Canonical Allele Identifier: CA515262415

Gene: SHANK3

Linked Data

• dbSNP Id: rs770244741
• gnomAD v2: 22-51159868-C-G
• gnomAD v4: 22-50721440-C-G
• MyVariant Identifiers: chr22:g.51159868C>G (hg19) ; chr22:g.50721440C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721440C>G , CM000684.2:g.50721440C>G	GRCh38
NC_000022.10:g.51159868C>G , CM000684.1:g.51159868C>G	GRCh37
NC_000022.9:g.49506734C>G	NCBI36
NG_008607.2:g.52086C>G
NG_070230.1:g.57224C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3208C>G	ENSP00000489147.2:p.Leu1070Val
ENST00000414786.7:n.3792C>G
ENST00000445220.7:c.2260C>G	ENSP00000489407.2:p.Leu754Val
ENST00000664402.2:c.1750C>G	ENSP00000499475.1:p.Leu584Val
ENST00000673971.2:c.*2206C>G	ENSP00000501192.1:n.*2206C>G
ENST00000445220.6:c.2260C>G	ENSP00000489407.2:p.Leu754Val
ENST00000262795.6:c.3208C>G	ENSP00000489147.2:p.Leu1070Val
ENST00000664402.1:c.1750C>G	ENSP00000499475.1:p.Leu584Val
ENST00000673971.1:c.*2206C>G	ENSP00000501192.1:n.*2206C>G
ENST00000262795.5:c.3604C>G	ENSP00000489147.1:p.Leu1202Val
ENST00000414786.6:n.3792C>G
ENST00000445220.5:c.3586C>G	ENSP00000489407.1:p.Leu1196Val