Canonical Allele Identifier: CA515261075

Gene: SHANK3

Linked Data

• dbSNP Id: rs1197891484
• gnomAD v3: 22-50721070-G-C
• gnomAD v4: 22-50721070-G-C
• MyVariant Identifiers: chr22:g.51159498G>C (hg19) ; chr22:g.50721070G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721070G>C , CM000684.2:g.50721070G>C	GRCh38
NC_000022.10:g.51159498G>C , CM000684.1:g.51159498G>C	GRCh37
NC_000022.9:g.49506364G>C	NCBI36
NG_008607.2:g.51716G>C
NG_070230.1:g.56854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2838G>C	ENSP00000489147.2:p.Pro946=
ENST00000414786.7:n.3422G>C
ENST00000445220.7:c.1890G>C	ENSP00000489407.2:p.Pro630=
ENST00000664402.2:c.1380G>C	ENSP00000499475.1:p.Pro460=
ENST00000673971.2:c.*1836G>C	ENSP00000501192.1:n.*1836G>C
ENST00000445220.6:c.1890G>C	ENSP00000489407.2:p.Pro630=
ENST00000262795.6:c.2838G>C	ENSP00000489147.2:p.Pro946=
ENST00000664402.1:c.1380G>C	ENSP00000499475.1:p.Pro460=
ENST00000673971.1:c.*1836G>C	ENSP00000501192.1:n.*1836G>C
ENST00000262795.5:c.3234G>C	ENSP00000489147.1:p.Pro1078=
ENST00000414786.6:n.3422G>C
ENST00000445220.5:c.3216G>C	ENSP00000489407.1:p.Pro1072=