Canonical Allele Identifier: CA10325972

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3046475
• ClinVar RCV Id: RCV004542401
• dbSNP Id: rs747251155
• ExAC: 22:51159440 C / G
• gnomAD v2: 22-51159440-C-G
• gnomAD v3: 22-50721012-C-G
• gnomAD v4: 22-50721012-C-G
• MyVariant Identifiers: chr22:g.51159440C>G (hg19) ; chr22:g.50721012C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721012C>G , CM000684.2:g.50721012C>G	GRCh38
NC_000022.10:g.51159440C>G , CM000684.1:g.51159440C>G	GRCh37
NC_000022.9:g.49506306C>G	NCBI36
NG_008607.2:g.51658C>G
NG_070230.1:g.56796C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2780C>G	ENSP00000489147.2:p.Thr927Ser
ENST00000414786.7:n.3364C>G
ENST00000445220.7:c.1832C>G	ENSP00000489407.2:p.Thr611Ser
ENST00000664402.2:c.1322C>G	ENSP00000499475.1:p.Thr441Ser
ENST00000673971.2:c.*1778C>G	ENSP00000501192.1:n.*1778C>G
ENST00000445220.6:c.1832C>G	ENSP00000489407.2:p.Thr611Ser
ENST00000262795.6:c.2780C>G	ENSP00000489147.2:p.Thr927Ser
ENST00000664402.1:c.1322C>G	ENSP00000499475.1:p.Thr441Ser
ENST00000673971.1:c.*1778C>G	ENSP00000501192.1:n.*1778C>G
ENST00000262795.5:c.3176C>G	ENSP00000489147.1:p.Thr1059Ser
ENST00000414786.6:n.3364C>G
ENST00000445220.5:c.3158C>G	ENSP00000489407.1:p.Thr1053Ser