Canonical Allele Identifier: CA10326284

Gene: SHANK3

Linked Data

• dbSNP Id: rs752072347
• ExAC: 22:51160696 G / C
• gnomAD v2: 22-51160696-G-C
• gnomAD v4: 22-50722268-G-C
• MyVariant Identifiers: chr22:g.51160696G>C (hg19) ; chr22:g.50722268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722268G>C , CM000684.2:g.50722268G>C	GRCh38
NC_000022.10:g.51160696G>C , CM000684.1:g.51160696G>C	GRCh37
NC_000022.9:g.49507562G>C	NCBI36
NG_008607.2:g.52914G>C
NG_070230.1:g.58052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4036G>C	ENSP00000489147.2:p.Glu1346Gln
ENST00000414786.7:n.4620G>C
ENST00000445220.7:c.3088G>C	ENSP00000489407.2:p.Glu1030Gln
ENST00000664402.2:c.2578G>C	ENSP00000499475.1:p.Glu860Gln
ENST00000673971.2:c.*3034G>C	ENSP00000501192.1:n.*3034G>C
ENST00000445220.6:c.3088G>C	ENSP00000489407.2:p.Glu1030Gln
ENST00000262795.6:c.4036G>C	ENSP00000489147.2:p.Glu1346Gln
ENST00000664402.1:c.2578G>C	ENSP00000499475.1:p.Glu860Gln
ENST00000673971.1:c.*3034G>C	ENSP00000501192.1:n.*3034G>C
ENST00000262795.5:c.4432G>C	ENSP00000489147.1:p.Glu1478Gln
ENST00000414786.6:n.4620G>C
ENST00000445220.5:c.4414G>C	ENSP00000489407.1:p.Glu1472Gln