Canonical Allele Identifier: CA10326237

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2387647
• ClinVar RCV Id: RCV002729678
• dbSNP Id: rs751604319
• ExAC: 22:51160538 C / T
• gnomAD v2: 22-51160538-C-T
• gnomAD v4: 22-50722110-C-T
• MyVariant Identifiers: chr22:g.51160538C>T (hg19) ; chr22:g.50722110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722110C>T , CM000684.2:g.50722110C>T	GRCh38
NC_000022.10:g.51160538C>T , CM000684.1:g.51160538C>T	GRCh37
NC_000022.9:g.49507404C>T	NCBI36
NG_008607.2:g.52756C>T
NG_070230.1:g.57894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3878C>T	ENSP00000489147.2:p.Pro1293Leu
ENST00000414786.7:n.4462C>T
ENST00000445220.7:c.2930C>T	ENSP00000489407.2:p.Pro977Leu
ENST00000664402.2:c.2420C>T	ENSP00000499475.1:p.Pro807Leu
ENST00000673971.2:c.*2876C>T	ENSP00000501192.1:n.*2876C>T
ENST00000445220.6:c.2930C>T	ENSP00000489407.2:p.Pro977Leu
ENST00000262795.6:c.3878C>T	ENSP00000489147.2:p.Pro1293Leu
ENST00000664402.1:c.2420C>T	ENSP00000499475.1:p.Pro807Leu
ENST00000673971.1:c.*2876C>T	ENSP00000501192.1:n.*2876C>T
ENST00000262795.5:c.4274C>T	ENSP00000489147.1:p.Pro1425Leu
ENST00000414786.6:n.4462C>T
ENST00000445220.5:c.4256C>T	ENSP00000489407.1:p.Pro1419Leu