Canonical Allele Identifier: CA515261368

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2442348
• ClinVar RCV Id: RCV003149121
• gnomAD v4: 22-50721176-C-T
• MyVariant Identifiers: chr22:g.51159604C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721176C>T , CM000684.2:g.50721176C>T	GRCh38
NC_000022.10:g.51159604C>T , CM000684.1:g.51159604C>T	GRCh37
NC_000022.9:g.49506470C>T	NCBI36
NG_008607.2:g.51822C>T
NG_070230.1:g.56960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2944C>T	ENSP00000489147.2:p.Arg982Ter
ENST00000414786.7:n.3528C>T
ENST00000445220.7:c.1996C>T	ENSP00000489407.2:p.Arg666Ter
ENST00000664402.2:c.1486C>T	ENSP00000499475.1:p.Arg496Ter
ENST00000673971.2:c.*1942C>T	ENSP00000501192.1:n.*1942C>T
ENST00000445220.6:c.1996C>T	ENSP00000489407.2:p.Arg666Ter
ENST00000262795.6:c.2944C>T	ENSP00000489147.2:p.Arg982Ter
ENST00000664402.1:c.1486C>T	ENSP00000499475.1:p.Arg496Ter
ENST00000673971.1:c.*1942C>T	ENSP00000501192.1:n.*1942C>T
ENST00000262795.5:c.3340C>T	ENSP00000489147.1:p.Arg1114Ter
ENST00000414786.6:n.3528C>T
ENST00000445220.5:c.3322C>T	ENSP00000489407.1:p.Arg1108Ter