Canonical Allele Identifier: CA515259921

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083276640
• gnomAD v4: 22-50720659-C-G
• MyVariant Identifiers: chr22:g.51159087C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720659C>G , CM000684.2:g.50720659C>G	GRCh38
NC_000022.10:g.51159087C>G , CM000684.1:g.51159087C>G	GRCh37
NC_000022.9:g.49505953C>G	NCBI36
NG_008607.2:g.51305C>G
NG_070230.1:g.56443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2427C>G	ENSP00000489147.2:p.Phe809Leu
ENST00000414786.7:n.3011C>G
ENST00000445220.7:c.1479C>G	ENSP00000489407.2:p.Phe493Leu
ENST00000664402.2:c.969C>G	ENSP00000499475.1:p.Phe323Leu
ENST00000673971.2:c.*1425C>G	ENSP00000501192.1:n.*1425C>G
ENST00000445220.6:c.1479C>G	ENSP00000489407.2:p.Phe493Leu
ENST00000262795.6:c.2427C>G	ENSP00000489147.2:p.Phe809Leu
ENST00000664402.1:c.969C>G	ENSP00000499475.1:p.Phe323Leu
ENST00000673971.1:c.*1425C>G	ENSP00000501192.1:n.*1425C>G
ENST00000262795.5:c.2823C>G	ENSP00000489147.1:p.Phe941Leu
ENST00000414786.6:n.3011C>G
ENST00000445220.5:c.2805C>G	ENSP00000489407.1:p.Phe935Leu