Canonical Allele Identifier: CA515260885

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2572703
• ClinVar RCV Id: RCV003314817
• dbSNP Id: rs1029927535
• gnomAD v2: 22-51159426-G-T
• gnomAD v3: 22-50720998-G-T
• gnomAD v4: 22-50720998-G-T
• MyVariant Identifiers: chr22:g.51159426G>T (hg19) ; chr22:g.50720998G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720998G>T , CM000684.2:g.50720998G>T	GRCh38
NC_000022.10:g.51159426G>T , CM000684.1:g.51159426G>T	GRCh37
NC_000022.9:g.49506292G>T	NCBI36
NG_008607.2:g.51644G>T
NG_070230.1:g.56782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2766G>T	ENSP00000489147.2:p.Glu922Asp
ENST00000414786.7:n.3350G>T
ENST00000445220.7:c.1818G>T	ENSP00000489407.2:p.Glu606Asp
ENST00000664402.2:c.1308G>T	ENSP00000499475.1:p.Glu436Asp
ENST00000673971.2:c.*1764G>T	ENSP00000501192.1:n.*1764G>T
ENST00000445220.6:c.1818G>T	ENSP00000489407.2:p.Glu606Asp
ENST00000262795.6:c.2766G>T	ENSP00000489147.2:p.Glu922Asp
ENST00000664402.1:c.1308G>T	ENSP00000499475.1:p.Glu436Asp
ENST00000673971.1:c.*1764G>T	ENSP00000501192.1:n.*1764G>T
ENST00000262795.5:c.3162G>T	ENSP00000489147.1:p.Glu1054Asp
ENST00000414786.6:n.3350G>T
ENST00000445220.5:c.3144G>T	ENSP00000489407.1:p.Glu1048Asp