Canonical Allele Identifier: CA515263492

Gene: SHANK3

Linked Data

• dbSNP Id: rs778945775
• gnomAD v3: 22-50721788-C-G
• gnomAD v4: 22-50721788-C-G
• MyVariant Identifiers: chr22:g.51160216C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721788C>G , CM000684.2:g.50721788C>G	GRCh38
NC_000022.10:g.51160216C>G , CM000684.1:g.51160216C>G	GRCh37
NC_000022.9:g.49507082C>G	NCBI36
NG_008607.2:g.52434C>G
NG_070230.1:g.57572C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3556C>G	ENSP00000489147.2:p.Leu1186Val
ENST00000414786.7:n.4140C>G
ENST00000445220.7:c.2608C>G	ENSP00000489407.2:p.Leu870Val
ENST00000664402.2:c.2098C>G	ENSP00000499475.1:p.Leu700Val
ENST00000673971.2:c.*2554C>G	ENSP00000501192.1:n.*2554C>G
ENST00000445220.6:c.2608C>G	ENSP00000489407.2:p.Leu870Val
ENST00000262795.6:c.3556C>G	ENSP00000489147.2:p.Leu1186Val
ENST00000664402.1:c.2098C>G	ENSP00000499475.1:p.Leu700Val
ENST00000673971.1:c.*2554C>G	ENSP00000501192.1:n.*2554C>G
ENST00000262795.5:c.3952C>G	ENSP00000489147.1:p.Leu1318Val
ENST00000414786.6:n.4140C>G
ENST00000445220.5:c.3934C>G	ENSP00000489407.1:p.Leu1312Val