Canonical Allele Identifier: CA515263595

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1336998
• ClinVar RCV Id: RCV001819484 ; RCV004542126
• dbSNP Id: rs1464985103
• gnomAD v2: 22-51160247-C-T
• gnomAD v3: 22-50721819-C-T
• gnomAD v4: 22-50721819-C-T
• MyVariant Identifiers: chr22:g.51160247C>T (hg19) ; chr22:g.50721819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721819C>T , CM000684.2:g.50721819C>T	GRCh38
NC_000022.10:g.51160247C>T , CM000684.1:g.51160247C>T	GRCh37
NC_000022.9:g.49507113C>T	NCBI36
NG_008607.2:g.52465C>T
NG_070230.1:g.57603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3587C>T	ENSP00000489147.2:p.Ser1196Leu
ENST00000414786.7:n.4171C>T
ENST00000445220.7:c.2639C>T	ENSP00000489407.2:p.Ser880Leu
ENST00000664402.2:c.2129C>T	ENSP00000499475.1:p.Ser710Leu
ENST00000673971.2:c.*2585C>T	ENSP00000501192.1:n.*2585C>T
ENST00000445220.6:c.2639C>T	ENSP00000489407.2:p.Ser880Leu
ENST00000262795.6:c.3587C>T	ENSP00000489147.2:p.Ser1196Leu
ENST00000664402.1:c.2129C>T	ENSP00000499475.1:p.Ser710Leu
ENST00000673971.1:c.*2585C>T	ENSP00000501192.1:n.*2585C>T
ENST00000262795.5:c.3983C>T	ENSP00000489147.1:p.Ser1328Leu
ENST00000414786.6:n.4171C>T
ENST00000445220.5:c.3965C>T	ENSP00000489407.1:p.Ser1322Leu