Canonical Allele Identifier: CA2302986785
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078090G= , CM000680.2:g.51078090G= GRCh38
NC_000018.9:g.48604460G= , CM000680.1:g.48604460G= GRCh37
NC_000018.8:g.46858458G= NCBI36
NG_013013.2:g.115051G= , LRG_318:g.115051G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1448-166G= ENSP00000465878.2:n.1448-166G=
ENST00000589076.6:c.1448-166G= ENSP00000466934.2:n.1448-166G=
ENST00000589941.2:c.1448-166G= ENSP00000465874.2:n.1448-166G=
ENST00000590061.2:c.1448-166G= ENSP00000464772.2:n.1448-166G=
ENST00000593223.2:c.*1279G= ENSP00000466118.2:n.*1279G=
ENST00000611848.2:c.*100-166G= ENSP00000478613.2:n.*100-166G=
ENST00000684953.1:n.3463-166G=
ENST00000685090.1:n.3212G=
ENST00000685232.1:n.1669-166G=
ENST00000688574.1:n.1556-166G=
ENST00000691124.1:n.4243G=
ENST00000342988.8:c.1448-166G= MANE Select ENSP00000341551.3:n.1448-166G=
ENST00000342988.7:c.1448-166G= ENSP00000341551.3:n.1448-166G=
ENST00000398417.6:c.1448-166G= ENSP00000381452.1:n.1448-166G=
ENST00000586253.1:n.170-166G=
ENST00000588745.5:c.1160-166G= ENSP00000464901.1:n.1160-166G=
ENST00000591126.5:n.3449-166G=
ENST00000592186.5:c.1095-166G= ENSP00000468611.1:n.1095-166G=
ENST00000611848.1:c.761-166G=
NM_005359.5:c.1448-166G= , LRG_318t1:c.1448-166G= NP_005350.1:n.1448-166G=
NM_005359.6:c.1448-166G= MANE Select NP_005350.1:n.1448-166G=