Canonical Allele Identifier: CA515264007

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721949-C-A
• COSMIC: COSM4646689 ; COSM4646690
• MyVariant Identifiers: chr22:g.51160377C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721949C>A , CM000684.2:g.50721949C>A	GRCh38
NC_000022.10:g.51160377C>A , CM000684.1:g.51160377C>A	GRCh37
NC_000022.9:g.49507243C>A	NCBI36
NG_008607.2:g.52595C>A
NG_070230.1:g.57733C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3717C>A	ENSP00000489147.2:p.Thr1239=
ENST00000414786.7:n.4301C>A
ENST00000445220.7:c.2769C>A	ENSP00000489407.2:p.Thr923=
ENST00000664402.2:c.2259C>A	ENSP00000499475.1:p.Thr753=
ENST00000673971.2:c.*2715C>A	ENSP00000501192.1:n.*2715C>A
ENST00000445220.6:c.2769C>A	ENSP00000489407.2:p.Thr923=
ENST00000262795.6:c.3717C>A	ENSP00000489147.2:p.Thr1239=
ENST00000664402.1:c.2259C>A	ENSP00000499475.1:p.Thr753=
ENST00000673971.1:c.*2715C>A	ENSP00000501192.1:n.*2715C>A
ENST00000262795.5:c.4113C>A	ENSP00000489147.1:p.Thr1371=
ENST00000414786.6:n.4301C>A
ENST00000445220.5:c.4095C>A	ENSP00000489407.1:p.Thr1365=