Canonical Allele Identifier: CA402466249

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078467A>C , CM000680.2:g.51078467A>C	GRCh38
NC_000018.9:g.48604837A>C , CM000680.1:g.48604837A>C	GRCh37
NC_000018.8:g.46858835A>C	NCBI36
NG_013013.2:g.115428A>C , LRG_318:g.115428A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005359.6:c.1659A>C MANE Select	NP_005350.1:p.Ter553Cys
ENST00000342988.8:c.1659A>C MANE Select	ENSP00000341551.3:p.Ter553Cys
NM_005359.5:c.1659A>C , LRG_318t1:c.1659A>C	NP_005350.1:p.Ter553Cys
ENST00000342988.7:c.1659A>C	ENSP00000341551.3:p.Ter553Cys
ENST00000398417.6:c.1659A>C	ENSP00000381452.1:p.Ter553Cys
ENST00000586253.1:n.381A>C
ENST00000588745.5:c.1371A>C	ENSP00000464901.1:p.Ter457Cys
ENST00000588860.6:c.1659A>C	ENSP00000465878.2:p.Ter553Cys
ENST00000589076.6:c.1659A>C	ENSP00000466934.2:p.Ter553Cys
ENST00000589941.2:c.1659A>C	ENSP00000465874.2:p.Ter553Cys
ENST00000590061.2:c.1659A>C	ENSP00000464772.2:p.Ter553Cys
ENST00000591126.5:n.3660A>C
ENST00000592186.5:c.1306A>C	ENSP00000468611.1:n.1306A>C
ENST00000593223.2:c.*1656A>C	ENSP00000466118.2:n.*1656A>C
ENST00000611848.1:c.972A>C
ENST00000611848.2:c.*311A>C	ENSP00000478613.2:n.*311A>C
ENST00000684953.1:n.3674A>C
ENST00000685090.1:n.3589A>C
ENST00000685232.1:n.1880A>C
ENST00000688574.1:n.1767A>C
ENST00000691124.1:n.4620A>C