Canonical Allele Identifier: CA515264014

Gene: SHANK3

Linked Data

• dbSNP Id: rs1300043609
• gnomAD v2: 22-51160379-C-G
• gnomAD v4: 22-50721951-C-G
• MyVariant Identifiers: chr22:g.51160379C>G (hg19) ; chr22:g.50721951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721951C>G , CM000684.2:g.50721951C>G	GRCh38
NC_000022.10:g.51160379C>G , CM000684.1:g.51160379C>G	GRCh37
NC_000022.9:g.49507245C>G	NCBI36
NG_008607.2:g.52597C>G
NG_070230.1:g.57735C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3719C>G	ENSP00000489147.2:p.Thr1240Arg
ENST00000414786.7:n.4303C>G
ENST00000445220.7:c.2771C>G	ENSP00000489407.2:p.Thr924Arg
ENST00000664402.2:c.2261C>G	ENSP00000499475.1:p.Thr754Arg
ENST00000673971.2:c.*2717C>G	ENSP00000501192.1:n.*2717C>G
ENST00000445220.6:c.2771C>G	ENSP00000489407.2:p.Thr924Arg
ENST00000262795.6:c.3719C>G	ENSP00000489147.2:p.Thr1240Arg
ENST00000664402.1:c.2261C>G	ENSP00000499475.1:p.Thr754Arg
ENST00000673971.1:c.*2717C>G	ENSP00000501192.1:n.*2717C>G
ENST00000262795.5:c.4115C>G	ENSP00000489147.1:p.Thr1372Arg
ENST00000414786.6:n.4303C>G
ENST00000445220.5:c.4097C>G	ENSP00000489407.1:p.Thr1366Arg