Canonical Allele Identifier: CA515263923

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1737677
• ClinVar RCV Id: RCV002323167
• dbSNP Id: rs1190813595
• gnomAD v2: 22-51160349-G-A
• gnomAD v3: 22-50721921-G-A
• gnomAD v4: 22-50721921-G-A
• COSMIC: COSM1225620 ; COSM1225621
• MyVariant Identifiers: chr22:g.51160349G>A (hg19) ; chr22:g.50721921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721921G>A , CM000684.2:g.50721921G>A	GRCh38
NC_000022.10:g.51160349G>A , CM000684.1:g.51160349G>A	GRCh37
NC_000022.9:g.49507215G>A	NCBI36
NG_008607.2:g.52567G>A
NG_070230.1:g.57705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3689G>A	ENSP00000489147.2:p.Arg1230His
ENST00000414786.7:n.4273G>A
ENST00000445220.7:c.2741G>A	ENSP00000489407.2:p.Arg914His
ENST00000664402.2:c.2231G>A	ENSP00000499475.1:p.Arg744His
ENST00000673971.2:c.*2687G>A	ENSP00000501192.1:n.*2687G>A
ENST00000445220.6:c.2741G>A	ENSP00000489407.2:p.Arg914His
ENST00000262795.6:c.3689G>A	ENSP00000489147.2:p.Arg1230His
ENST00000664402.1:c.2231G>A	ENSP00000499475.1:p.Arg744His
ENST00000673971.1:c.*2687G>A	ENSP00000501192.1:n.*2687G>A
ENST00000262795.5:c.4085G>A	ENSP00000489147.1:p.Arg1362His
ENST00000414786.6:n.4273G>A
ENST00000445220.5:c.4067G>A	ENSP00000489407.1:p.Arg1356His