Canonical Allele Identifier: CA180434

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 167684
• ClinVar RCV Id: RCV000735080 ; RCV001668310 ; RCV002313002
• dbSNP Id: rs200077311
• ExAC: 22:51159624 C / T
• gnomAD v2: 22-51159624-C-T
• gnomAD v3: 22-50721196-C-T
• gnomAD v4: 22-50721196-C-T
• MyVariant Identifiers: chr22:g.51159624C>T (hg19) ; chr22:g.50721196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721196C>T , CM000684.2:g.50721196C>T	GRCh38
NC_000022.10:g.51159624C>T , CM000684.1:g.51159624C>T	GRCh37
NC_000022.9:g.49506490C>T	NCBI36
NG_008607.2:g.51842C>T
NG_070230.1:g.56980C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2964C>T	ENSP00000489147.2:p.Ser988=
ENST00000414786.7:n.3548C>T
ENST00000445220.7:c.2016C>T	ENSP00000489407.2:p.Ser672=
ENST00000664402.2:c.1506C>T	ENSP00000499475.1:p.Ser502=
ENST00000673971.2:c.*1962C>T	ENSP00000501192.1:n.*1962C>T
ENST00000445220.6:c.2016C>T	ENSP00000489407.2:p.Ser672=
ENST00000262795.6:c.2964C>T	ENSP00000489147.2:p.Ser988=
ENST00000664402.1:c.1506C>T	ENSP00000499475.1:p.Ser502=
ENST00000673971.1:c.*1962C>T	ENSP00000501192.1:n.*1962C>T
ENST00000262795.5:c.3360C>T	ENSP00000489147.1:p.Ser1120=
ENST00000414786.6:n.3548C>T
ENST00000445220.5:c.3342C>T	ENSP00000489407.1:p.Ser1114=