Canonical Allele Identifier: CA2302986765
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078039C= , CM000680.2:g.51078039C= GRCh38
NC_000018.9:g.48604409C= , CM000680.1:g.48604409C= GRCh37
NC_000018.8:g.46858407C= NCBI36
NG_013013.2:g.115000C= , LRG_318:g.115000C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1448-217C= ENSP00000465878.2:n.1448-217C=
ENST00000589076.6:c.1448-217C= ENSP00000466934.2:n.1448-217C=
ENST00000589941.2:c.1448-217C= ENSP00000465874.2:n.1448-217C=
ENST00000590061.2:c.1448-217C= ENSP00000464772.2:n.1448-217C=
ENST00000593223.2:c.*1228C= ENSP00000466118.2:n.*1228C=
ENST00000611848.2:c.*100-217C= ENSP00000478613.2:n.*100-217C=
ENST00000684953.1:n.3463-217C=
ENST00000685090.1:n.3161C=
ENST00000685232.1:n.1669-217C=
ENST00000688574.1:n.1556-217C=
ENST00000691124.1:n.4192C=
ENST00000342988.8:c.1448-217C= MANE Select ENSP00000341551.3:n.1448-217C=
ENST00000342988.7:c.1448-217C= ENSP00000341551.3:n.1448-217C=
ENST00000398417.6:c.1448-217C= ENSP00000381452.1:n.1448-217C=
ENST00000586253.1:n.170-217C=
ENST00000588745.5:c.1160-217C= ENSP00000464901.1:n.1160-217C=
ENST00000591126.5:n.3449-217C=
ENST00000592186.5:c.1095-217C= ENSP00000468611.1:n.1095-217C=
ENST00000611848.1:c.761-217C=
NM_005359.5:c.1448-217C= , LRG_318t1:c.1448-217C= NP_005350.1:n.1448-217C=
NM_005359.6:c.1448-217C= MANE Select NP_005350.1:n.1448-217C=