Canonical Allele Identifier: CA2302987061
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078651C= , CM000680.2:g.51078651C= GRCh38
NC_000018.9:g.48605021C= , CM000680.1:g.48605021C= GRCh37
NC_000018.8:g.46859019C= NCBI36
NG_013013.2:g.115612C= , LRG_318:g.115612C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.*184C= ENSP00000465878.2:n.*184C=
ENST00000589076.6:c.*184C= ENSP00000466934.2:n.*184C=
ENST00000589941.2:c.*184C= ENSP00000465874.2:n.*184C=
ENST00000590061.2:c.*184C= ENSP00000464772.2:n.*184C=
ENST00000593223.2:c.*1840C= ENSP00000466118.2:n.*1840C=
ENST00000611848.2:c.*495C= ENSP00000478613.2:n.*495C=
ENST00000684953.1:n.3858C=
ENST00000685090.1:n.3773C=
ENST00000685232.1:n.2064C=
ENST00000688574.1:n.1951C=
ENST00000691124.1:n.4804C=
ENST00000342988.8:c.*184C= MANE Select ENSP00000341551.3:n.*184C=
ENST00000342988.7:c.*184C= ENSP00000341551.3:n.*184C=
ENST00000398417.6:c.*184C= ENSP00000381452.1:n.*184C=
ENST00000586253.1:n.565C=
ENST00000591126.5:n.3844C=
ENST00000611848.1:c.1156C=
NM_005359.5:c.*184C= , LRG_318t1:c.*184C= NP_005350.1:n.*184C=
NM_005359.6:c.*184C= MANE Select NP_005350.1:n.*184C=