Canonical Allele Identifier: CA515264409

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083295928
• gnomAD v3: 22-50722092-C-T
• gnomAD v4: 22-50722092-C-T
• MyVariant Identifiers: chr22:g.51160520C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722092C>T , CM000684.2:g.50722092C>T	GRCh38
NC_000022.10:g.51160520C>T , CM000684.1:g.51160520C>T	GRCh37
NC_000022.9:g.49507386C>T	NCBI36
NG_008607.2:g.52738C>T
NG_070230.1:g.57876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3860C>T	ENSP00000489147.2:p.Ser1287Phe
ENST00000414786.7:n.4444C>T
ENST00000445220.7:c.2912C>T	ENSP00000489407.2:p.Ser971Phe
ENST00000664402.2:c.2402C>T	ENSP00000499475.1:p.Ser801Phe
ENST00000673971.2:c.*2858C>T	ENSP00000501192.1:n.*2858C>T
ENST00000445220.6:c.2912C>T	ENSP00000489407.2:p.Ser971Phe
ENST00000262795.6:c.3860C>T	ENSP00000489147.2:p.Ser1287Phe
ENST00000664402.1:c.2402C>T	ENSP00000499475.1:p.Ser801Phe
ENST00000673971.1:c.*2858C>T	ENSP00000501192.1:n.*2858C>T
ENST00000262795.5:c.4256C>T	ENSP00000489147.1:p.Ser1419Phe
ENST00000414786.6:n.4444C>T
ENST00000445220.5:c.4238C>T	ENSP00000489407.1:p.Ser1413Phe