Canonical Allele Identifier: CA515261800

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2542380
• ClinVar RCV Id: RCV003282242
• dbSNP Id: rs2083285718
• gnomAD v3: 22-50721318-C-T
• gnomAD v4: 22-50721318-C-T
• MyVariant Identifiers: chr22:g.51159746C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721318C>T , CM000684.2:g.50721318C>T	GRCh38
NC_000022.10:g.51159746C>T , CM000684.1:g.51159746C>T	GRCh37
NC_000022.9:g.49506612C>T	NCBI36
NG_008607.2:g.51964C>T
NG_070230.1:g.57102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3086C>T	ENSP00000489147.2:p.Ser1029Phe
ENST00000414786.7:n.3670C>T
ENST00000445220.7:c.2138C>T	ENSP00000489407.2:p.Ser713Phe
ENST00000664402.2:c.1628C>T	ENSP00000499475.1:p.Ser543Phe
ENST00000673971.2:c.*2084C>T	ENSP00000501192.1:n.*2084C>T
ENST00000445220.6:c.2138C>T	ENSP00000489407.2:p.Ser713Phe
ENST00000262795.6:c.3086C>T	ENSP00000489147.2:p.Ser1029Phe
ENST00000664402.1:c.1628C>T	ENSP00000499475.1:p.Ser543Phe
ENST00000673971.1:c.*2084C>T	ENSP00000501192.1:n.*2084C>T
ENST00000262795.5:c.3482C>T	ENSP00000489147.1:p.Ser1161Phe
ENST00000414786.6:n.3670C>T
ENST00000445220.5:c.3464C>T	ENSP00000489407.1:p.Ser1155Phe