Canonical Allele Identifier: CA10326180

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2672919
• ClinVar RCV Id: RCV003457104
• dbSNP Id: rs369541172
• ExAC: 22:51160209 G / A
• gnomAD v2: 22-51160209-G-A
• gnomAD v3: 22-50721781-G-A
• gnomAD v4: 22-50721781-G-A
• MyVariant Identifiers: chr22:g.51160209G>A (hg19) ; chr22:g.50721781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721781G>A , CM000684.2:g.50721781G>A	GRCh38
NC_000022.10:g.51160209G>A , CM000684.1:g.51160209G>A	GRCh37
NC_000022.9:g.49507075G>A	NCBI36
NG_008607.2:g.52427G>A
NG_070230.1:g.57565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3549G>A	ENSP00000489147.2:p.Gly1183=
ENST00000414786.7:n.4133G>A
ENST00000445220.7:c.2601G>A	ENSP00000489407.2:p.Gly867=
ENST00000664402.2:c.2091G>A	ENSP00000499475.1:p.Gly697=
ENST00000673971.2:c.*2547G>A	ENSP00000501192.1:n.*2547G>A
ENST00000445220.6:c.2601G>A	ENSP00000489407.2:p.Gly867=
ENST00000262795.6:c.3549G>A	ENSP00000489147.2:p.Gly1183=
ENST00000664402.1:c.2091G>A	ENSP00000499475.1:p.Gly697=
ENST00000673971.1:c.*2547G>A	ENSP00000501192.1:n.*2547G>A
ENST00000262795.5:c.3945G>A	ENSP00000489147.1:p.Gly1315=
ENST00000414786.6:n.4133G>A
ENST00000445220.5:c.3927G>A	ENSP00000489407.1:p.Gly1309=