Canonical Allele Identifier: CA515260708

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3026164
• ClinVar RCV Id: RCV003884235
• dbSNP Id: rs2083280388
• gnomAD v3: 22-50720935-C-A
• gnomAD v4: 22-50720935-C-A
• MyVariant Identifiers: chr22:g.51159363C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720935C>A , CM000684.2:g.50720935C>A	GRCh38
NC_000022.10:g.51159363C>A , CM000684.1:g.51159363C>A	GRCh37
NC_000022.9:g.49506229C>A	NCBI36
NG_008607.2:g.51581C>A
NG_070230.1:g.56719C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2703C>A	ENSP00000489147.2:p.Ala901=
ENST00000414786.7:n.3287C>A
ENST00000445220.7:c.1755C>A	ENSP00000489407.2:p.Ala585=
ENST00000664402.2:c.1245C>A	ENSP00000499475.1:p.Ala415=
ENST00000673971.2:c.*1701C>A	ENSP00000501192.1:n.*1701C>A
ENST00000445220.6:c.1755C>A	ENSP00000489407.2:p.Ala585=
ENST00000262795.6:c.2703C>A	ENSP00000489147.2:p.Ala901=
ENST00000664402.1:c.1245C>A	ENSP00000499475.1:p.Ala415=
ENST00000673971.1:c.*1701C>A	ENSP00000501192.1:n.*1701C>A
ENST00000262795.5:c.3099C>A	ENSP00000489147.1:p.Ala1033=
ENST00000414786.6:n.3287C>A
ENST00000445220.5:c.3081C>A	ENSP00000489407.1:p.Ala1027=