Canonical Allele Identifier: CA10326088

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 522460
• ClinVar RCV Id: RCV000625601
• dbSNP Id: rs753765611
• ExAC: 22:51159888 C / T
• gnomAD v2: 22-51159888-C-T
• gnomAD v4: 22-50721460-C-T
• MyVariant Identifiers: chr22:g.51159888C>T (hg19) ; chr22:g.50721460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721460C>T , CM000684.2:g.50721460C>T	GRCh38
NC_000022.10:g.51159888C>T , CM000684.1:g.51159888C>T	GRCh37
NC_000022.9:g.49506754C>T	NCBI36
NG_008607.2:g.52106C>T
NG_070230.1:g.57244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3228C>T	ENSP00000489147.2:p.Leu1076=
ENST00000414786.7:n.3812C>T
ENST00000445220.7:c.2280C>T	ENSP00000489407.2:p.Leu760=
ENST00000664402.2:c.1770C>T	ENSP00000499475.1:p.Leu590=
ENST00000673971.2:c.*2226C>T	ENSP00000501192.1:n.*2226C>T
ENST00000445220.6:c.2280C>T	ENSP00000489407.2:p.Leu760=
ENST00000262795.6:c.3228C>T	ENSP00000489147.2:p.Leu1076=
ENST00000664402.1:c.1770C>T	ENSP00000499475.1:p.Leu590=
ENST00000673971.1:c.*2226C>T	ENSP00000501192.1:n.*2226C>T
ENST00000262795.5:c.3624C>T	ENSP00000489147.1:p.Leu1208=
ENST00000414786.6:n.3812C>T
ENST00000445220.5:c.3606C>T	ENSP00000489407.1:p.Leu1202=