Canonical Allele Identifier: CA913188933

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 627686
• ClinVar RCV Id: RCV000771349
• dbSNP Id: rs1568206030

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058132_51058133delinsCC , CM000680.2:g.51058132_51058133delinsCC	GRCh38
NC_000018.9:g.48584502_48584503delinsCC , CM000680.1:g.48584502_48584503delinsCC	GRCh37
NC_000018.8:g.46838500_46838501delinsCC	NCBI36
NG_013013.2:g.95093_95094delinsCC , LRG_318:g.95093_95094delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.675_676delinsCC	ENSP00000465878.2:p.Ala226Pro
ENST00000589076.6:c.675_676delinsCC	ENSP00000466934.2:p.Ala226Pro
ENST00000589941.2:c.675_676delinsCC	ENSP00000465874.2:p.Ala226Pro
ENST00000590061.2:c.675_676delinsCC	ENSP00000464772.2:p.Ala226Pro
ENST00000593223.2:c.675_676delinsCC	ENSP00000466118.2:p.Ala226Pro
ENST00000611848.2:c.675_676delinsCC	ENSP00000478613.2:p.Ala226Pro
ENST00000684953.1:n.2047_2048delinsCC
ENST00000685232.1:n.783_784delinsCC
ENST00000688307.1:n.156-1734_156-1733delinsCC
ENST00000688574.1:n.783_784delinsCC
ENST00000688903.1:n.889_890delinsCC
ENST00000690892.1:n.783_784delinsCC
ENST00000342988.8:c.675_676delinsCC MANE Select	ENSP00000341551.3:p.Ala226Pro
ENST00000342988.7:c.675_676delinsCC	ENSP00000341551.3:p.Ala226Pro
ENST00000398417.6:c.675_676delinsCC	ENSP00000381452.1:p.Ala226Pro
ENST00000588745.5:c.667+3139_667+3140delinsCC	ENSP00000464901.1:n.667+3139_667+3140delinsCC
ENST00000590722.2:c.*851_*852delinsCC	ENSP00000465737.1:n.*851_*852delinsCC
ENST00000591126.5:n.2676_2677delinsCC
ENST00000592186.5:c.675_676delinsCC	ENSP00000468611.1:p.Ala226Pro
ENST00000592911.5:n.453_454delinsCC
NM_005359.5:c.675_676delinsCC , LRG_318t1:c.675_676delinsCC	NP_005350.1:p.Ala226Pro
NM_005359.6:c.675_676delinsCC MANE Select	NP_005350.1:p.Ala226Pro