Canonical Allele Identifier: CA10325958

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 588766
• ClinVar RCV Id: RCV002315265
• dbSNP Id: rs762947232
• ExAC: 22:51159379 C / T
• gnomAD v2: 22-51159379-C-T
• gnomAD v3: 22-50720951-C-T
• gnomAD v4: 22-50720951-C-T
• MyVariant Identifiers: chr22:g.51159379C>T (hg19) ; chr22:g.50720951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720951C>T , CM000684.2:g.50720951C>T	GRCh38
NC_000022.10:g.51159379C>T , CM000684.1:g.51159379C>T	GRCh37
NC_000022.9:g.49506245C>T	NCBI36
NG_008607.2:g.51597C>T
NG_070230.1:g.56735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2719C>T	ENSP00000489147.2:p.Pro907Ser
ENST00000414786.7:n.3303C>T
ENST00000445220.7:c.1771C>T	ENSP00000489407.2:p.Pro591Ser
ENST00000664402.2:c.1261C>T	ENSP00000499475.1:p.Pro421Ser
ENST00000673971.2:c.*1717C>T	ENSP00000501192.1:n.*1717C>T
ENST00000445220.6:c.1771C>T	ENSP00000489407.2:p.Pro591Ser
ENST00000262795.6:c.2719C>T	ENSP00000489147.2:p.Pro907Ser
ENST00000664402.1:c.1261C>T	ENSP00000499475.1:p.Pro421Ser
ENST00000673971.1:c.*1717C>T	ENSP00000501192.1:n.*1717C>T
ENST00000262795.5:c.3115C>T	ENSP00000489147.1:p.Pro1039Ser
ENST00000414786.6:n.3303C>T
ENST00000445220.5:c.3097C>T	ENSP00000489407.1:p.Pro1033Ser