Canonical Allele Identifier: CA2302986891

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078323T= , CM000680.2:g.51078323T=	GRCh38
NC_000018.9:g.48604693T= , CM000680.1:g.48604693T=	GRCh37
NC_000018.8:g.46858691T=	NCBI36
NG_013013.2:g.115284T= , LRG_318:g.115284T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1515T=	ENSP00000465878.2:p.Phe505=
ENST00000589076.6:c.1515T=	ENSP00000466934.2:p.Phe505=
ENST00000589941.2:c.1515T=	ENSP00000465874.2:p.Phe505=
ENST00000590061.2:c.1515T=	ENSP00000464772.2:p.Phe505=
ENST00000593223.2:c.*1512T=	ENSP00000466118.2:n.*1512T=
ENST00000611848.2:c.*167T=	ENSP00000478613.2:n.*167T=
ENST00000684953.1:n.3530T=
ENST00000685090.1:n.3445T=
ENST00000685232.1:n.1736T=
ENST00000688574.1:n.1623T=
ENST00000691124.1:n.4476T=
ENST00000342988.8:c.1515T= MANE Select	ENSP00000341551.3:p.Phe505=
ENST00000342988.7:c.1515T=	ENSP00000341551.3:p.Phe505=
ENST00000398417.6:c.1515T=	ENSP00000381452.1:p.Phe505=
ENST00000586253.1:n.237T=
ENST00000588745.5:c.1227T=	ENSP00000464901.1:p.Phe409=
ENST00000591126.5:n.3516T=
ENST00000592186.5:c.1162T=	ENSP00000468611.1:n.1162T=
ENST00000611848.1:c.828T=
NM_005359.5:c.1515T= , LRG_318t1:c.1515T=	NP_005350.1:p.Phe505=
NM_005359.6:c.1515T= MANE Select	NP_005350.1:p.Phe505=