Canonical Allele Identifier: CA10326140

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 589163
• ClinVar RCV Id: RCV002318103
• dbSNP Id: rs374885308
• ExAC: 22:51160055 A / T
• gnomAD v2: 22-51160055-A-T
• gnomAD v3: 22-50721627-A-T
• gnomAD v4: 22-50721627-A-T
• MyVariant Identifiers: chr22:g.51160055A>T (hg19) ; chr22:g.50721627A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721627A>T , CM000684.2:g.50721627A>T	GRCh38
NC_000022.10:g.51160055A>T , CM000684.1:g.51160055A>T	GRCh37
NC_000022.9:g.49506921A>T	NCBI36
NG_008607.2:g.52273A>T
NG_070230.1:g.57411A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3395A>T	ENSP00000489147.2:p.Asp1132Val
ENST00000414786.7:n.3979A>T
ENST00000445220.7:c.2447A>T	ENSP00000489407.2:p.Asp816Val
ENST00000664402.2:c.1937A>T	ENSP00000499475.1:p.Asp646Val
ENST00000673971.2:c.*2393A>T	ENSP00000501192.1:n.*2393A>T
ENST00000445220.6:c.2447A>T	ENSP00000489407.2:p.Asp816Val
ENST00000262795.6:c.3395A>T	ENSP00000489147.2:p.Asp1132Val
ENST00000664402.1:c.1937A>T	ENSP00000499475.1:p.Asp646Val
ENST00000673971.1:c.*2393A>T	ENSP00000501192.1:n.*2393A>T
ENST00000262795.5:c.3791A>T	ENSP00000489147.1:p.Asp1264Val
ENST00000414786.6:n.3979A>T
ENST00000445220.5:c.3773A>T	ENSP00000489407.1:p.Asp1258Val