Canonical Allele Identifier: CA515259689

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1328816
• ClinVar RCV Id: RCV001797448
• dbSNP Id: rs1327088096
• gnomAD v4: 22-50720582-C-T
• MyVariant Identifiers: chr22:g.51159010C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720582C>T , CM000684.2:g.50720582C>T	GRCh38
NC_000022.10:g.51159010C>T , CM000684.1:g.51159010C>T	GRCh37
NC_000022.9:g.49505876C>T	NCBI36
NG_008607.2:g.51228C>T
NG_070230.1:g.56366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2350C>T	ENSP00000489147.2:p.Arg784Ter
ENST00000414786.7:n.2934C>T
ENST00000445220.7:c.1402C>T	ENSP00000489407.2:p.Arg468Ter
ENST00000664402.2:c.892C>T	ENSP00000499475.1:p.Arg298Ter
ENST00000673971.2:c.*1348C>T	ENSP00000501192.1:n.*1348C>T
ENST00000445220.6:c.1402C>T	ENSP00000489407.2:p.Arg468Ter
ENST00000262795.6:c.2350C>T	ENSP00000489147.2:p.Arg784Ter
ENST00000664402.1:c.892C>T	ENSP00000499475.1:p.Arg298Ter
ENST00000673971.1:c.*1348C>T	ENSP00000501192.1:n.*1348C>T
ENST00000262795.5:c.2746C>T	ENSP00000489147.1:p.Arg916Ter
ENST00000414786.6:n.2934C>T
ENST00000445220.5:c.2728C>T	ENSP00000489407.1:p.Arg910Ter