Canonical Allele Identifier: CA515264989

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1217658
• ClinVar RCV Id: RCV001589917 ; RCV002579475
• dbSNP Id: rs1216527991
• gnomAD v2: 22-51160703-G-A
• gnomAD v4: 22-50722275-G-A
• MyVariant Identifiers: chr22:g.51160703G>A (hg19) ; chr22:g.50722275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722275G>A , CM000684.2:g.50722275G>A	GRCh38
NC_000022.10:g.51160703G>A , CM000684.1:g.51160703G>A	GRCh37
NC_000022.9:g.49507569G>A	NCBI36
NG_008607.2:g.52921G>A
NG_070230.1:g.58059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4043G>A	ENSP00000489147.2:p.Arg1348Gln
ENST00000414786.7:n.4627G>A
ENST00000445220.7:c.3095G>A	ENSP00000489407.2:p.Arg1032Gln
ENST00000664402.2:c.2585G>A	ENSP00000499475.1:p.Arg862Gln
ENST00000673971.2:c.*3041G>A	ENSP00000501192.1:n.*3041G>A
ENST00000445220.6:c.3095G>A	ENSP00000489407.2:p.Arg1032Gln
ENST00000262795.6:c.4043G>A	ENSP00000489147.2:p.Arg1348Gln
ENST00000664402.1:c.2585G>A	ENSP00000499475.1:p.Arg862Gln
ENST00000673971.1:c.*3041G>A	ENSP00000501192.1:n.*3041G>A
ENST00000262795.5:c.4439G>A	ENSP00000489147.1:p.Arg1480Gln
ENST00000414786.6:n.4627G>A
ENST00000445220.5:c.4421G>A	ENSP00000489407.1:p.Arg1474Gln