Canonical Allele Identifier: CA10326268

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1740042
• ClinVar RCV Id: RCV002332379
• dbSNP Id: rs768958030
• ExAC: 22:51160625 C / T
• gnomAD v2: 22-51160625-C-T
• gnomAD v3: 22-50722197-C-T
• gnomAD v4: 22-50722197-C-T
• MyVariant Identifiers: chr22:g.51160625C>T (hg19) ; chr22:g.50722197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722197C>T , CM000684.2:g.50722197C>T	GRCh38
NC_000022.10:g.51160625C>T , CM000684.1:g.51160625C>T	GRCh37
NC_000022.9:g.49507491C>T	NCBI36
NG_008607.2:g.52843C>T
NG_070230.1:g.57981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3965C>T	ENSP00000489147.2:p.Ala1322Val
ENST00000414786.7:n.4549C>T
ENST00000445220.7:c.3017C>T	ENSP00000489407.2:p.Ala1006Val
ENST00000664402.2:c.2507C>T	ENSP00000499475.1:p.Ala836Val
ENST00000673971.2:c.*2963C>T	ENSP00000501192.1:n.*2963C>T
ENST00000445220.6:c.3017C>T	ENSP00000489407.2:p.Ala1006Val
ENST00000262795.6:c.3965C>T	ENSP00000489147.2:p.Ala1322Val
ENST00000664402.1:c.2507C>T	ENSP00000499475.1:p.Ala836Val
ENST00000673971.1:c.*2963C>T	ENSP00000501192.1:n.*2963C>T
ENST00000262795.5:c.4361C>T	ENSP00000489147.1:p.Ala1454Val
ENST00000414786.6:n.4549C>T
ENST00000445220.5:c.4343C>T	ENSP00000489407.1:p.Ala1448Val