Canonical Allele Identifier: CA10326109

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1693448
• ClinVar RCV Id: RCV002260859
• dbSNP Id: rs765080418
• ExAC: 22:51159952 C / G
• gnomAD v2: 22-51159952-C-G
• gnomAD v4: 22-50721524-C-G
• MyVariant Identifiers: chr22:g.51159952C>G (hg19) ; chr22:g.50721524C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721524C>G , CM000684.2:g.50721524C>G	GRCh38
NC_000022.10:g.51159952C>G , CM000684.1:g.51159952C>G	GRCh37
NC_000022.9:g.49506818C>G	NCBI36
NG_008607.2:g.52170C>G
NG_070230.1:g.57308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3292C>G	ENSP00000489147.2:p.Arg1098Gly
ENST00000414786.7:n.3876C>G
ENST00000445220.7:c.2344C>G	ENSP00000489407.2:p.Arg782Gly
ENST00000664402.2:c.1834C>G	ENSP00000499475.1:p.Arg612Gly
ENST00000673971.2:c.*2290C>G	ENSP00000501192.1:n.*2290C>G
ENST00000445220.6:c.2344C>G	ENSP00000489407.2:p.Arg782Gly
ENST00000262795.6:c.3292C>G	ENSP00000489147.2:p.Arg1098Gly
ENST00000664402.1:c.1834C>G	ENSP00000499475.1:p.Arg612Gly
ENST00000673971.1:c.*2290C>G	ENSP00000501192.1:n.*2290C>G
ENST00000262795.5:c.3688C>G	ENSP00000489147.1:p.Arg1230Gly
ENST00000414786.6:n.3876C>G
ENST00000445220.5:c.3670C>G	ENSP00000489407.1:p.Arg1224Gly