Canonical Allele Identifier: CA10326269

Gene: SHANK3

Linked Data

• dbSNP Id: rs781686712
• ExAC: 22:51160632 C / T
• gnomAD v2: 22-51160632-C-T
• gnomAD v3: 22-50722204-C-T
• gnomAD v4: 22-50722204-C-T
• COSMIC: COSM5950830 ; COSM5950831
• MyVariant Identifiers: chr22:g.51160632C>T (hg19) ; chr22:g.50722204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722204C>T , CM000684.2:g.50722204C>T	GRCh38
NC_000022.10:g.51160632C>T , CM000684.1:g.51160632C>T	GRCh37
NC_000022.9:g.49507498C>T	NCBI36
NG_008607.2:g.52850C>T
NG_070230.1:g.57988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3972C>T	ENSP00000489147.2:p.Ala1324=
ENST00000414786.7:n.4556C>T
ENST00000445220.7:c.3024C>T	ENSP00000489407.2:p.Ala1008=
ENST00000664402.2:c.2514C>T	ENSP00000499475.1:p.Ala838=
ENST00000673971.2:c.*2970C>T	ENSP00000501192.1:n.*2970C>T
ENST00000445220.6:c.3024C>T	ENSP00000489407.2:p.Ala1008=
ENST00000262795.6:c.3972C>T	ENSP00000489147.2:p.Ala1324=
ENST00000664402.1:c.2514C>T	ENSP00000499475.1:p.Ala838=
ENST00000673971.1:c.*2970C>T	ENSP00000501192.1:n.*2970C>T
ENST00000262795.5:c.4368C>T	ENSP00000489147.1:p.Ala1456=
ENST00000414786.6:n.4556C>T
ENST00000445220.5:c.4350C>T	ENSP00000489407.1:p.Ala1450=