Canonical Allele Identifier: CA2302981679
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067408A= , CM000680.2:g.51067408A= GRCh38
NC_000018.9:g.48593778A= , CM000680.1:g.48593778A= GRCh37
NC_000018.8:g.46847776A= NCBI36
NG_013013.2:g.104369A= , LRG_318:g.104369A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1308+221A= ENSP00000465878.2:n.1308+221A=
ENST00000589076.6:c.1308+221A= ENSP00000466934.2:n.1308+221A=
ENST00000589941.2:c.1308+221A= ENSP00000465874.2:n.1308+221A=
ENST00000590061.2:c.1308+221A= ENSP00000464772.2:n.1308+221A=
ENST00000593223.2:c.1308+221A= ENSP00000466118.2:n.1308+221A=
ENST00000611848.2:c.1308+221A= ENSP00000478613.2:n.1308+221A=
ENST00000684953.1:n.2680+221A=
ENST00000685090.1:n.1759+221A=
ENST00000685232.1:n.1416+221A=
ENST00000688574.1:n.1416+221A=
ENST00000691124.1:n.2790+221A=
ENST00000342988.8:c.1308+221A= MANE Select ENSP00000341551.3:n.1308+221A=
ENST00000342988.7:c.1308+221A= ENSP00000341551.3:n.1308+221A=
ENST00000398417.6:c.1308+221A= ENSP00000381452.1:n.1308+221A=
ENST00000588745.5:c.1020+221A= ENSP00000464901.1:n.1020+221A=
ENST00000590499.1:n.366+221A=
ENST00000591126.5:n.3309+221A=
ENST00000592186.5:c.955+7492A= ENSP00000468611.1:n.955+7492A=
ENST00000593223.1:c.75+221A= ENSP00000466118.1:n.75+221A=
ENST00000611848.1:c.508+221A=
NM_005359.5:c.1308+221A= , LRG_318t1:c.1308+221A= NP_005350.1:n.1308+221A=
NM_005359.6:c.1308+221A= MANE Select NP_005350.1:n.1308+221A=