Canonical Allele Identifier: CA16620710

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 419212
• ClinVar RCV Id: RCV000480803 ; RCV002231095 ; RCV002313244
• dbSNP Id: rs1064793725
• gnomAD v4: 18-51067138-G-A
• COSMIC: COSM14155
• MyVariant Identifiers: chr18:g.48593508G>A (hg19) ; chr18:g.51067138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067138G>A , CM000680.2:g.51067138G>A	GRCh38
NC_000018.9:g.48593508G>A , CM000680.1:g.48593508G>A	GRCh37
NC_000018.8:g.46847506G>A	NCBI36
NG_013013.2:g.104099G>A , LRG_318:g.104099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1259G>A	ENSP00000465878.2:p.Arg420His
ENST00000589076.6:c.1259G>A	ENSP00000466934.2:p.Arg420His
ENST00000589941.2:c.1259G>A	ENSP00000465874.2:p.Arg420His
ENST00000590061.2:c.1259G>A	ENSP00000464772.2:p.Arg420His
ENST00000593223.2:c.1259G>A	ENSP00000466118.2:p.Arg420His
ENST00000611848.2:c.1259G>A	ENSP00000478613.2:p.Arg420His
ENST00000684953.1:n.2631G>A
ENST00000685090.1:n.1710G>A
ENST00000685232.1:n.1367G>A
ENST00000688574.1:n.1367G>A
ENST00000691124.1:n.2741G>A
ENST00000342988.8:c.1259G>A MANE Select	ENSP00000341551.3:p.Arg420His
ENST00000342988.7:c.1259G>A	ENSP00000341551.3:p.Arg420His
ENST00000398417.6:c.1259G>A	ENSP00000381452.1:p.Arg420His
ENST00000588745.5:c.971G>A	ENSP00000464901.1:p.Arg324His
ENST00000590499.1:n.317G>A
ENST00000591126.5:n.3260G>A
ENST00000592186.5:c.955+7222G>A	ENSP00000468611.1:n.955+7222G>A
ENST00000593223.1:c.26G>A	ENSP00000466118.1:p.Arg9His
ENST00000611848.1:c.459G>A
NM_005359.5:c.1259G>A , LRG_318t1:c.1259G>A	NP_005350.1:p.Arg420His
NM_005359.6:c.1259G>A MANE Select	NP_005350.1:p.Arg420His