Canonical Allele Identifier: CA515263211

Gene: SHANK3

Linked Data

• dbSNP Id: rs1337768420
• gnomAD v4: 22-50721688-G-C
• MyVariant Identifiers: chr22:g.51160116G>C (hg19) ; chr22:g.50721688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721688G>C , CM000684.2:g.50721688G>C	GRCh38
NC_000022.10:g.51160116G>C , CM000684.1:g.51160116G>C	GRCh37
NC_000022.9:g.49506982G>C	NCBI36
NG_008607.2:g.52334G>C
NG_070230.1:g.57472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3456G>C	ENSP00000489147.2:p.Leu1152=
ENST00000414786.7:n.4040G>C
ENST00000445220.7:c.2508G>C	ENSP00000489407.2:p.Leu836=
ENST00000664402.2:c.1998G>C	ENSP00000499475.1:p.Leu666=
ENST00000673971.2:c.*2454G>C	ENSP00000501192.1:n.*2454G>C
ENST00000445220.6:c.2508G>C	ENSP00000489407.2:p.Leu836=
ENST00000262795.6:c.3456G>C	ENSP00000489147.2:p.Leu1152=
ENST00000664402.1:c.1998G>C	ENSP00000499475.1:p.Leu666=
ENST00000673971.1:c.*2454G>C	ENSP00000501192.1:n.*2454G>C
ENST00000262795.5:c.3852G>C	ENSP00000489147.1:p.Leu1284=
ENST00000414786.6:n.4040G>C
ENST00000445220.5:c.3834G>C	ENSP00000489407.1:p.Leu1278=