Canonical Allele Identifier: CA515263814

Gene: SHANK3

Linked Data

• dbSNP Id: rs1440628723
• gnomAD v3: 22-50721888-C-T
• gnomAD v4: 22-50721888-C-T
• COSMIC: COSM3992260 ; COSM3992261
• MyVariant Identifiers: chr22:g.51160316C>T (hg19) ; chr22:g.50721888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721888C>T , CM000684.2:g.50721888C>T	GRCh38
NC_000022.10:g.51160316C>T , CM000684.1:g.51160316C>T	GRCh37
NC_000022.9:g.49507182C>T	NCBI36
NG_008607.2:g.52534C>T
NG_070230.1:g.57672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3656C>T	ENSP00000489147.2:p.Ala1219Val
ENST00000414786.7:n.4240C>T
ENST00000445220.7:c.2708C>T	ENSP00000489407.2:p.Ala903Val
ENST00000664402.2:c.2198C>T	ENSP00000499475.1:p.Ala733Val
ENST00000673971.2:c.*2654C>T	ENSP00000501192.1:n.*2654C>T
ENST00000445220.6:c.2708C>T	ENSP00000489407.2:p.Ala903Val
ENST00000262795.6:c.3656C>T	ENSP00000489147.2:p.Ala1219Val
ENST00000664402.1:c.2198C>T	ENSP00000499475.1:p.Ala733Val
ENST00000673971.1:c.*2654C>T	ENSP00000501192.1:n.*2654C>T
ENST00000262795.5:c.4052C>T	ENSP00000489147.1:p.Ala1351Val
ENST00000414786.6:n.4240C>T
ENST00000445220.5:c.4034C>T	ENSP00000489407.1:p.Ala1345Val