Canonical Allele Identifier: CA515260014

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 451372
• ClinVar RCV Id: RCV000520459
• dbSNP Id: rs779406129
• gnomAD v4: 22-50720691-C-G
• MyVariant Identifiers: chr22:g.51159119C>G (hg19) ; chr22:g.50720691C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720691C>G , CM000684.2:g.50720691C>G	GRCh38
NC_000022.10:g.51159119C>G , CM000684.1:g.51159119C>G	GRCh37
NC_000022.9:g.49505985C>G	NCBI36
NG_008607.2:g.51337C>G
NG_070230.1:g.56475C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2459C>G	ENSP00000489147.2:p.Pro820Arg
ENST00000414786.7:n.3043C>G
ENST00000445220.7:c.1511C>G	ENSP00000489407.2:p.Pro504Arg
ENST00000664402.2:c.1001C>G	ENSP00000499475.1:p.Pro334Arg
ENST00000673971.2:c.*1457C>G	ENSP00000501192.1:n.*1457C>G
ENST00000445220.6:c.1511C>G	ENSP00000489407.2:p.Pro504Arg
ENST00000262795.6:c.2459C>G	ENSP00000489147.2:p.Pro820Arg
ENST00000664402.1:c.1001C>G	ENSP00000499475.1:p.Pro334Arg
ENST00000673971.1:c.*1457C>G	ENSP00000501192.1:n.*1457C>G
ENST00000262795.5:c.2855C>G	ENSP00000489147.1:p.Pro952Arg
ENST00000414786.6:n.3043C>G
ENST00000445220.5:c.2837C>G	ENSP00000489407.1:p.Pro946Arg