Canonical Allele Identifier: CA325579002

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2228655
• ClinVar RCV Id: RCV002692166 ; RCV003108167
• dbSNP Id: rs1024119044
• gnomAD v2: 22-51159748-C-T
• gnomAD v3: 22-50721320-C-T
• gnomAD v4: 22-50721320-C-T
• MyVariant Identifiers: chr22:g.51159748C>T (hg19) ; chr22:g.50721320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721320C>T , CM000684.2:g.50721320C>T	GRCh38
NC_000022.10:g.51159748C>T , CM000684.1:g.51159748C>T	GRCh37
NC_000022.9:g.49506614C>T	NCBI36
NG_008607.2:g.51966C>T
NG_070230.1:g.57104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3088C>T	ENSP00000489147.2:p.Pro1030Ser
ENST00000414786.7:n.3672C>T
ENST00000445220.7:c.2140C>T	ENSP00000489407.2:p.Pro714Ser
ENST00000664402.2:c.1630C>T	ENSP00000499475.1:p.Pro544Ser
ENST00000673971.2:c.*2086C>T	ENSP00000501192.1:n.*2086C>T
ENST00000445220.6:c.2140C>T	ENSP00000489407.2:p.Pro714Ser
ENST00000262795.6:c.3088C>T	ENSP00000489147.2:p.Pro1030Ser
ENST00000664402.1:c.1630C>T	ENSP00000499475.1:p.Pro544Ser
ENST00000673971.1:c.*2086C>T	ENSP00000501192.1:n.*2086C>T
ENST00000262795.5:c.3484C>T	ENSP00000489147.1:p.Pro1162Ser
ENST00000414786.6:n.3672C>T
ENST00000445220.5:c.3466C>T	ENSP00000489407.1:p.Pro1156Ser