Canonical Allele Identifier: CA10325945

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 587798
• ClinVar RCV Id: RCV001613438 ; RCV002312289 ; RCV003479205 ; RCV004544965
• dbSNP Id: rs767058690
• ExAC: 22:51159293 G / T
• gnomAD v2: 22-51159293-G-T
• gnomAD v3: 22-50720865-G-T
• gnomAD v4: 22-50720865-G-T
• MyVariant Identifiers: chr22:g.51159293G>T (hg19) ; chr22:g.50720865G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720865G>T , CM000684.2:g.50720865G>T	GRCh38
NC_000022.10:g.51159293G>T , CM000684.1:g.51159293G>T	GRCh37
NC_000022.9:g.49506159G>T	NCBI36
NG_008607.2:g.51511G>T
NG_070230.1:g.56649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2633G>T	ENSP00000489147.2:p.Gly878Val
ENST00000414786.7:n.3217G>T
ENST00000445220.7:c.1685G>T	ENSP00000489407.2:p.Gly562Val
ENST00000664402.2:c.1175G>T	ENSP00000499475.1:p.Gly392Val
ENST00000673971.2:c.*1631G>T	ENSP00000501192.1:n.*1631G>T
ENST00000445220.6:c.1685G>T	ENSP00000489407.2:p.Gly562Val
ENST00000262795.6:c.2633G>T	ENSP00000489147.2:p.Gly878Val
ENST00000664402.1:c.1175G>T	ENSP00000499475.1:p.Gly392Val
ENST00000673971.1:c.*1631G>T	ENSP00000501192.1:n.*1631G>T
ENST00000262795.5:c.3029G>T	ENSP00000489147.1:p.Gly1010Val
ENST00000414786.6:n.3217G>T
ENST00000445220.5:c.3011G>T	ENSP00000489407.1:p.Gly1004Val