Canonical Allele Identifier: CA10326239

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 871608
• ClinVar RCV Id: RCV001091672
• dbSNP Id: rs767385272
• ExAC: 22:51160544 C / T
• gnomAD v2: 22-51160544-C-T
• gnomAD v4: 22-50722116-C-T
• MyVariant Identifiers: chr22:g.51160544C>T (hg19) ; chr22:g.50722116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722116C>T , CM000684.2:g.50722116C>T	GRCh38
NC_000022.10:g.51160544C>T , CM000684.1:g.51160544C>T	GRCh37
NC_000022.9:g.49507410C>T	NCBI36
NG_008607.2:g.52762C>T
NG_070230.1:g.57900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3884C>T	ENSP00000489147.2:p.Thr1295Ile
ENST00000414786.7:n.4468C>T
ENST00000445220.7:c.2936C>T	ENSP00000489407.2:p.Thr979Ile
ENST00000664402.2:c.2426C>T	ENSP00000499475.1:p.Thr809Ile
ENST00000673971.2:c.*2882C>T	ENSP00000501192.1:n.*2882C>T
ENST00000445220.6:c.2936C>T	ENSP00000489407.2:p.Thr979Ile
ENST00000262795.6:c.3884C>T	ENSP00000489147.2:p.Thr1295Ile
ENST00000664402.1:c.2426C>T	ENSP00000499475.1:p.Thr809Ile
ENST00000673971.1:c.*2882C>T	ENSP00000501192.1:n.*2882C>T
ENST00000262795.5:c.4280C>T	ENSP00000489147.1:p.Thr1427Ile
ENST00000414786.6:n.4468C>T
ENST00000445220.5:c.4262C>T	ENSP00000489407.1:p.Thr1421Ile