Canonical Allele Identifier: CA515259020

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1254067
• ClinVar RCV Id: RCV001665211 ; RCV002425018
• dbSNP Id: rs1453397190
• gnomAD v2: 22-51158781-G-A
• gnomAD v3: 22-50720353-G-A
• gnomAD v4: 22-50720353-G-A
• MyVariant Identifiers: chr22:g.51158781G>A (hg19) ; chr22:g.50720353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720353G>A , CM000684.2:g.50720353G>A	GRCh38
NC_000022.10:g.51158781G>A , CM000684.1:g.51158781G>A	GRCh37
NC_000022.9:g.49505647G>A	NCBI36
NG_008607.2:g.50999G>A
NG_070230.1:g.56137G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2121G>A	ENSP00000489147.2:p.Pro707=
ENST00000414786.7:n.2705G>A
ENST00000445220.7:c.1173G>A	ENSP00000489407.2:p.Pro391=
ENST00000664402.2:c.663G>A	ENSP00000499475.1:p.Pro221=
ENST00000673971.2:c.*1119G>A	ENSP00000501192.1:n.*1119G>A
ENST00000445220.6:c.1173G>A	ENSP00000489407.2:p.Pro391=
ENST00000262795.6:c.2121G>A	ENSP00000489147.2:p.Pro707=
ENST00000664402.1:c.663G>A	ENSP00000499475.1:p.Pro221=
ENST00000673971.1:c.*1119G>A	ENSP00000501192.1:n.*1119G>A
ENST00000262795.5:c.2517G>A	ENSP00000489147.1:p.Pro839=
ENST00000414786.6:n.2705G>A
ENST00000445220.5:c.2499G>A	ENSP00000489407.1:p.Pro833=