Canonical Allele Identifier: CA10325954

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2653425
• ClinVar RCV Id: RCV003427267
• dbSNP Id: rs780166385
• ExAC: 22:51159375 C / T
• gnomAD v2: 22-51159375-C-T
• gnomAD v3: 22-50720947-C-T
• gnomAD v4: 22-50720947-C-T
• MyVariant Identifiers: chr22:g.51159375C>T (hg19) ; chr22:g.50720947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720947C>T , CM000684.2:g.50720947C>T	GRCh38
NC_000022.10:g.51159375C>T , CM000684.1:g.51159375C>T	GRCh37
NC_000022.9:g.49506241C>T	NCBI36
NG_008607.2:g.51593C>T
NG_070230.1:g.56731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2715C>T	ENSP00000489147.2:p.Ser905=
ENST00000414786.7:n.3299C>T
ENST00000445220.7:c.1767C>T	ENSP00000489407.2:p.Ser589=
ENST00000664402.2:c.1257C>T	ENSP00000499475.1:p.Ser419=
ENST00000673971.2:c.*1713C>T	ENSP00000501192.1:n.*1713C>T
ENST00000445220.6:c.1767C>T	ENSP00000489407.2:p.Ser589=
ENST00000262795.6:c.2715C>T	ENSP00000489147.2:p.Ser905=
ENST00000664402.1:c.1257C>T	ENSP00000499475.1:p.Ser419=
ENST00000673971.1:c.*1713C>T	ENSP00000501192.1:n.*1713C>T
ENST00000262795.5:c.3111C>T	ENSP00000489147.1:p.Ser1037=
ENST00000414786.6:n.3299C>T
ENST00000445220.5:c.3093C>T	ENSP00000489407.1:p.Ser1031=