Canonical Allele Identifier: CA10326118

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2527645
• ClinVar RCV Id: RCV003242008
• dbSNP Id: rs778326950
• ExAC: 22:51159979 G / C
• gnomAD v2: 22-51159979-G-C
• gnomAD v4: 22-50721551-G-C
• MyVariant Identifiers: chr22:g.51159979G>C (hg19) ; chr22:g.50721551G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721551G>C , CM000684.2:g.50721551G>C	GRCh38
NC_000022.10:g.51159979G>C , CM000684.1:g.51159979G>C	GRCh37
NC_000022.9:g.49506845G>C	NCBI36
NG_008607.2:g.52197G>C
NG_070230.1:g.57335G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3319G>C	ENSP00000489147.2:p.Ala1107Pro
ENST00000414786.7:n.3903G>C
ENST00000445220.7:c.2371G>C	ENSP00000489407.2:p.Ala791Pro
ENST00000664402.2:c.1861G>C	ENSP00000499475.1:p.Ala621Pro
ENST00000673971.2:c.*2317G>C	ENSP00000501192.1:n.*2317G>C
ENST00000445220.6:c.2371G>C	ENSP00000489407.2:p.Ala791Pro
ENST00000262795.6:c.3319G>C	ENSP00000489147.2:p.Ala1107Pro
ENST00000664402.1:c.1861G>C	ENSP00000499475.1:p.Ala621Pro
ENST00000673971.1:c.*2317G>C	ENSP00000501192.1:n.*2317G>C
ENST00000262795.5:c.3715G>C	ENSP00000489147.1:p.Ala1239Pro
ENST00000414786.6:n.3903G>C
ENST00000445220.5:c.3697G>C	ENSP00000489407.1:p.Ala1233Pro