Canonical Allele Identifier: CA2735216263
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs2144433943

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51059973A>T , CM000680.2:g.51059973A>T GRCh38
NC_000018.9:g.48586343A>T , CM000680.1:g.48586343A>T GRCh37
NC_000018.8:g.46840341A>T NCBI36
NG_013013.2:g.96934A>T , LRG_318:g.96934A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.955+57A>T ENSP00000465878.2:n.955+57A>T
ENST00000589076.6:c.955+57A>T ENSP00000466934.2:n.955+57A>T
ENST00000589941.2:c.955+57A>T ENSP00000465874.2:n.955+57A>T
ENST00000590061.2:c.955+57A>T ENSP00000464772.2:n.955+57A>T
ENST00000593223.2:c.955+57A>T ENSP00000466118.2:n.955+57A>T
ENST00000611848.2:c.955+57A>T ENSP00000478613.2:n.955+57A>T
ENST00000684953.1:n.2327+57A>T
ENST00000685090.1:n.1406+57A>T
ENST00000685232.1:n.1063+57A>T
ENST00000688307.1:n.206+57A>T
ENST00000688574.1:n.1063+57A>T
ENST00000688903.1:n.1169+57A>T
ENST00000690892.1:n.1120A>T
ENST00000342988.8:c.955+57A>T MANE Select ENSP00000341551.3:n.955+57A>T
ENST00000342988.7:c.955+57A>T ENSP00000341551.3:n.955+57A>T
ENST00000398417.6:c.955+57A>T ENSP00000381452.1:n.955+57A>T
ENST00000588745.5:c.667+4980A>T ENSP00000464901.1:n.667+4980A>T
ENST00000591126.5:n.2956+57A>T
ENST00000592186.5:c.955+57A>T ENSP00000468611.1:n.955+57A>T
ENST00000611848.1:c.155+57A>T
NM_005359.5:c.955+57A>T , LRG_318t1:c.955+57A>T NP_005350.1:n.955+57A>T
NM_005359.6:c.955+57A>T MANE Select NP_005350.1:n.955+57A>T