Canonical Allele Identifier: CA515262927

Gene: SHANK3

Linked Data

• dbSNP Id: rs1404423837
• gnomAD v2: 22-51160010-C-T
• gnomAD v4: 22-50721582-C-T
• COSMIC: COSM4490884 ; COSM4490885
• MyVariant Identifiers: chr22:g.51160010C>T (hg19) ; chr22:g.50721582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721582C>T , CM000684.2:g.50721582C>T	GRCh38
NC_000022.10:g.51160010C>T , CM000684.1:g.51160010C>T	GRCh37
NC_000022.9:g.49506876C>T	NCBI36
NG_008607.2:g.52228C>T
NG_070230.1:g.57366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3350C>T	ENSP00000489147.2:p.Pro1117Leu
ENST00000414786.7:n.3934C>T
ENST00000445220.7:c.2402C>T	ENSP00000489407.2:p.Pro801Leu
ENST00000664402.2:c.1892C>T	ENSP00000499475.1:p.Pro631Leu
ENST00000673971.2:c.*2348C>T	ENSP00000501192.1:n.*2348C>T
ENST00000445220.6:c.2402C>T	ENSP00000489407.2:p.Pro801Leu
ENST00000262795.6:c.3350C>T	ENSP00000489147.2:p.Pro1117Leu
ENST00000664402.1:c.1892C>T	ENSP00000499475.1:p.Pro631Leu
ENST00000673971.1:c.*2348C>T	ENSP00000501192.1:n.*2348C>T
ENST00000262795.5:c.3746C>T	ENSP00000489147.1:p.Pro1249Leu
ENST00000414786.6:n.3934C>T
ENST00000445220.5:c.3728C>T	ENSP00000489407.1:p.Pro1243Leu