Canonical Allele Identifier: CA515263461

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2240042
• ClinVar RCV Id: RCV002742167
• dbSNP Id: rs558643743
• gnomAD v4: 22-50721778-C-G
• MyVariant Identifiers: chr22:g.51160206C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721778C>G , CM000684.2:g.50721778C>G	GRCh38
NC_000022.10:g.51160206C>G , CM000684.1:g.51160206C>G	GRCh37
NC_000022.9:g.49507072C>G	NCBI36
NG_008607.2:g.52424C>G
NG_070230.1:g.57562C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3546C>G	ENSP00000489147.2:p.Asn1182Lys
ENST00000414786.7:n.4130C>G
ENST00000445220.7:c.2598C>G	ENSP00000489407.2:p.Asn866Lys
ENST00000664402.2:c.2088C>G	ENSP00000499475.1:p.Asn696Lys
ENST00000673971.2:c.*2544C>G	ENSP00000501192.1:n.*2544C>G
ENST00000445220.6:c.2598C>G	ENSP00000489407.2:p.Asn866Lys
ENST00000262795.6:c.3546C>G	ENSP00000489147.2:p.Asn1182Lys
ENST00000664402.1:c.2088C>G	ENSP00000499475.1:p.Asn696Lys
ENST00000673971.1:c.*2544C>G	ENSP00000501192.1:n.*2544C>G
ENST00000262795.5:c.3942C>G	ENSP00000489147.1:p.Asn1314Lys
ENST00000414786.6:n.4130C>G
ENST00000445220.5:c.3924C>G	ENSP00000489407.1:p.Asn1308Lys