Canonical Allele Identifier: CA515264650

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1676400
• ClinVar RCV Id: RCV002221782
• dbSNP Id: rs2146833382
• MyVariant Identifiers: chr22:g.51160599G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722171G>C , CM000684.2:g.50722171G>C	GRCh38
NC_000022.10:g.51160599G>C , CM000684.1:g.51160599G>C	GRCh37
NC_000022.9:g.49507465G>C	NCBI36
NG_008607.2:g.52817G>C
NG_070230.1:g.57955G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3939G>C	ENSP00000489147.2:p.Gln1313His
ENST00000414786.7:n.4523G>C
ENST00000445220.7:c.2991G>C	ENSP00000489407.2:p.Gln997His
ENST00000664402.2:c.2481G>C	ENSP00000499475.1:p.Gln827His
ENST00000673971.2:c.*2937G>C	ENSP00000501192.1:n.*2937G>C
ENST00000445220.6:c.2991G>C	ENSP00000489407.2:p.Gln997His
ENST00000262795.6:c.3939G>C	ENSP00000489147.2:p.Gln1313His
ENST00000664402.1:c.2481G>C	ENSP00000499475.1:p.Gln827His
ENST00000673971.1:c.*2937G>C	ENSP00000501192.1:n.*2937G>C
ENST00000262795.5:c.4335G>C	ENSP00000489147.1:p.Gln1445His
ENST00000414786.6:n.4523G>C
ENST00000445220.5:c.4317G>C	ENSP00000489407.1:p.Gln1439His