Canonical Allele Identifier: CA515262668

Gene: SHANK3

Linked Data

• dbSNP Id: rs1325667838
• gnomAD v2: 22-51159931-C-G
• gnomAD v4: 22-50721503-C-G
• MyVariant Identifiers: chr22:g.51159931C>G (hg19) ; chr22:g.50721503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721503C>G , CM000684.2:g.50721503C>G	GRCh38
NC_000022.10:g.51159931C>G , CM000684.1:g.51159931C>G	GRCh37
NC_000022.9:g.49506797C>G	NCBI36
NG_008607.2:g.52149C>G
NG_070230.1:g.57287C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3271C>G	ENSP00000489147.2:p.Leu1091Val
ENST00000414786.7:n.3855C>G
ENST00000445220.7:c.2323C>G	ENSP00000489407.2:p.Leu775Val
ENST00000664402.2:c.1813C>G	ENSP00000499475.1:p.Leu605Val
ENST00000673971.2:c.*2269C>G	ENSP00000501192.1:n.*2269C>G
ENST00000445220.6:c.2323C>G	ENSP00000489407.2:p.Leu775Val
ENST00000262795.6:c.3271C>G	ENSP00000489147.2:p.Leu1091Val
ENST00000664402.1:c.1813C>G	ENSP00000499475.1:p.Leu605Val
ENST00000673971.1:c.*2269C>G	ENSP00000501192.1:n.*2269C>G
ENST00000262795.5:c.3667C>G	ENSP00000489147.1:p.Leu1223Val
ENST00000414786.6:n.3855C>G
ENST00000445220.5:c.3649C>G	ENSP00000489407.1:p.Leu1217Val