Canonical Allele Identifier: CA10326177

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3161549
• ClinVar RCV Id: RCV004450895
• dbSNP Id: rs751838006
• ExAC: 22:51160184 C / T
• gnomAD v2: 22-51160184-C-T
• gnomAD v4: 22-50721756-C-T
• MyVariant Identifiers: chr22:g.51160184C>T (hg19) ; chr22:g.50721756C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721756C>T , CM000684.2:g.50721756C>T	GRCh38
NC_000022.10:g.51160184C>T , CM000684.1:g.51160184C>T	GRCh37
NC_000022.9:g.49507050C>T	NCBI36
NG_008607.2:g.52402C>T
NG_070230.1:g.57540C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3524C>T	ENSP00000489147.2:p.Pro1175Leu
ENST00000414786.7:n.4108C>T
ENST00000445220.7:c.2576C>T	ENSP00000489407.2:p.Pro859Leu
ENST00000664402.2:c.2066C>T	ENSP00000499475.1:p.Pro689Leu
ENST00000673971.2:c.*2522C>T	ENSP00000501192.1:n.*2522C>T
ENST00000445220.6:c.2576C>T	ENSP00000489407.2:p.Pro859Leu
ENST00000262795.6:c.3524C>T	ENSP00000489147.2:p.Pro1175Leu
ENST00000664402.1:c.2066C>T	ENSP00000499475.1:p.Pro689Leu
ENST00000673971.1:c.*2522C>T	ENSP00000501192.1:n.*2522C>T
ENST00000262795.5:c.3920C>T	ENSP00000489147.1:p.Pro1307Leu
ENST00000414786.6:n.4108C>T
ENST00000445220.5:c.3902C>T	ENSP00000489407.1:p.Pro1301Leu