Canonical Allele Identifier: CA10326040

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1731674
• ClinVar RCV Id: RCV002460235
• dbSNP Id: rs760105836
• ExAC: 22:51159726 C / T
• gnomAD v2: 22-51159726-C-T
• gnomAD v3: 22-50721298-C-T
• gnomAD v4: 22-50721298-C-T
• MyVariant Identifiers: chr22:g.51159726C>T (hg19) ; chr22:g.50721298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721298C>T , CM000684.2:g.50721298C>T	GRCh38
NC_000022.10:g.51159726C>T , CM000684.1:g.51159726C>T	GRCh37
NC_000022.9:g.49506592C>T	NCBI36
NG_008607.2:g.51944C>T
NG_070230.1:g.57082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3066C>T	ENSP00000489147.2:p.Ser1022=
ENST00000414786.7:n.3650C>T
ENST00000445220.7:c.2118C>T	ENSP00000489407.2:p.Ser706=
ENST00000664402.2:c.1608C>T	ENSP00000499475.1:p.Ser536=
ENST00000673971.2:c.*2064C>T	ENSP00000501192.1:n.*2064C>T
ENST00000445220.6:c.2118C>T	ENSP00000489407.2:p.Ser706=
ENST00000262795.6:c.3066C>T	ENSP00000489147.2:p.Ser1022=
ENST00000664402.1:c.1608C>T	ENSP00000499475.1:p.Ser536=
ENST00000673971.1:c.*2064C>T	ENSP00000501192.1:n.*2064C>T
ENST00000262795.5:c.3462C>T	ENSP00000489147.1:p.Ser1154=
ENST00000414786.6:n.3650C>T
ENST00000445220.5:c.3444C>T	ENSP00000489407.1:p.Ser1148=