Canonical Allele Identifier: CA515261025

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1710808
• ClinVar RCV Id: RCV002292095 ; RCV003230743
• dbSNP Id: rs763812714
• gnomAD v4: 22-50721051-C-T
• MyVariant Identifiers: chr22:g.51159479C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721051C>T , CM000684.2:g.50721051C>T	GRCh38
NC_000022.10:g.51159479C>T , CM000684.1:g.51159479C>T	GRCh37
NC_000022.9:g.49506345C>T	NCBI36
NG_008607.2:g.51697C>T
NG_070230.1:g.56835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2819C>T	ENSP00000489147.2:p.Pro940Leu
ENST00000414786.7:n.3403C>T
ENST00000445220.7:c.1871C>T	ENSP00000489407.2:p.Pro624Leu
ENST00000664402.2:c.1361C>T	ENSP00000499475.1:p.Pro454Leu
ENST00000673971.2:c.*1817C>T	ENSP00000501192.1:n.*1817C>T
ENST00000445220.6:c.1871C>T	ENSP00000489407.2:p.Pro624Leu
ENST00000262795.6:c.2819C>T	ENSP00000489147.2:p.Pro940Leu
ENST00000664402.1:c.1361C>T	ENSP00000499475.1:p.Pro454Leu
ENST00000673971.1:c.*1817C>T	ENSP00000501192.1:n.*1817C>T
ENST00000262795.5:c.3215C>T	ENSP00000489147.1:p.Pro1072Leu
ENST00000414786.6:n.3403C>T
ENST00000445220.5:c.3197C>T	ENSP00000489407.1:p.Pro1066Leu