Canonical Allele Identifier: CA2302987072
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078681T= , CM000680.2:g.51078681T= GRCh38
NC_000018.9:g.48605051T= , CM000680.1:g.48605051T= GRCh37
NC_000018.8:g.46859049T= NCBI36
NG_013013.2:g.115642T= , LRG_318:g.115642T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.*214T= ENSP00000465878.2:n.*214T=
ENST00000589076.6:c.*214T= ENSP00000466934.2:n.*214T=
ENST00000589941.2:c.*214T= ENSP00000465874.2:n.*214T=
ENST00000590061.2:c.*214T= ENSP00000464772.2:n.*214T=
ENST00000593223.2:c.*1870T= ENSP00000466118.2:n.*1870T=
ENST00000611848.2:c.*525T= ENSP00000478613.2:n.*525T=
ENST00000684953.1:n.3888T=
ENST00000685090.1:n.3803T=
ENST00000685232.1:n.2094T=
ENST00000688574.1:n.1981T=
ENST00000691124.1:n.4834T=
ENST00000342988.8:c.*214T= MANE Select ENSP00000341551.3:n.*214T=
ENST00000342988.7:c.*214T= ENSP00000341551.3:n.*214T=
ENST00000398417.6:c.*214T= ENSP00000381452.1:n.*214T=
ENST00000586253.1:n.595T=
ENST00000591126.5:n.3874T=
ENST00000611848.1:c.1186T=
NM_005359.5:c.*214T= , LRG_318t1:c.*214T= NP_005350.1:n.*214T=
NM_005359.6:c.*214T= MANE Select NP_005350.1:n.*214T=