Canonical Allele Identifier: CA2526883985

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078583G>T , CM000680.2:g.51078583G>T	GRCh38
NC_000018.9:g.48604953G>T , CM000680.1:g.48604953G>T	GRCh37
NC_000018.8:g.46858951G>T	NCBI36
NG_013013.2:g.115544G>T , LRG_318:g.115544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*116G>T	ENSP00000465878.2:n.*116G>T
ENST00000589076.6:c.*116G>T	ENSP00000466934.2:n.*116G>T
ENST00000589941.2:c.*116G>T	ENSP00000465874.2:n.*116G>T
ENST00000590061.2:c.*116G>T	ENSP00000464772.2:n.*116G>T
ENST00000593223.2:c.*1772G>T	ENSP00000466118.2:n.*1772G>T
ENST00000611848.2:c.*427G>T	ENSP00000478613.2:n.*427G>T
ENST00000684953.1:n.3790G>T
ENST00000685090.1:n.3705G>T
ENST00000685232.1:n.1996G>T
ENST00000688574.1:n.1883G>T
ENST00000691124.1:n.4736G>T
ENST00000342988.8:c.*116G>T MANE Select	ENSP00000341551.3:n.*116G>T
ENST00000342988.7:c.*116G>T	ENSP00000341551.3:n.*116G>T
ENST00000398417.6:c.*116G>T	ENSP00000381452.1:n.*116G>T
ENST00000586253.1:n.497G>T
ENST00000591126.5:n.3776G>T
ENST00000611848.1:c.1088G>T
NM_005359.5:c.*116G>T , LRG_318t1:c.*116G>T	NP_005350.1:n.*116G>T
NM_005359.6:c.*116G>T MANE Select	NP_005350.1:n.*116G>T