Canonical Allele Identifier: CA402466030

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 819528
• ClinVar RCV Id: RCV002551756 ; RCV002319162
• dbSNP Id: rs1599205419
• gnomAD v4: 18-51078366-G-C
• MyVariant Identifiers: chr18:g.48604736G>C (hg19) ; chr18:g.51078366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078366G>C , CM000680.2:g.51078366G>C	GRCh38
NC_000018.9:g.48604736G>C , CM000680.1:g.48604736G>C	GRCh37
NC_000018.8:g.46858734G>C	NCBI36
NG_013013.2:g.115327G>C , LRG_318:g.115327G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1558G>C	ENSP00000465878.2:p.Glu520Gln
ENST00000589076.6:c.1558G>C	ENSP00000466934.2:p.Glu520Gln
ENST00000589941.2:c.1558G>C	ENSP00000465874.2:p.Glu520Gln
ENST00000590061.2:c.1558G>C	ENSP00000464772.2:p.Glu520Gln
ENST00000593223.2:c.*1555G>C	ENSP00000466118.2:n.*1555G>C
ENST00000611848.2:c.*210G>C	ENSP00000478613.2:n.*210G>C
ENST00000684953.1:n.3573G>C
ENST00000685090.1:n.3488G>C
ENST00000685232.1:n.1779G>C
ENST00000688574.1:n.1666G>C
ENST00000691124.1:n.4519G>C
ENST00000342988.8:c.1558G>C MANE Select	ENSP00000341551.3:p.Glu520Gln
ENST00000342988.7:c.1558G>C	ENSP00000341551.3:p.Glu520Gln
ENST00000398417.6:c.1558G>C	ENSP00000381452.1:p.Glu520Gln
ENST00000586253.1:n.280G>C
ENST00000588745.5:c.1270G>C	ENSP00000464901.1:p.Glu424Gln
ENST00000591126.5:n.3559G>C
ENST00000592186.5:c.1205G>C	ENSP00000468611.1:n.1205G>C
ENST00000611848.1:c.871G>C
NM_005359.5:c.1558G>C , LRG_318t1:c.1558G>C	NP_005350.1:p.Glu520Gln
NM_005359.6:c.1558G>C MANE Select	NP_005350.1:p.Glu520Gln