Canonical Allele Identifier: CA515260971

Gene: SHANK3

Linked Data

• dbSNP Id: rs1220988227
• gnomAD v2: 22-51159460-G-A
• gnomAD v4: 22-50721032-G-A
• COSMIC: COSM3555851 ; COSM3555852
• MyVariant Identifiers: chr22:g.51159460G>A (hg19) ; chr22:g.50721032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721032G>A , CM000684.2:g.50721032G>A	GRCh38
NC_000022.10:g.51159460G>A , CM000684.1:g.51159460G>A	GRCh37
NC_000022.9:g.49506326G>A	NCBI36
NG_008607.2:g.51678G>A
NG_070230.1:g.56816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2800G>A	ENSP00000489147.2:p.Asp934Asn
ENST00000414786.7:n.3384G>A
ENST00000445220.7:c.1852G>A	ENSP00000489407.2:p.Asp618Asn
ENST00000664402.2:c.1342G>A	ENSP00000499475.1:p.Asp448Asn
ENST00000673971.2:c.*1798G>A	ENSP00000501192.1:n.*1798G>A
ENST00000445220.6:c.1852G>A	ENSP00000489407.2:p.Asp618Asn
ENST00000262795.6:c.2800G>A	ENSP00000489147.2:p.Asp934Asn
ENST00000664402.1:c.1342G>A	ENSP00000499475.1:p.Asp448Asn
ENST00000673971.1:c.*1798G>A	ENSP00000501192.1:n.*1798G>A
ENST00000262795.5:c.3196G>A	ENSP00000489147.1:p.Asp1066Asn
ENST00000414786.6:n.3384G>A
ENST00000445220.5:c.3178G>A	ENSP00000489407.1:p.Asp1060Asn