Canonical Allele Identifier: CA515259336

Gene: SHANK3

Linked Data

• dbSNP Id: rs1391389208
• gnomAD v4: 22-50720462-C-T
• MyVariant Identifiers: chr22:g.51158890C>T (hg19) ; chr22:g.50720462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720462C>T , CM000684.2:g.50720462C>T	GRCh38
NC_000022.10:g.51158890C>T , CM000684.1:g.51158890C>T	GRCh37
NC_000022.9:g.49505756C>T	NCBI36
NG_008607.2:g.51108C>T
NG_070230.1:g.56246C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2230C>T	ENSP00000489147.2:p.Leu744Phe
ENST00000414786.7:n.2814C>T
ENST00000445220.7:c.1282C>T	ENSP00000489407.2:p.Leu428Phe
ENST00000664402.2:c.772C>T	ENSP00000499475.1:p.Leu258Phe
ENST00000673971.2:c.*1228C>T	ENSP00000501192.1:n.*1228C>T
ENST00000445220.6:c.1282C>T	ENSP00000489407.2:p.Leu428Phe
ENST00000262795.6:c.2230C>T	ENSP00000489147.2:p.Leu744Phe
ENST00000664402.1:c.772C>T	ENSP00000499475.1:p.Leu258Phe
ENST00000673971.1:c.*1228C>T	ENSP00000501192.1:n.*1228C>T
ENST00000262795.5:c.2626C>T	ENSP00000489147.1:p.Leu876Phe
ENST00000414786.6:n.2814C>T
ENST00000445220.5:c.2608C>T	ENSP00000489407.1:p.Leu870Phe