.1:g.51159916C>G	GRCh37
NC_000022.9:g.49506782C>G	NCBI36
NG_008607.2:g.52134C>G
NG_070230.1:g.57272C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3256C>G	ENSP00000489147.2:p.Gln1086Glu
ENST00000414786.7:n.3840C>G
ENST00000445220.7:c.2308C>G	ENSP00000489407.2:p.Gln770Glu
ENST00000664402.2:c.1798C>G	ENSP00000499475.1:p.Gln600Glu
ENST00000673971.2:c.*2254C>G	ENSP00000501192.1:n.*2254C>G
ENST00000445220.6:c.2308C>G	ENSP00000489407.2:p.Gln770Glu
ENST00000262795.6:c.3256C>G	ENSP00000489147.2:p.Gln1086Glu
ENST00000664402.1:c.1798C>G	ENSP00000499475.1:p.Gln600Glu
ENST00000673971.1:c.*2254C>G	ENSP00000501192.1:n.*2254C>G
ENST00000262795.5:c.3652C>G	ENSP00000489147.1:p.Gln1218Glu
ENST00000414786.6:n.3840C>G
ENST00000445220.5:c.3634C>G	ENSP00000489407.1:p.Gln1212Glu