Canonical Allele Identifier: CA10325962

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1728001
• ClinVar RCV Id: RCV002320633
• dbSNP Id: rs767307442
• ExAC: 22:51159396 A / G
• gnomAD v2: 22-51159396-A-G
• gnomAD v3: 22-50720968-A-G
• gnomAD v4: 22-50720968-A-G
• MyVariant Identifiers: chr22:g.51159396A>G (hg19) ; chr22:g.50720968A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720968A>G , CM000684.2:g.50720968A>G	GRCh38
NC_000022.10:g.51159396A>G , CM000684.1:g.51159396A>G	GRCh37
NC_000022.9:g.49506262A>G	NCBI36
NG_008607.2:g.51614A>G
NG_070230.1:g.56752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2736A>G	ENSP00000489147.2:p.Pro912=
ENST00000414786.7:n.3320A>G
ENST00000445220.7:c.1788A>G	ENSP00000489407.2:p.Pro596=
ENST00000664402.2:c.1278A>G	ENSP00000499475.1:p.Pro426=
ENST00000673971.2:c.*1734A>G	ENSP00000501192.1:n.*1734A>G
ENST00000445220.6:c.1788A>G	ENSP00000489407.2:p.Pro596=
ENST00000262795.6:c.2736A>G	ENSP00000489147.2:p.Pro912=
ENST00000664402.1:c.1278A>G	ENSP00000499475.1:p.Pro426=
ENST00000673971.1:c.*1734A>G	ENSP00000501192.1:n.*1734A>G
ENST00000262795.5:c.3132A>G	ENSP00000489147.1:p.Pro1044=
ENST00000414786.6:n.3320A>G
ENST00000445220.5:c.3114A>G	ENSP00000489407.1:p.Pro1038=