Canonical Allele Identifier: CA515261253

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1695054
• ClinVar RCV Id: RCV002263304
• dbSNP Id: rs1385920913
• gnomAD v4: 22-50721134-C-G
• MyVariant Identifiers: chr22:g.51159562C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721134C>G , CM000684.2:g.50721134C>G	GRCh38
NC_000022.10:g.51159562C>G , CM000684.1:g.51159562C>G	GRCh37
NC_000022.9:g.49506428C>G	NCBI36
NG_008607.2:g.51780C>G
NG_070230.1:g.56918C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2902C>G	ENSP00000489147.2:p.Pro968Ala
ENST00000414786.7:n.3486C>G
ENST00000445220.7:c.1954C>G	ENSP00000489407.2:p.Pro652Ala
ENST00000664402.2:c.1444C>G	ENSP00000499475.1:p.Pro482Ala
ENST00000673971.2:c.*1900C>G	ENSP00000501192.1:n.*1900C>G
ENST00000445220.6:c.1954C>G	ENSP00000489407.2:p.Pro652Ala
ENST00000262795.6:c.2902C>G	ENSP00000489147.2:p.Pro968Ala
ENST00000664402.1:c.1444C>G	ENSP00000499475.1:p.Pro482Ala
ENST00000673971.1:c.*1900C>G	ENSP00000501192.1:n.*1900C>G
ENST00000262795.5:c.3298C>G	ENSP00000489147.1:p.Pro1100Ala
ENST00000414786.6:n.3486C>G
ENST00000445220.5:c.3280C>G	ENSP00000489407.1:p.Pro1094Ala