Canonical Allele Identifier: CA515262274

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1706911
• ClinVar RCV Id: RCV002285827 ; RCV003164428
• dbSNP Id: rs756956358
• gnomAD v4: 22-50721401-G-A
• MyVariant Identifiers: chr22:g.51159829G>A (hg19) ; chr22:g.50721401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721401G>A , CM000684.2:g.50721401G>A	GRCh38
NC_000022.10:g.51159829G>A , CM000684.1:g.51159829G>A	GRCh37
NC_000022.9:g.49506695G>A	NCBI36
NG_008607.2:g.52047G>A
NG_070230.1:g.57185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3169G>A	ENSP00000489147.2:p.Asp1057Asn
ENST00000414786.7:n.3753G>A
ENST00000445220.7:c.2221G>A	ENSP00000489407.2:p.Asp741Asn
ENST00000664402.2:c.1711G>A	ENSP00000499475.1:p.Asp571Asn
ENST00000673971.2:c.*2167G>A	ENSP00000501192.1:n.*2167G>A
ENST00000445220.6:c.2221G>A	ENSP00000489407.2:p.Asp741Asn
ENST00000262795.6:c.3169G>A	ENSP00000489147.2:p.Asp1057Asn
ENST00000664402.1:c.1711G>A	ENSP00000499475.1:p.Asp571Asn
ENST00000673971.1:c.*2167G>A	ENSP00000501192.1:n.*2167G>A
ENST00000262795.5:c.3565G>A	ENSP00000489147.1:p.Asp1189Asn
ENST00000414786.6:n.3753G>A
ENST00000445220.5:c.3547G>A	ENSP00000489407.1:p.Asp1183Asn