Canonical Allele Identifier: CA515264987

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2230108
• ClinVar RCV Id: RCV002717448
• dbSNP Id: rs1355926364
• gnomAD v2: 22-51160702-C-T
• gnomAD v4: 22-50722274-C-T
• MyVariant Identifiers: chr22:g.51160702C>T (hg19) ; chr22:g.50722274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722274C>T , CM000684.2:g.50722274C>T	GRCh38
NC_000022.10:g.51160702C>T , CM000684.1:g.51160702C>T	GRCh37
NC_000022.9:g.49507568C>T	NCBI36
NG_008607.2:g.52920C>T
NG_070230.1:g.58058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4042C>T	ENSP00000489147.2:p.Arg1348Trp
ENST00000414786.7:n.4626C>T
ENST00000445220.7:c.3094C>T	ENSP00000489407.2:p.Arg1032Trp
ENST00000664402.2:c.2584C>T	ENSP00000499475.1:p.Arg862Trp
ENST00000673971.2:c.*3040C>T	ENSP00000501192.1:n.*3040C>T
ENST00000445220.6:c.3094C>T	ENSP00000489407.2:p.Arg1032Trp
ENST00000262795.6:c.4042C>T	ENSP00000489147.2:p.Arg1348Trp
ENST00000664402.1:c.2584C>T	ENSP00000499475.1:p.Arg862Trp
ENST00000673971.1:c.*3040C>T	ENSP00000501192.1:n.*3040C>T
ENST00000262795.5:c.4438C>T	ENSP00000489147.1:p.Arg1480Trp
ENST00000414786.6:n.4626C>T
ENST00000445220.5:c.4420C>T	ENSP00000489407.1:p.Arg1474Trp