Canonical Allele Identifier: CA515259858

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 588651
• ClinVar RCV Id: RCV002313590
• dbSNP Id: rs1569114967
• gnomAD v4: 22-50720640-C-T
• MyVariant Identifiers: chr22:g.51159068C>T (hg19) ; chr22:g.50720640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720640C>T , CM000684.2:g.50720640C>T	GRCh38
NC_000022.10:g.51159068C>T , CM000684.1:g.51159068C>T	GRCh37
NC_000022.9:g.49505934C>T	NCBI36
NG_008607.2:g.51286C>T
NG_070230.1:g.56424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2408C>T	ENSP00000489147.2:p.Ala803Val
ENST00000414786.7:n.2992C>T
ENST00000445220.7:c.1460C>T	ENSP00000489407.2:p.Ala487Val
ENST00000664402.2:c.950C>T	ENSP00000499475.1:p.Ala317Val
ENST00000673971.2:c.*1406C>T	ENSP00000501192.1:n.*1406C>T
ENST00000445220.6:c.1460C>T	ENSP00000489407.2:p.Ala487Val
ENST00000262795.6:c.2408C>T	ENSP00000489147.2:p.Ala803Val
ENST00000664402.1:c.950C>T	ENSP00000499475.1:p.Ala317Val
ENST00000673971.1:c.*1406C>T	ENSP00000501192.1:n.*1406C>T
ENST00000262795.5:c.2804C>T	ENSP00000489147.1:p.Ala935Val
ENST00000414786.6:n.2992C>T
ENST00000445220.5:c.2786C>T	ENSP00000489407.1:p.Ala929Val