Canonical Allele Identifier: CA640358913
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs1251031808
gnomAD v2: 22-51135877-C-G
gnomAD v3: 22-50697449-C-G
gnomAD v4: 22-50697449-C-G
MyVariant Identifiers: chr22:g.51135877C>G (hg19) chr22:g.50697449C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697449C>G , CM000684.2:g.50697449C>G GRCh38
NC_000022.10:g.51135877C>G , CM000684.1:g.51135877C>G GRCh37
NC_000022.9:g.49482743C>G NCBI36
NG_008607.2:g.27808C>G
NG_070230.1:g.33027C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-115C>G ENSP00000489147.2:n.948-115C>G
ENST00000414786.7:n.1532-115C>G
ENST00000673971.2:c.1305-115C>G ENSP00000501192.1:n.1305-115C>G
ENST00000262795.6:c.948-115C>G ENSP00000489147.2:n.948-115C>G
ENST00000673971.1:c.1305-115C>G ENSP00000501192.1:n.1305-115C>G
ENST00000262795.5:c.1345-116C>G ENSP00000489147.1:n.1345-116C>G
ENST00000414786.6:n.1532-115C>G
ENST00000445220.5:c.1326-115C>G ENSP00000489407.1:n.1326-115C>G
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