Canonical Allele Identifier: CA402465889

Gene: SMAD4

Linked Data

• MyVariant Identifiers: chr18:g.48604691T>G (hg19) ; chr18:g.51078321T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078321T>G , CM000680.2:g.51078321T>G	GRCh38
NC_000018.9:g.48604691T>G , CM000680.1:g.48604691T>G	GRCh37
NC_000018.8:g.46858689T>G	NCBI36
NG_013013.2:g.115282T>G , LRG_318:g.115282T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1513T>G	ENSP00000465878.2:p.Phe505Val
ENST00000589076.6:c.1513T>G	ENSP00000466934.2:p.Phe505Val
ENST00000589941.2:c.1513T>G	ENSP00000465874.2:p.Phe505Val
ENST00000590061.2:c.1513T>G	ENSP00000464772.2:p.Phe505Val
ENST00000593223.2:c.*1510T>G	ENSP00000466118.2:n.*1510T>G
ENST00000611848.2:c.*165T>G	ENSP00000478613.2:n.*165T>G
ENST00000684953.1:n.3528T>G
ENST00000685090.1:n.3443T>G
ENST00000685232.1:n.1734T>G
ENST00000688574.1:n.1621T>G
ENST00000691124.1:n.4474T>G
ENST00000342988.8:c.1513T>G MANE Select	ENSP00000341551.3:p.Phe505Val
ENST00000342988.7:c.1513T>G	ENSP00000341551.3:p.Phe505Val
ENST00000398417.6:c.1513T>G	ENSP00000381452.1:p.Phe505Val
ENST00000586253.1:n.235T>G
ENST00000588745.5:c.1225T>G	ENSP00000464901.1:p.Phe409Val
ENST00000591126.5:n.3514T>G
ENST00000592186.5:c.1160T>G	ENSP00000468611.1:n.1160T>G
ENST00000611848.1:c.826T>G
NM_005359.5:c.1513T>G , LRG_318t1:c.1513T>G	NP_005350.1:p.Phe505Val
NM_005359.6:c.1513T>G MANE Select	NP_005350.1:p.Phe505Val