Canonical Allele Identifier: CA2576506237

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144480233

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078511C>T , CM000680.2:g.51078511C>T	GRCh38
NC_000018.9:g.48604881C>T , CM000680.1:g.48604881C>T	GRCh37
NC_000018.8:g.46858879C>T	NCBI36
NG_013013.2:g.115472C>T , LRG_318:g.115472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*44C>T	ENSP00000465878.2:n.*44C>T
ENST00000589076.6:c.*44C>T	ENSP00000466934.2:n.*44C>T
ENST00000589941.2:c.*44C>T	ENSP00000465874.2:n.*44C>T
ENST00000590061.2:c.*44C>T	ENSP00000464772.2:n.*44C>T
ENST00000593223.2:c.*1700C>T	ENSP00000466118.2:n.*1700C>T
ENST00000611848.2:c.*355C>T	ENSP00000478613.2:n.*355C>T
ENST00000684953.1:n.3718C>T
ENST00000685090.1:n.3633C>T
ENST00000685232.1:n.1924C>T
ENST00000688574.1:n.1811C>T
ENST00000691124.1:n.4664C>T
ENST00000342988.8:c.*44C>T MANE Select	ENSP00000341551.3:n.*44C>T
ENST00000342988.7:c.*44C>T	ENSP00000341551.3:n.*44C>T
ENST00000398417.6:c.*44C>T	ENSP00000381452.1:n.*44C>T
ENST00000586253.1:n.425C>T
ENST00000591126.5:n.3704C>T
ENST00000611848.1:c.1016C>T
NM_005359.5:c.*44C>T , LRG_318t1:c.*44C>T	NP_005350.1:n.*44C>T
NM_005359.6:c.*44C>T MANE Select	NP_005350.1:n.*44C>T