Canonical Allele Identifier: CA2501165142

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078480T>G , CM000680.2:g.51078480T>G	GRCh38
NC_000018.9:g.48604850T>G , CM000680.1:g.48604850T>G	GRCh37
NC_000018.8:g.46858848T>G	NCBI36
NG_013013.2:g.115441T>G , LRG_318:g.115441T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*13T>G	ENSP00000465878.2:n.*13T>G
ENST00000589076.6:c.*13T>G	ENSP00000466934.2:n.*13T>G
ENST00000589941.2:c.*13T>G	ENSP00000465874.2:n.*13T>G
ENST00000590061.2:c.*13T>G	ENSP00000464772.2:n.*13T>G
ENST00000593223.2:c.*1669T>G	ENSP00000466118.2:n.*1669T>G
ENST00000611848.2:c.*324T>G	ENSP00000478613.2:n.*324T>G
ENST00000684953.1:n.3687T>G
ENST00000685090.1:n.3602T>G
ENST00000685232.1:n.1893T>G
ENST00000688574.1:n.1780T>G
ENST00000691124.1:n.4633T>G
ENST00000342988.8:c.*13T>G MANE Select	ENSP00000341551.3:n.*13T>G
ENST00000342988.7:c.*13T>G	ENSP00000341551.3:n.*13T>G
ENST00000398417.6:c.*13T>G	ENSP00000381452.1:n.*13T>G
ENST00000586253.1:n.394T>G
ENST00000591126.5:n.3673T>G
ENST00000611848.1:c.985T>G
NM_005359.5:c.*13T>G , LRG_318t1:c.*13T>G	NP_005350.1:n.*13T>G
NM_005359.6:c.*13T>G MANE Select	NP_005350.1:n.*13T>G