Canonical Allele Identifier: CA515262712

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1012709
• ClinVar RCV Id: RCV001310818
• dbSNP Id: rs761720914
• gnomAD v4: 22-50721515-G-T
• MyVariant Identifiers: chr22:g.51159943G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721515G>T , CM000684.2:g.50721515G>T	GRCh38
NC_000022.10:g.51159943G>T , CM000684.1:g.51159943G>T	GRCh37
NC_000022.9:g.49506809G>T	NCBI36
NG_008607.2:g.52161G>T
NG_070230.1:g.57299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3283G>T	ENSP00000489147.2:p.Glu1095Ter
ENST00000414786.7:n.3867G>T
ENST00000445220.7:c.2335G>T	ENSP00000489407.2:p.Glu779Ter
ENST00000664402.2:c.1825G>T	ENSP00000499475.1:p.Glu609Ter
ENST00000673971.2:c.*2281G>T	ENSP00000501192.1:n.*2281G>T
ENST00000445220.6:c.2335G>T	ENSP00000489407.2:p.Glu779Ter
ENST00000262795.6:c.3283G>T	ENSP00000489147.2:p.Glu1095Ter
ENST00000664402.1:c.1825G>T	ENSP00000499475.1:p.Glu609Ter
ENST00000673971.1:c.*2281G>T	ENSP00000501192.1:n.*2281G>T
ENST00000262795.5:c.3679G>T	ENSP00000489147.1:p.Glu1227Ter
ENST00000414786.6:n.3867G>T
ENST00000445220.5:c.3661G>T	ENSP00000489407.1:p.Glu1221Ter