Canonical Allele Identifier: CA10326110

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1204143
• ClinVar RCV Id: RCV001570409
• dbSNP Id: rs750186589
• ExAC: 22:51159953 G / A
• gnomAD v2: 22-51159953-G-A
• gnomAD v3: 22-50721525-G-A
• gnomAD v4: 22-50721525-G-A
• MyVariant Identifiers: chr22:g.51159953G>A (hg19) ; chr22:g.50721525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721525G>A , CM000684.2:g.50721525G>A	GRCh38
NC_000022.10:g.51159953G>A , CM000684.1:g.51159953G>A	GRCh37
NC_000022.9:g.49506819G>A	NCBI36
NG_008607.2:g.52171G>A
NG_070230.1:g.57309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3293G>A	ENSP00000489147.2:p.Arg1098His
ENST00000414786.7:n.3877G>A
ENST00000445220.7:c.2345G>A	ENSP00000489407.2:p.Arg782His
ENST00000664402.2:c.1835G>A	ENSP00000499475.1:p.Arg612His
ENST00000673971.2:c.*2291G>A	ENSP00000501192.1:n.*2291G>A
ENST00000445220.6:c.2345G>A	ENSP00000489407.2:p.Arg782His
ENST00000262795.6:c.3293G>A	ENSP00000489147.2:p.Arg1098His
ENST00000664402.1:c.1835G>A	ENSP00000499475.1:p.Arg612His
ENST00000673971.1:c.*2291G>A	ENSP00000501192.1:n.*2291G>A
ENST00000262795.5:c.3689G>A	ENSP00000489147.1:p.Arg1230His
ENST00000414786.6:n.3877G>A
ENST00000445220.5:c.3671G>A	ENSP00000489407.1:p.Arg1224His