Canonical Allele Identifier: CA16621139

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 419375
• ClinVar RCV Id: RCV000479427 ; RCV002323822
• dbSNP Id: rs1064793828
• gnomAD v2: 22-51159389-A-C
• gnomAD v3: 22-50720961-A-C
• gnomAD v4: 22-50720961-A-C
• MyVariant Identifiers: chr22:g.51159389A>C (hg19) ; chr22:g.50720961A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720961A>C , CM000684.2:g.50720961A>C	GRCh38
NC_000022.10:g.51159389A>C , CM000684.1:g.51159389A>C	GRCh37
NC_000022.9:g.49506255A>C	NCBI36
NG_008607.2:g.51607A>C
NG_070230.1:g.56745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2729A>C	ENSP00000489147.2:p.Asp910Ala
ENST00000414786.7:n.3313A>C
ENST00000445220.7:c.1781A>C	ENSP00000489407.2:p.Asp594Ala
ENST00000664402.2:c.1271A>C	ENSP00000499475.1:p.Asp424Ala
ENST00000673971.2:c.*1727A>C	ENSP00000501192.1:n.*1727A>C
ENST00000445220.6:c.1781A>C	ENSP00000489407.2:p.Asp594Ala
ENST00000262795.6:c.2729A>C	ENSP00000489147.2:p.Asp910Ala
ENST00000664402.1:c.1271A>C	ENSP00000499475.1:p.Asp424Ala
ENST00000673971.1:c.*1727A>C	ENSP00000501192.1:n.*1727A>C
ENST00000262795.5:c.3125A>C	ENSP00000489147.1:p.Asp1042Ala
ENST00000414786.6:n.3313A>C
ENST00000445220.5:c.3107A>C	ENSP00000489407.1:p.Asp1036Ala