Canonical Allele Identifier: CA515259790

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2236008
• ClinVar RCV Id: RCV002732026
• gnomAD v4: 22-50720618-A-C
• MyVariant Identifiers: chr22:g.51159046A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720618A>C , CM000684.2:g.50720618A>C	GRCh38
NC_000022.10:g.51159046A>C , CM000684.1:g.51159046A>C	GRCh37
NC_000022.9:g.49505912A>C	NCBI36
NG_008607.2:g.51264A>C
NG_070230.1:g.56402A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2386A>C	ENSP00000489147.2:p.Ser796Arg
ENST00000414786.7:n.2970A>C
ENST00000445220.7:c.1438A>C	ENSP00000489407.2:p.Ser480Arg
ENST00000664402.2:c.928A>C	ENSP00000499475.1:p.Ser310Arg
ENST00000673971.2:c.*1384A>C	ENSP00000501192.1:n.*1384A>C
ENST00000445220.6:c.1438A>C	ENSP00000489407.2:p.Ser480Arg
ENST00000262795.6:c.2386A>C	ENSP00000489147.2:p.Ser796Arg
ENST00000664402.1:c.928A>C	ENSP00000499475.1:p.Ser310Arg
ENST00000673971.1:c.*1384A>C	ENSP00000501192.1:n.*1384A>C
ENST00000262795.5:c.2782A>C	ENSP00000489147.1:p.Ser928Arg
ENST00000414786.6:n.2970A>C
ENST00000445220.5:c.2764A>C	ENSP00000489407.1:p.Ser922Arg