Canonical Allele Identifier: CA515259774

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2443448
• ClinVar RCV Id: RCV003152055
• gnomAD v4: 22-50720612-C-T
• MyVariant Identifiers: chr22:g.51159040C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720612C>T , CM000684.2:g.50720612C>T	GRCh38
NC_000022.10:g.51159040C>T , CM000684.1:g.51159040C>T	GRCh37
NC_000022.9:g.49505906C>T	NCBI36
NG_008607.2:g.51258C>T
NG_070230.1:g.56396C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2380C>T	ENSP00000489147.2:p.Pro794Ser
ENST00000414786.7:n.2964C>T
ENST00000445220.7:c.1432C>T	ENSP00000489407.2:p.Pro478Ser
ENST00000664402.2:c.922C>T	ENSP00000499475.1:p.Pro308Ser
ENST00000673971.2:c.*1378C>T	ENSP00000501192.1:n.*1378C>T
ENST00000445220.6:c.1432C>T	ENSP00000489407.2:p.Pro478Ser
ENST00000262795.6:c.2380C>T	ENSP00000489147.2:p.Pro794Ser
ENST00000664402.1:c.922C>T	ENSP00000499475.1:p.Pro308Ser
ENST00000673971.1:c.*1378C>T	ENSP00000501192.1:n.*1378C>T
ENST00000262795.5:c.2776C>T	ENSP00000489147.1:p.Pro926Ser
ENST00000414786.6:n.2964C>T
ENST00000445220.5:c.2758C>T	ENSP00000489407.1:p.Pro920Ser