Canonical Allele Identifier: CA2735225047

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144477306

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078054G>A , CM000680.2:g.51078054G>A	GRCh38
NC_000018.9:g.48604424G>A , CM000680.1:g.48604424G>A	GRCh37
NC_000018.8:g.46858422G>A	NCBI36
NG_013013.2:g.115015G>A , LRG_318:g.115015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1448-202G>A	ENSP00000465878.2:n.1448-202G>A
ENST00000589076.6:c.1448-202G>A	ENSP00000466934.2:n.1448-202G>A
ENST00000589941.2:c.1448-202G>A	ENSP00000465874.2:n.1448-202G>A
ENST00000590061.2:c.1448-202G>A	ENSP00000464772.2:n.1448-202G>A
ENST00000593223.2:c.*1243G>A	ENSP00000466118.2:n.*1243G>A
ENST00000611848.2:c.*100-202G>A	ENSP00000478613.2:n.*100-202G>A
ENST00000684953.1:n.3463-202G>A
ENST00000685090.1:n.3176G>A
ENST00000685232.1:n.1669-202G>A
ENST00000688574.1:n.1556-202G>A
ENST00000691124.1:n.4207G>A
ENST00000342988.8:c.1448-202G>A MANE Select	ENSP00000341551.3:n.1448-202G>A
ENST00000342988.7:c.1448-202G>A	ENSP00000341551.3:n.1448-202G>A
ENST00000398417.6:c.1448-202G>A	ENSP00000381452.1:n.1448-202G>A
ENST00000586253.1:n.170-202G>A
ENST00000588745.5:c.1160-202G>A	ENSP00000464901.1:n.1160-202G>A
ENST00000591126.5:n.3449-202G>A
ENST00000592186.5:c.1095-202G>A	ENSP00000468611.1:n.1095-202G>A
ENST00000611848.1:c.761-202G>A
NM_005359.5:c.1448-202G>A , LRG_318t1:c.1448-202G>A	NP_005350.1:n.1448-202G>A
NM_005359.6:c.1448-202G>A MANE Select	NP_005350.1:n.1448-202G>A