Canonical Allele Identifier: CA645372667

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 432387
• ClinVar RCV Id: RCV000498215
• dbSNP Id: rs1555908702
• MyVariant Identifiers: chr22:g.51143164A>C (hg19) ; chr22:g.50704736A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50704736A>C , CM000684.2:g.50704736A>C	GRCh38
NC_000022.10:g.51143164A>C , CM000684.1:g.51143164A>C	GRCh37
NC_000022.9:g.49490030A>C	NCBI36
NG_008607.2:g.35382A>C
NG_070230.1:g.40601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1373-2A>C	ENSP00000489147.2:n.1373-2A>C
ENST00000414786.7:n.1957-2A>C
ENST00000445220.7:c.425-2A>C	ENSP00000489407.2:n.425-2A>C
ENST00000673971.2:c.1730-2A>C	ENSP00000501192.1:n.1730-2A>C
ENST00000445220.6:c.425-2A>C	ENSP00000489407.2:n.425-2A>C
ENST00000262795.6:c.1373-2A>C	ENSP00000489147.2:n.1373-2A>C
ENST00000673971.1:c.1730-2A>C	ENSP00000501192.1:n.1730-2A>C
ENST00000262795.5:c.1769-2A>C	ENSP00000489147.1:n.1769-2A>C
ENST00000414786.6:n.1957-2A>C
ENST00000445220.5:c.1751-2A>C	ENSP00000489407.1:n.1751-2A>C