Canonical Allele Identifier: CA16043165

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 373766
• ClinVar RCV Id: RCV000412919 ; RCV001823001
• dbSNP Id: rs1001153999
• gnomAD v4: 22-50720446-C-G
• MyVariant Identifiers: chr22:g.51158874C>G (hg19) ; chr22:g.50720446C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720446C>G , CM000684.2:g.50720446C>G	GRCh38
NC_000022.10:g.51158874C>G , CM000684.1:g.51158874C>G	GRCh37
NC_000022.9:g.49505740C>G	NCBI36
NG_008607.2:g.51092C>G
NG_070230.1:g.56230C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2214C>G	ENSP00000489147.2:p.Tyr738Ter
ENST00000414786.7:n.2798C>G
ENST00000445220.7:c.1266C>G	ENSP00000489407.2:p.Tyr422Ter
ENST00000664402.2:c.756C>G	ENSP00000499475.1:p.Tyr252Ter
ENST00000673971.2:c.*1212C>G	ENSP00000501192.1:n.*1212C>G
ENST00000445220.6:c.1266C>G	ENSP00000489407.2:p.Tyr422Ter
ENST00000262795.6:c.2214C>G	ENSP00000489147.2:p.Tyr738Ter
ENST00000664402.1:c.756C>G	ENSP00000499475.1:p.Tyr252Ter
ENST00000673971.1:c.*1212C>G	ENSP00000501192.1:n.*1212C>G
ENST00000262795.5:c.2610C>G	ENSP00000489147.1:p.Tyr870Ter
ENST00000414786.6:n.2798C>G
ENST00000445220.5:c.2592C>G	ENSP00000489407.1:p.Tyr864Ter