Canonical Allele Identifier: CA10326274

Gene: SHANK3

Linked Data

• dbSNP Id: rs770978141
• ExAC: 22:51160646 G / A
• gnomAD v2: 22-51160646-G-A
• gnomAD v3: 22-50722218-G-A
• gnomAD v4: 22-50722218-G-A
• COSMIC: COSM4105268 ; COSM4105269 ; COSM6203182
• MyVariant Identifiers: chr22:g.51160646G>A (hg19) ; chr22:g.50722218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722218G>A , CM000684.2:g.50722218G>A	GRCh38
NC_000022.10:g.51160646G>A , CM000684.1:g.51160646G>A	GRCh37
NC_000022.9:g.49507512G>A	NCBI36
NG_008607.2:g.52864G>A
NG_070230.1:g.58002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3986G>A	ENSP00000489147.2:p.Arg1329His
ENST00000414786.7:n.4570G>A
ENST00000445220.7:c.3038G>A	ENSP00000489407.2:p.Arg1013His
ENST00000664402.2:c.2528G>A	ENSP00000499475.1:p.Arg843His
ENST00000673971.2:c.*2984G>A	ENSP00000501192.1:n.*2984G>A
ENST00000445220.6:c.3038G>A	ENSP00000489407.2:p.Arg1013His
ENST00000262795.6:c.3986G>A	ENSP00000489147.2:p.Arg1329His
ENST00000664402.1:c.2528G>A	ENSP00000499475.1:p.Arg843His
ENST00000673971.1:c.*2984G>A	ENSP00000501192.1:n.*2984G>A
ENST00000262795.5:c.4382G>A	ENSP00000489147.1:p.Arg1461His
ENST00000414786.6:n.4570G>A
ENST00000445220.5:c.4364G>A	ENSP00000489407.1:p.Arg1455His