Canonical Allele Identifier: CA515262752

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 588009
• ClinVar RCV Id: RCV002312488
• dbSNP Id: rs1415046695
• gnomAD v2: 22-51159954-C-G
• gnomAD v3: 22-50721526-C-G
• gnomAD v4: 22-50721526-C-G
• MyVariant Identifiers: chr22:g.51159954C>G (hg19) ; chr22:g.50721526C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721526C>G , CM000684.2:g.50721526C>G	GRCh38
NC_000022.10:g.51159954C>G , CM000684.1:g.51159954C>G	GRCh37
NC_000022.9:g.49506820C>G	NCBI36
NG_008607.2:g.52172C>G
NG_070230.1:g.57310C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3294C>G	ENSP00000489147.2:p.Arg1098=
ENST00000414786.7:n.3878C>G
ENST00000445220.7:c.2346C>G	ENSP00000489407.2:p.Arg782=
ENST00000664402.2:c.1836C>G	ENSP00000499475.1:p.Arg612=
ENST00000673971.2:c.*2292C>G	ENSP00000501192.1:n.*2292C>G
ENST00000445220.6:c.2346C>G	ENSP00000489407.2:p.Arg782=
ENST00000262795.6:c.3294C>G	ENSP00000489147.2:p.Arg1098=
ENST00000664402.1:c.1836C>G	ENSP00000499475.1:p.Arg612=
ENST00000673971.1:c.*2292C>G	ENSP00000501192.1:n.*2292C>G
ENST00000262795.5:c.3690C>G	ENSP00000489147.1:p.Arg1230=
ENST00000414786.6:n.3878C>G
ENST00000445220.5:c.3672C>G	ENSP00000489407.1:p.Arg1224=