Canonical Allele Identifier: CA402465823

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078307T>G , CM000680.2:g.51078307T>G	GRCh38
NC_000018.9:g.48604677T>G , CM000680.1:g.48604677T>G	GRCh37
NC_000018.8:g.46858675T>G	NCBI36
NG_013013.2:g.115268T>G , LRG_318:g.115268T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005359.6:c.1499T>G MANE Select	NP_005350.1:p.Ile500Arg
ENST00000342988.8:c.1499T>G MANE Select	ENSP00000341551.3:p.Ile500Arg
NM_005359.5:c.1499T>G , LRG_318t1:c.1499T>G	NP_005350.1:p.Ile500Arg
ENST00000342988.7:c.1499T>G	ENSP00000341551.3:p.Ile500Arg
ENST00000398417.6:c.1499T>G	ENSP00000381452.1:p.Ile500Arg
ENST00000586253.1:n.221T>G
ENST00000588745.5:c.1211T>G	ENSP00000464901.1:p.Ile404Arg
ENST00000588860.6:c.1499T>G	ENSP00000465878.2:p.Ile500Arg
ENST00000589076.6:c.1499T>G	ENSP00000466934.2:p.Ile500Arg
ENST00000589941.2:c.1499T>G	ENSP00000465874.2:p.Ile500Arg
ENST00000590061.2:c.1499T>G	ENSP00000464772.2:p.Ile500Arg
ENST00000591126.5:n.3500T>G
ENST00000592186.5:c.1146T>G	ENSP00000468611.1:n.1146T>G
ENST00000593223.2:c.*1496T>G	ENSP00000466118.2:n.*1496T>G
ENST00000611848.1:c.812T>G
ENST00000611848.2:c.*151T>G	ENSP00000478613.2:n.*151T>G
ENST00000684953.1:n.3514T>G
ENST00000685090.1:n.3429T>G
ENST00000685232.1:n.1720T>G
ENST00000688574.1:n.1607T>G
ENST00000691124.1:n.4460T>G