Canonical Allele Identifier: CA10326187

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1327640
• ClinVar RCV Id: RCV001794582
• dbSNP Id: rs768398764
• ExAC: 22:51160238 C / T
• gnomAD v2: 22-51160238-C-T
• gnomAD v3: 22-50721810-C-T
• gnomAD v4: 22-50721810-C-T
• MyVariant Identifiers: chr22:g.51160238C>T (hg19) ; chr22:g.50721810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721810C>T , CM000684.2:g.50721810C>T	GRCh38
NC_000022.10:g.51160238C>T , CM000684.1:g.51160238C>T	GRCh37
NC_000022.9:g.49507104C>T	NCBI36
NG_008607.2:g.52456C>T
NG_070230.1:g.57594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3578C>T	ENSP00000489147.2:p.Pro1193Leu
ENST00000414786.7:n.4162C>T
ENST00000445220.7:c.2630C>T	ENSP00000489407.2:p.Pro877Leu
ENST00000664402.2:c.2120C>T	ENSP00000499475.1:p.Pro707Leu
ENST00000673971.2:c.*2576C>T	ENSP00000501192.1:n.*2576C>T
ENST00000445220.6:c.2630C>T	ENSP00000489407.2:p.Pro877Leu
ENST00000262795.6:c.3578C>T	ENSP00000489147.2:p.Pro1193Leu
ENST00000664402.1:c.2120C>T	ENSP00000499475.1:p.Pro707Leu
ENST00000673971.1:c.*2576C>T	ENSP00000501192.1:n.*2576C>T
ENST00000262795.5:c.3974C>T	ENSP00000489147.1:p.Pro1325Leu
ENST00000414786.6:n.4162C>T
ENST00000445220.5:c.3956C>T	ENSP00000489407.1:p.Pro1319Leu