Canonical Allele Identifier: CA10326062

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1175427
• ClinVar RCV Id: RCV001530585 ; RCV002458510 ; RCV004541983
• dbSNP Id: rs200188413
• ExAC: 22:51159802 C / A
• gnomAD v2: 22-51159802-C-A
• gnomAD v3: 22-50721374-C-A
• gnomAD v4: 22-50721374-C-A
• MyVariant Identifiers: chr22:g.51159802C>A (hg19) ; chr22:g.50721374C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721374C>A , CM000684.2:g.50721374C>A	GRCh38
NC_000022.10:g.51159802C>A , CM000684.1:g.51159802C>A	GRCh37
NC_000022.9:g.49506668C>A	NCBI36
NG_008607.2:g.52020C>A
NG_070230.1:g.57158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3142C>A	ENSP00000489147.2:p.Pro1048Thr
ENST00000414786.7:n.3726C>A
ENST00000445220.7:c.2194C>A	ENSP00000489407.2:p.Pro732Thr
ENST00000664402.2:c.1684C>A	ENSP00000499475.1:p.Pro562Thr
ENST00000673971.2:c.*2140C>A	ENSP00000501192.1:n.*2140C>A
ENST00000445220.6:c.2194C>A	ENSP00000489407.2:p.Pro732Thr
ENST00000262795.6:c.3142C>A	ENSP00000489147.2:p.Pro1048Thr
ENST00000664402.1:c.1684C>A	ENSP00000499475.1:p.Pro562Thr
ENST00000673971.1:c.*2140C>A	ENSP00000501192.1:n.*2140C>A
ENST00000262795.5:c.3538C>A	ENSP00000489147.1:p.Pro1180Thr
ENST00000414786.6:n.3726C>A
ENST00000445220.5:c.3520C>A	ENSP00000489407.1:p.Pro1174Thr