Canonical Allele Identifier: CA515262266

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3033270
• ClinVar RCV Id: RCV004536887
• MyVariant Identifiers: chr22:g.51159826G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721398G>C , CM000684.2:g.50721398G>C	GRCh38
NC_000022.10:g.51159826G>C , CM000684.1:g.51159826G>C	GRCh37
NC_000022.9:g.49506692G>C	NCBI36
NG_008607.2:g.52044G>C
NG_070230.1:g.57182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3166G>C	ENSP00000489147.2:p.Glu1056Gln
ENST00000414786.7:n.3750G>C
ENST00000445220.7:c.2218G>C	ENSP00000489407.2:p.Glu740Gln
ENST00000664402.2:c.1708G>C	ENSP00000499475.1:p.Glu570Gln
ENST00000673971.2:c.*2164G>C	ENSP00000501192.1:n.*2164G>C
ENST00000445220.6:c.2218G>C	ENSP00000489407.2:p.Glu740Gln
ENST00000262795.6:c.3166G>C	ENSP00000489147.2:p.Glu1056Gln
ENST00000664402.1:c.1708G>C	ENSP00000499475.1:p.Glu570Gln
ENST00000673971.1:c.*2164G>C	ENSP00000501192.1:n.*2164G>C
ENST00000262795.5:c.3562G>C	ENSP00000489147.1:p.Glu1188Gln
ENST00000414786.6:n.3750G>C
ENST00000445220.5:c.3544G>C	ENSP00000489407.1:p.Glu1182Gln