Canonical Allele Identifier: CA515260141

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1695680
• ClinVar RCV Id: RCV002265315
• dbSNP Id: rs2146829940
• gnomAD v4: 22-50720736-C-A
• MyVariant Identifiers: chr22:g.51159164C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720736C>A , CM000684.2:g.50720736C>A	GRCh38
NC_000022.10:g.51159164C>A , CM000684.1:g.51159164C>A	GRCh37
NC_000022.9:g.49506030C>A	NCBI36
NG_008607.2:g.51382C>A
NG_070230.1:g.56520C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2504C>A	ENSP00000489147.2:p.Ala835Asp
ENST00000414786.7:n.3088C>A
ENST00000445220.7:c.1556C>A	ENSP00000489407.2:p.Ala519Asp
ENST00000664402.2:c.1046C>A	ENSP00000499475.1:p.Ala349Asp
ENST00000673971.2:c.*1502C>A	ENSP00000501192.1:n.*1502C>A
ENST00000445220.6:c.1556C>A	ENSP00000489407.2:p.Ala519Asp
ENST00000262795.6:c.2504C>A	ENSP00000489147.2:p.Ala835Asp
ENST00000664402.1:c.1046C>A	ENSP00000499475.1:p.Ala349Asp
ENST00000673971.1:c.*1502C>A	ENSP00000501192.1:n.*1502C>A
ENST00000262795.5:c.2900C>A	ENSP00000489147.1:p.Ala967Asp
ENST00000414786.6:n.3088C>A
ENST00000445220.5:c.2882C>A	ENSP00000489407.1:p.Ala961Asp