Canonical Allele Identifier: CA8966118
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 327112
dbSNP Id: rs767288576

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078497A>C , CM000680.2:g.51078497A>C GRCh38
NC_000018.9:g.48604867A>C , CM000680.1:g.48604867A>C GRCh37
NC_000018.8:g.46858865A>C NCBI36
NG_013013.2:g.115458A>C , LRG_318:g.115458A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.*30A>C ENSP00000465878.2:n.*30A>C
ENST00000589076.6:c.*30A>C ENSP00000466934.2:n.*30A>C
ENST00000589941.2:c.*30A>C ENSP00000465874.2:n.*30A>C
ENST00000590061.2:c.*30A>C ENSP00000464772.2:n.*30A>C
ENST00000593223.2:c.*1686A>C ENSP00000466118.2:n.*1686A>C
ENST00000611848.2:c.*341A>C ENSP00000478613.2:n.*341A>C
ENST00000684953.1:n.3704A>C
ENST00000685090.1:n.3619A>C
ENST00000685232.1:n.1910A>C
ENST00000688574.1:n.1797A>C
ENST00000691124.1:n.4650A>C
ENST00000342988.8:c.*30A>C MANE Select ENSP00000341551.3:n.*30A>C
ENST00000342988.7:c.*30A>C ENSP00000341551.3:n.*30A>C
ENST00000398417.6:c.*30A>C ENSP00000381452.1:n.*30A>C
ENST00000586253.1:n.411A>C
ENST00000591126.5:n.3690A>C
ENST00000611848.1:c.1002A>C
NM_005359.5:c.*30A>C , LRG_318t1:c.*30A>C NP_005350.1:n.*30A>C
NM_005359.6:c.*30A>C MANE Select NP_005350.1:n.*30A>C