Canonical Allele Identifier: CA10326196

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 598640
• ClinVar RCV Id: RCV000735081 ; RCV002536533 ; RCV004535883
• dbSNP Id: rs73174429
• ExAC: 22:51160295 C / T
• gnomAD v2: 22-51160295-C-T
• gnomAD v3: 22-50721867-C-T
• gnomAD v4: 22-50721867-C-T
• MyVariant Identifiers: chr22:g.51160295C>T (hg19) ; chr22:g.50721867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721867C>T , CM000684.2:g.50721867C>T	GRCh38
NC_000022.10:g.51160295C>T , CM000684.1:g.51160295C>T	GRCh37
NC_000022.9:g.49507161C>T	NCBI36
NG_008607.2:g.52513C>T
NG_070230.1:g.57651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3635C>T	ENSP00000489147.2:p.Pro1212Leu
ENST00000414786.7:n.4219C>T
ENST00000445220.7:c.2687C>T	ENSP00000489407.2:p.Pro896Leu
ENST00000664402.2:c.2177C>T	ENSP00000499475.1:p.Pro726Leu
ENST00000673971.2:c.*2633C>T	ENSP00000501192.1:n.*2633C>T
ENST00000445220.6:c.2687C>T	ENSP00000489407.2:p.Pro896Leu
ENST00000262795.6:c.3635C>T	ENSP00000489147.2:p.Pro1212Leu
ENST00000664402.1:c.2177C>T	ENSP00000499475.1:p.Pro726Leu
ENST00000673971.1:c.*2633C>T	ENSP00000501192.1:n.*2633C>T
ENST00000262795.5:c.4031C>T	ENSP00000489147.1:p.Pro1344Leu
ENST00000414786.6:n.4219C>T
ENST00000445220.5:c.4013C>T	ENSP00000489407.1:p.Pro1338Leu