Canonical Allele Identifier: CA10641677
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 327168
dbSNP Id: rs571773833

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51083334dup , CM000680.2:g.51083334dup GRCh38
NC_000018.9:g.48609704dup , CM000680.1:g.48609704dup GRCh37
NC_000018.8:g.46863702dup NCBI36
NG_013013.2:g.120295dup , LRG_318:g.120295dup

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.*4867dup ENSP00000465878.2:n.*4867dup
ENST00000589076.6:c.*4867dup ENSP00000466934.2:n.*4867dup
ENST00000589941.2:c.*4867dup ENSP00000465874.2:n.*4867dup
ENST00000590061.2:c.*4867dup ENSP00000464772.2:n.*4867dup
ENST00000688574.1:n.6634dup
ENST00000342988.8:c.*4867dup MANE Select ENSP00000341551.3:n.*4867dup
ENST00000342988.7:c.*4867dup ENSP00000341551.3:n.*4867dup
ENST00000398417.6:c.*4867dup ENSP00000381452.1:n.*4867dup
NM_005359.5:c.*4867dup , LRG_318t1:c.*4867dup NP_005350.1:n.*4867dup
NM_005359.6:c.*4867dup MANE Select NP_005350.1:n.*4867dup