Canonical Allele Identifier: CA2302986908
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078353A= , CM000680.2:g.51078353A= GRCh38
NC_000018.9:g.48604723A= , CM000680.1:g.48604723A= GRCh37
NC_000018.8:g.46858721A= NCBI36
NG_013013.2:g.115314A= , LRG_318:g.115314A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1545A= ENSP00000465878.2:p.Arg515=
ENST00000589076.6:c.1545A= ENSP00000466934.2:p.Arg515=
ENST00000589941.2:c.1545A= ENSP00000465874.2:p.Arg515=
ENST00000590061.2:c.1545A= ENSP00000464772.2:p.Arg515=
ENST00000593223.2:c.*1542A= ENSP00000466118.2:n.*1542A=
ENST00000611848.2:c.*197A= ENSP00000478613.2:n.*197A=
ENST00000684953.1:n.3560A=
ENST00000685090.1:n.3475A=
ENST00000685232.1:n.1766A=
ENST00000688574.1:n.1653A=
ENST00000691124.1:n.4506A=
ENST00000342988.8:c.1545A= MANE Select ENSP00000341551.3:p.Arg515=
ENST00000342988.7:c.1545A= ENSP00000341551.3:p.Arg515=
ENST00000398417.6:c.1545A= ENSP00000381452.1:p.Arg515=
ENST00000586253.1:n.267A=
ENST00000588745.5:c.1257A= ENSP00000464901.1:p.Arg419=
ENST00000591126.5:n.3546A=
ENST00000592186.5:c.1192A= ENSP00000468611.1:n.1192A=
ENST00000611848.1:c.858A=
NM_005359.5:c.1545A= , LRG_318t1:c.1545A= NP_005350.1:p.Arg515=
NM_005359.6:c.1545A= MANE Select NP_005350.1:p.Arg515=