Canonical Allele Identifier: CA515259906

Gene: SHANK3

Linked Data

• dbSNP Id: rs1389132423
• gnomAD v3: 22-50720654-C-G
• gnomAD v4: 22-50720654-C-G
• MyVariant Identifiers: chr22:g.51159082C>G (hg19) ; chr22:g.50720654C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720654C>G , CM000684.2:g.50720654C>G	GRCh38
NC_000022.10:g.51159082C>G , CM000684.1:g.51159082C>G	GRCh37
NC_000022.9:g.49505948C>G	NCBI36
NG_008607.2:g.51300C>G
NG_070230.1:g.56438C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2422C>G	ENSP00000489147.2:p.Leu808Val
ENST00000414786.7:n.3006C>G
ENST00000445220.7:c.1474C>G	ENSP00000489407.2:p.Leu492Val
ENST00000664402.2:c.964C>G	ENSP00000499475.1:p.Leu322Val
ENST00000673971.2:c.*1420C>G	ENSP00000501192.1:n.*1420C>G
ENST00000445220.6:c.1474C>G	ENSP00000489407.2:p.Leu492Val
ENST00000262795.6:c.2422C>G	ENSP00000489147.2:p.Leu808Val
ENST00000664402.1:c.964C>G	ENSP00000499475.1:p.Leu322Val
ENST00000673971.1:c.*1420C>G	ENSP00000501192.1:n.*1420C>G
ENST00000262795.5:c.2818C>G	ENSP00000489147.1:p.Leu940Val
ENST00000414786.6:n.3006C>G
ENST00000445220.5:c.2800C>G	ENSP00000489407.1:p.Leu934Val