Canonical Allele Identifier: CA10325987

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1803663
• ClinVar RCV Id: RCV002467333 ; RCV003355860
• dbSNP Id: rs369123220
• ExAC: 22:51159496 C / T
• gnomAD v2: 22-51159496-C-T
• gnomAD v3: 22-50721068-C-T
• gnomAD v4: 22-50721068-C-T
• MyVariant Identifiers: chr22:g.51159496C>T (hg19) ; chr22:g.50721068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721068C>T , CM000684.2:g.50721068C>T	GRCh38
NC_000022.10:g.51159496C>T , CM000684.1:g.51159496C>T	GRCh37
NC_000022.9:g.49506362C>T	NCBI36
NG_008607.2:g.51714C>T
NG_070230.1:g.56852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2836C>T	ENSP00000489147.2:p.Pro946Ser
ENST00000414786.7:n.3420C>T
ENST00000445220.7:c.1888C>T	ENSP00000489407.2:p.Pro630Ser
ENST00000664402.2:c.1378C>T	ENSP00000499475.1:p.Pro460Ser
ENST00000673971.2:c.*1834C>T	ENSP00000501192.1:n.*1834C>T
ENST00000445220.6:c.1888C>T	ENSP00000489407.2:p.Pro630Ser
ENST00000262795.6:c.2836C>T	ENSP00000489147.2:p.Pro946Ser
ENST00000664402.1:c.1378C>T	ENSP00000499475.1:p.Pro460Ser
ENST00000673971.1:c.*1834C>T	ENSP00000501192.1:n.*1834C>T
ENST00000262795.5:c.3232C>T	ENSP00000489147.1:p.Pro1078Ser
ENST00000414786.6:n.3420C>T
ENST00000445220.5:c.3214C>T	ENSP00000489407.1:p.Pro1072Ser