Canonical Allele Identifier: CA2302986947

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078406T= , CM000680.2:g.51078406T=	GRCh38
NC_000018.9:g.48604776T= , CM000680.1:g.48604776T=	GRCh37
NC_000018.8:g.46858774T=	NCBI36
NG_013013.2:g.115367T= , LRG_318:g.115367T=

Transcript Alleles

HGVS	Amino-acid Change
NM_005359.6:c.1598T= MANE Select	NP_005350.1:p.Leu533=
ENST00000342988.8:c.1598T= MANE Select	ENSP00000341551.3:p.Leu533=
NM_005359.5:c.1598T= , LRG_318t1:c.1598T=	NP_005350.1:p.Leu533=
ENST00000342988.7:c.1598T=	ENSP00000341551.3:p.Leu533=
ENST00000398417.6:c.1598T=	ENSP00000381452.1:p.Leu533=
ENST00000586253.1:n.320T=
ENST00000588745.5:c.1310T=	ENSP00000464901.1:p.Leu437=
ENST00000588860.6:c.1598T=	ENSP00000465878.2:p.Leu533=
ENST00000589076.6:c.1598T=	ENSP00000466934.2:p.Leu533=
ENST00000589941.2:c.1598T=	ENSP00000465874.2:p.Leu533=
ENST00000590061.2:c.1598T=	ENSP00000464772.2:p.Leu533=
ENST00000591126.5:n.3599T=
ENST00000592186.5:c.1245T=	ENSP00000468611.1:n.1245T=
ENST00000593223.2:c.*1595T=	ENSP00000466118.2:n.*1595T=
ENST00000611848.1:c.911T=
ENST00000611848.2:c.*250T=	ENSP00000478613.2:n.*250T=
ENST00000684953.1:n.3613T=
ENST00000685090.1:n.3528T=
ENST00000685232.1:n.1819T=
ENST00000688574.1:n.1706T=
ENST00000691124.1:n.4559T=