Canonical Allele Identifier: CA515260012

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1706087
• ClinVar RCV Id: RCV002284617
• gnomAD v4: 22-50720690-C-T
• COSMIC: COSM5724406 ; COSM5724407
• MyVariant Identifiers: chr22:g.51159118C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720690C>T , CM000684.2:g.50720690C>T	GRCh38
NC_000022.10:g.51159118C>T , CM000684.1:g.51159118C>T	GRCh37
NC_000022.9:g.49505984C>T	NCBI36
NG_008607.2:g.51336C>T
NG_070230.1:g.56474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2458C>T	ENSP00000489147.2:p.Pro820Ser
ENST00000414786.7:n.3042C>T
ENST00000445220.7:c.1510C>T	ENSP00000489407.2:p.Pro504Ser
ENST00000664402.2:c.1000C>T	ENSP00000499475.1:p.Pro334Ser
ENST00000673971.2:c.*1456C>T	ENSP00000501192.1:n.*1456C>T
ENST00000445220.6:c.1510C>T	ENSP00000489407.2:p.Pro504Ser
ENST00000262795.6:c.2458C>T	ENSP00000489147.2:p.Pro820Ser
ENST00000664402.1:c.1000C>T	ENSP00000499475.1:p.Pro334Ser
ENST00000673971.1:c.*1456C>T	ENSP00000501192.1:n.*1456C>T
ENST00000262795.5:c.2854C>T	ENSP00000489147.1:p.Pro952Ser
ENST00000414786.6:n.3042C>T
ENST00000445220.5:c.2836C>T	ENSP00000489407.1:p.Pro946Ser