Canonical Allele Identifier: CA515255031

Gene: SHANK3

Linked Data

• dbSNP Id: rs1215144180
• gnomAD v3: 22-50697630-C-T
• gnomAD v4: 22-50697630-C-T
• MyVariant Identifiers: chr22:g.51136058C>T (hg19) ; chr22:g.50697630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697630C>T , CM000684.2:g.50697630C>T	GRCh38
NC_000022.10:g.51136058C>T , CM000684.1:g.51136058C>T	GRCh37
NC_000022.9:g.49482924C>T	NCBI36
NG_008607.2:g.28276C>T
NG_070230.1:g.33495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1014C>T	ENSP00000489147.2:p.Val338=
ENST00000414786.7:n.1598C>T
ENST00000445220.7:c.66C>T	ENSP00000489407.2:p.Val22=
ENST00000673971.2:c.1371C>T	ENSP00000501192.1:p.Val457=
ENST00000445220.6:c.66C>T	ENSP00000489407.2:p.Val22=
ENST00000262795.6:c.1014C>T	ENSP00000489147.2:p.Val338=
ENST00000673971.1:c.1371C>T	ENSP00000501192.1:p.Val457=
ENST00000673995.1:c.67C>T
ENST00000262795.5:c.1410C>T	ENSP00000489147.1:p.Val470=
ENST00000414786.6:n.1598C>T
ENST00000445220.5:c.1392C>T	ENSP00000489407.1:p.Val464=