Canonical Allele Identifier: CA515264388

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1709377
• ClinVar RCV Id: RCV002289192
• dbSNP Id: rs1415484820
• gnomAD v2: 22-51160513-C-T
• gnomAD v4: 22-50722085-C-T
• MyVariant Identifiers: chr22:g.51160513C>T (hg19) ; chr22:g.50722085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722085C>T , CM000684.2:g.50722085C>T	GRCh38
NC_000022.10:g.51160513C>T , CM000684.1:g.51160513C>T	GRCh37
NC_000022.9:g.49507379C>T	NCBI36
NG_008607.2:g.52731C>T
NG_070230.1:g.57869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3853C>T	ENSP00000489147.2:p.Leu1285Phe
ENST00000414786.7:n.4437C>T
ENST00000445220.7:c.2905C>T	ENSP00000489407.2:p.Leu969Phe
ENST00000664402.2:c.2395C>T	ENSP00000499475.1:p.Leu799Phe
ENST00000673971.2:c.*2851C>T	ENSP00000501192.1:n.*2851C>T
ENST00000445220.6:c.2905C>T	ENSP00000489407.2:p.Leu969Phe
ENST00000262795.6:c.3853C>T	ENSP00000489147.2:p.Leu1285Phe
ENST00000664402.1:c.2395C>T	ENSP00000499475.1:p.Leu799Phe
ENST00000673971.1:c.*2851C>T	ENSP00000501192.1:n.*2851C>T
ENST00000262795.5:c.4249C>T	ENSP00000489147.1:p.Leu1417Phe
ENST00000414786.6:n.4437C>T
ENST00000445220.5:c.4231C>T	ENSP00000489407.1:p.Leu1411Phe