Canonical Allele Identifier: CA402465098

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51076638G>A , CM000680.2:g.51076638G>A	GRCh38
NC_000018.9:g.48603008G>A , CM000680.1:g.48603008G>A	GRCh37
NC_000018.8:g.46857006G>A	NCBI36
NG_013013.2:g.113599G>A , LRG_318:g.113599G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005359.6:c.1309G>A MANE Select	NP_005350.1:p.Val437Ile
ENST00000342988.8:c.1309G>A MANE Select	ENSP00000341551.3:p.Val437Ile
NM_005359.5:c.1309G>A , LRG_318t1:c.1309G>A	NP_005350.1:p.Val437Ile
ENST00000342988.7:c.1309G>A	ENSP00000341551.3:p.Val437Ile
ENST00000398417.6:c.1309G>A	ENSP00000381452.1:p.Val437Ile
ENST00000588745.5:c.1021G>A	ENSP00000464901.1:p.Val341Ile
ENST00000588860.6:c.1309G>A	ENSP00000465878.2:p.Val437Ile
ENST00000589076.6:c.1309G>A	ENSP00000466934.2:p.Val437Ile
ENST00000589941.2:c.1309G>A	ENSP00000465874.2:p.Val437Ile
ENST00000590061.2:c.1309G>A	ENSP00000464772.2:p.Val437Ile
ENST00000590499.1:n.367G>A
ENST00000591126.5:n.3310G>A
ENST00000592186.5:c.956G>A	ENSP00000468611.1:p.Gly319Asp
ENST00000593223.1:c.76G>A	ENSP00000466118.1:p.Val26Ile
ENST00000593223.2:c.1309G>A	ENSP00000466118.2:p.Val437Ile
ENST00000611848.1:c.509G>A
ENST00000611848.2:c.1309G>A	ENSP00000478613.2:p.Val437Ile
ENST00000684953.1:n.2681G>A
ENST00000685090.1:n.1760G>A
ENST00000685232.1:n.1417G>A
ENST00000688574.1:n.1417G>A
ENST00000691124.1:n.2791G>A