Canonical Allele Identifier: CA1026687934

Gene: SHANK3

Linked Data

• dbSNP Id: rs73431408
• gnomAD v3: 22-50697902-C-G
• gnomAD v4: 22-50697902-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697902C>G , CM000684.2:g.50697902C>G	GRCh38
NC_000022.10:g.51136330C>G , CM000684.1:g.51136330C>G	GRCh37
NC_000022.9:g.49483196C>G	NCBI36
NG_008607.2:g.28548C>G
NG_070230.1:g.33766C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+187C>G	ENSP00000489147.2:n.1099+187C>G
ENST00000414786.7:n.1683+187C>G
ENST00000445220.7:c.151+187C>G	ENSP00000489407.2:n.151+187C>G
ENST00000673971.2:c.1456+187C>G	ENSP00000501192.1:n.1456+187C>G
ENST00000445220.6:c.151+187C>G	ENSP00000489407.2:n.151+187C>G
ENST00000262795.6:c.1099+187C>G	ENSP00000489147.2:n.1099+187C>G
ENST00000673971.1:c.1456+187C>G	ENSP00000501192.1:n.1456+187C>G
ENST00000673995.1:c.152+187C>G
ENST00000262795.5:c.1495+187C>G	ENSP00000489147.1:n.1495+187C>G
ENST00000414786.6:n.1683+187C>G
ENST00000445220.5:c.1477+187C>G	ENSP00000489407.1:n.1477+187C>G