Canonical Allele Identifier: CA515259335

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720462-C-G
• MyVariant Identifiers: chr22:g.51158890C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720462C>G , CM000684.2:g.50720462C>G	GRCh38
NC_000022.10:g.51158890C>G , CM000684.1:g.51158890C>G	GRCh37
NC_000022.9:g.49505756C>G	NCBI36
NG_008607.2:g.51108C>G
NG_070230.1:g.56246C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2230C>G	ENSP00000489147.2:p.Leu744Val
ENST00000414786.7:n.2814C>G
ENST00000445220.7:c.1282C>G	ENSP00000489407.2:p.Leu428Val
ENST00000664402.2:c.772C>G	ENSP00000499475.1:p.Leu258Val
ENST00000673971.2:c.*1228C>G	ENSP00000501192.1:n.*1228C>G
ENST00000445220.6:c.1282C>G	ENSP00000489407.2:p.Leu428Val
ENST00000262795.6:c.2230C>G	ENSP00000489147.2:p.Leu744Val
ENST00000664402.1:c.772C>G	ENSP00000499475.1:p.Leu258Val
ENST00000673971.1:c.*1228C>G	ENSP00000501192.1:n.*1228C>G
ENST00000262795.5:c.2626C>G	ENSP00000489147.1:p.Leu876Val
ENST00000414786.6:n.2814C>G
ENST00000445220.5:c.2608C>G	ENSP00000489407.1:p.Leu870Val