Canonical Allele Identifier: CA10325984

Gene: SHANK3

Linked Data

• dbSNP Id: rs761436311
• ExAC: 22:51159481 G / C
• gnomAD v2: 22-51159481-G-C
• gnomAD v4: 22-50721053-G-C
• MyVariant Identifiers: chr22:g.51159481G>C (hg19) ; chr22:g.50721053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721053G>C , CM000684.2:g.50721053G>C	GRCh38
NC_000022.10:g.51159481G>C , CM000684.1:g.51159481G>C	GRCh37
NC_000022.9:g.49506347G>C	NCBI36
NG_008607.2:g.51699G>C
NG_070230.1:g.56837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2821G>C	ENSP00000489147.2:p.Val941Leu
ENST00000414786.7:n.3405G>C
ENST00000445220.7:c.1873G>C	ENSP00000489407.2:p.Val625Leu
ENST00000664402.2:c.1363G>C	ENSP00000499475.1:p.Val455Leu
ENST00000673971.2:c.*1819G>C	ENSP00000501192.1:n.*1819G>C
ENST00000445220.6:c.1873G>C	ENSP00000489407.2:p.Val625Leu
ENST00000262795.6:c.2821G>C	ENSP00000489147.2:p.Val941Leu
ENST00000664402.1:c.1363G>C	ENSP00000499475.1:p.Val455Leu
ENST00000673971.1:c.*1819G>C	ENSP00000501192.1:n.*1819G>C
ENST00000262795.5:c.3217G>C	ENSP00000489147.1:p.Val1073Leu
ENST00000414786.6:n.3405G>C
ENST00000445220.5:c.3199G>C	ENSP00000489407.1:p.Val1067Leu