Canonical Allele Identifier: CA515254917

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 493349
• ClinVar RCV Id: RCV000585233
• dbSNP Id: rs1555907951
• gnomAD v4: 22-50697590-C-T
• MyVariant Identifiers: chr22:g.51136018C>T (hg19) ; chr22:g.50697590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697590C>T , CM000684.2:g.50697590C>T	GRCh38
NC_000022.10:g.51136018C>T , CM000684.1:g.51136018C>T	GRCh37
NC_000022.9:g.49482884C>T	NCBI36
NG_008607.2:g.28236C>T
NG_070230.1:g.33455C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.974C>T	ENSP00000489147.2:p.Pro325Leu
ENST00000414786.7:n.1558C>T
ENST00000445220.7:c.26C>T	ENSP00000489407.2:p.Pro9Leu
ENST00000673971.2:c.1331C>T	ENSP00000501192.1:p.Pro444Leu
ENST00000445220.6:c.26C>T	ENSP00000489407.2:p.Pro9Leu
ENST00000262795.6:c.974C>T	ENSP00000489147.2:p.Pro325Leu
ENST00000673971.1:c.1331C>T	ENSP00000501192.1:p.Pro444Leu
ENST00000673995.1:c.27C>T
ENST00000262795.5:c.1370C>T	ENSP00000489147.1:p.Pro457Leu
ENST00000414786.6:n.1558C>T
ENST00000445220.5:c.1352C>T	ENSP00000489407.1:p.Pro451Leu