Canonical Allele Identifier: CA10326347

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1290001
• ClinVar RCV Id: RCV001714909 ; RCV001775182 ; RCV002343801
• dbSNP Id: rs751652089
• ExAC: 22:51169479 C / T
• gnomAD v2: 22-51169479-C-T
• gnomAD v3: 22-50731051-C-T
• gnomAD v4: 22-50731051-C-T
• MyVariant Identifiers: chr22:g.51169479C>T (hg19) ; chr22:g.50731051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731051C>T , CM000684.2:g.50731051C>T	GRCh38
NC_000022.10:g.51169479C>T , CM000684.1:g.51169479C>T	GRCh37
NC_000022.9:g.49516345C>T	NCBI36
NG_008607.2:g.61697C>T
NG_070230.1:g.66835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4563C>T	ENSP00000489147.2:p.Pro1521=
ENST00000414786.7:n.5147C>T
ENST00000445220.7:c.3615C>T	ENSP00000489407.2:p.Pro1205=
ENST00000664402.2:c.3105C>T	ENSP00000499475.1:p.Pro1035=
ENST00000673971.2:c.*3561C>T	ENSP00000501192.1:n.*3561C>T
ENST00000445220.6:c.3615C>T	ENSP00000489407.2:p.Pro1205=
ENST00000262795.6:c.4563C>T	ENSP00000489147.2:p.Pro1521=
ENST00000659388.1:c.378C>T	ENSP00000499632.1:p.Pro126=
ENST00000664402.1:c.3105C>T	ENSP00000499475.1:p.Pro1035=
ENST00000673971.1:c.*3561C>T	ENSP00000501192.1:n.*3561C>T
ENST00000262795.5:c.4932C>T	ENSP00000489147.1:p.Pro1644=
ENST00000414786.6:n.5147C>T
ENST00000445220.5:c.4914C>T	ENSP00000489407.1:p.Pro1638=