Canonical Allele Identifier: CA10326228

Gene: SHANK3

Linked Data

• dbSNP Id: rs147610088
• ExAC: 22:51160482 C / T
• gnomAD v2: 22-51160482-C-T
• gnomAD v3: 22-50722054-C-T
• gnomAD v4: 22-50722054-C-T
• MyVariant Identifiers: chr22:g.51160482C>T (hg19) ; chr22:g.50722054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722054C>T , CM000684.2:g.50722054C>T	GRCh38
NC_000022.10:g.51160482C>T , CM000684.1:g.51160482C>T	GRCh37
NC_000022.9:g.49507348C>T	NCBI36
NG_008607.2:g.52700C>T
NG_070230.1:g.57838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3822C>T	ENSP00000489147.2:p.Leu1274=
ENST00000414786.7:n.4406C>T
ENST00000445220.7:c.2874C>T	ENSP00000489407.2:p.Leu958=
ENST00000664402.2:c.2364C>T	ENSP00000499475.1:p.Leu788=
ENST00000673971.2:c.*2820C>T	ENSP00000501192.1:n.*2820C>T
ENST00000445220.6:c.2874C>T	ENSP00000489407.2:p.Leu958=
ENST00000262795.6:c.3822C>T	ENSP00000489147.2:p.Leu1274=
ENST00000664402.1:c.2364C>T	ENSP00000499475.1:p.Leu788=
ENST00000673971.1:c.*2820C>T	ENSP00000501192.1:n.*2820C>T
ENST00000262795.5:c.4218C>T	ENSP00000489147.1:p.Leu1406=
ENST00000414786.6:n.4406C>T
ENST00000445220.5:c.4200C>T	ENSP00000489407.1:p.Leu1400=