Canonical Allele Identifier: CA515262622

Gene: SHANK3

Linked Data

• dbSNP Id: rs770295872
• gnomAD v2: 22-51159919-G-C
• gnomAD v4: 22-50721491-G-C
• MyVariant Identifiers: chr22:g.51159919G>C (hg19) ; chr22:g.50721491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721491G>C , CM000684.2:g.50721491G>C	GRCh38
NC_000022.10:g.51159919G>C , CM000684.1:g.51159919G>C	GRCh37
NC_000022.9:g.49506785G>C	NCBI36
NG_008607.2:g.52137G>C
NG_070230.1:g.57275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3259G>C	ENSP00000489147.2:p.Glu1087Gln
ENST00000414786.7:n.3843G>C
ENST00000445220.7:c.2311G>C	ENSP00000489407.2:p.Glu771Gln
ENST00000664402.2:c.1801G>C	ENSP00000499475.1:p.Glu601Gln
ENST00000673971.2:c.*2257G>C	ENSP00000501192.1:n.*2257G>C
ENST00000445220.6:c.2311G>C	ENSP00000489407.2:p.Glu771Gln
ENST00000262795.6:c.3259G>C	ENSP00000489147.2:p.Glu1087Gln
ENST00000664402.1:c.1801G>C	ENSP00000499475.1:p.Glu601Gln
ENST00000673971.1:c.*2257G>C	ENSP00000501192.1:n.*2257G>C
ENST00000262795.5:c.3655G>C	ENSP00000489147.1:p.Glu1219Gln
ENST00000414786.6:n.3843G>C
ENST00000445220.5:c.3637G>C	ENSP00000489407.1:p.Glu1213Gln