Canonical Allele Identifier: CA515264885

Gene: SHANK3

Linked Data

• dbSNP Id: rs1407026357
• gnomAD v3: 22-50722245-C-G
• gnomAD v4: 22-50722245-C-G
• MyVariant Identifiers: chr22:g.51160673C>G (hg19) ; chr22:g.50722245C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722245C>G , CM000684.2:g.50722245C>G	GRCh38
NC_000022.10:g.51160673C>G , CM000684.1:g.51160673C>G	GRCh37
NC_000022.9:g.49507539C>G	NCBI36
NG_008607.2:g.52891C>G
NG_070230.1:g.58029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4013C>G	ENSP00000489147.2:p.Ser1338Cys
ENST00000414786.7:n.4597C>G
ENST00000445220.7:c.3065C>G	ENSP00000489407.2:p.Ser1022Cys
ENST00000664402.2:c.2555C>G	ENSP00000499475.1:p.Ser852Cys
ENST00000673971.2:c.*3011C>G	ENSP00000501192.1:n.*3011C>G
ENST00000445220.6:c.3065C>G	ENSP00000489407.2:p.Ser1022Cys
ENST00000262795.6:c.4013C>G	ENSP00000489147.2:p.Ser1338Cys
ENST00000664402.1:c.2555C>G	ENSP00000499475.1:p.Ser852Cys
ENST00000673971.1:c.*3011C>G	ENSP00000501192.1:n.*3011C>G
ENST00000262795.5:c.4409C>G	ENSP00000489147.1:p.Ser1470Cys
ENST00000414786.6:n.4597C>G
ENST00000445220.5:c.4391C>G	ENSP00000489407.1:p.Ser1464Cys