Canonical Allele Identifier: CA2812466315

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067461G>T , CM000680.2:g.51067461G>T	GRCh38
NC_000018.9:g.48593831G>T , CM000680.1:g.48593831G>T	GRCh37
NC_000018.8:g.46847829G>T	NCBI36
NG_013013.2:g.104422G>T , LRG_318:g.104422G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+274G>T	ENSP00000465878.2:n.1308+274G>T
ENST00000589076.6:c.1308+274G>T	ENSP00000466934.2:n.1308+274G>T
ENST00000589941.2:c.1308+274G>T	ENSP00000465874.2:n.1308+274G>T
ENST00000590061.2:c.1308+274G>T	ENSP00000464772.2:n.1308+274G>T
ENST00000593223.2:c.1308+274G>T	ENSP00000466118.2:n.1308+274G>T
ENST00000611848.2:c.1308+274G>T	ENSP00000478613.2:n.1308+274G>T
ENST00000684953.1:n.2680+274G>T
ENST00000685090.1:n.1759+274G>T
ENST00000685232.1:n.1416+274G>T
ENST00000688574.1:n.1416+274G>T
ENST00000691124.1:n.2790+274G>T
ENST00000342988.8:c.1308+274G>T MANE Select	ENSP00000341551.3:n.1308+274G>T
ENST00000342988.7:c.1308+274G>T	ENSP00000341551.3:n.1308+274G>T
ENST00000398417.6:c.1308+274G>T	ENSP00000381452.1:n.1308+274G>T
ENST00000588745.5:c.1020+274G>T	ENSP00000464901.1:n.1020+274G>T
ENST00000590499.1:n.366+274G>T
ENST00000591126.5:n.3309+274G>T
ENST00000592186.5:c.955+7545G>T	ENSP00000468611.1:n.955+7545G>T
ENST00000593223.1:c.75+274G>T	ENSP00000466118.1:n.75+274G>T
ENST00000611848.1:c.508+274G>T
NM_005359.5:c.1308+274G>T , LRG_318t1:c.1308+274G>T	NP_005350.1:n.1308+274G>T
NM_005359.6:c.1308+274G>T MANE Select	NP_005350.1:n.1308+274G>T