Canonical Allele Identifier: CA515263154

Gene: SHANK3

Linked Data

• dbSNP Id: rs1460362298
• gnomAD v2: 22-51160096-C-T
• gnomAD v4: 22-50721668-C-T
• MyVariant Identifiers: chr22:g.51160096C>T (hg19) ; chr22:g.50721668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721668C>T , CM000684.2:g.50721668C>T	GRCh38
NC_000022.10:g.51160096C>T , CM000684.1:g.51160096C>T	GRCh37
NC_000022.9:g.49506962C>T	NCBI36
NG_008607.2:g.52314C>T
NG_070230.1:g.57452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3436C>T	ENSP00000489147.2:p.Leu1146=
ENST00000414786.7:n.4020C>T
ENST00000445220.7:c.2488C>T	ENSP00000489407.2:p.Leu830=
ENST00000664402.2:c.1978C>T	ENSP00000499475.1:p.Leu660=
ENST00000673971.2:c.*2434C>T	ENSP00000501192.1:n.*2434C>T
ENST00000445220.6:c.2488C>T	ENSP00000489407.2:p.Leu830=
ENST00000262795.6:c.3436C>T	ENSP00000489147.2:p.Leu1146=
ENST00000664402.1:c.1978C>T	ENSP00000499475.1:p.Leu660=
ENST00000673971.1:c.*2434C>T	ENSP00000501192.1:n.*2434C>T
ENST00000262795.5:c.3832C>T	ENSP00000489147.1:p.Leu1278=
ENST00000414786.6:n.4020C>T
ENST00000445220.5:c.3814C>T	ENSP00000489407.1:p.Leu1272=