Canonical Allele Identifier: CA259172
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 24803
ClinVar RCV Id: RCV002326681 RCV003595857
dbSNP Id: rs377767327
MyVariant Identifiers: chr18:g.48575659A>G (hg19) chr18:g.51049289A>G (hg38)
PubMed: PMID:17873119
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51049289A>G , CM000680.2:g.51049289A>G GRCh38
NC_000018.9:g.48575659A>G , CM000680.1:g.48575659A>G GRCh37
NC_000018.8:g.46829657A>G NCBI36
NG_013013.2:g.86250A>G , LRG_318:g.86250A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.425-6A>G ENSP00000465878.2:n.425-6A>G
ENST00000589076.6:c.425-6A>G ENSP00000466934.2:n.425-6A>G
ENST00000589941.2:c.425-6A>G ENSP00000465874.2:n.425-6A>G
ENST00000590061.2:c.425-6A>G ENSP00000464772.2:n.425-6A>G
ENST00000593223.2:c.425-6A>G ENSP00000466118.2:n.425-6A>G
ENST00000611848.2:c.425-6A>G ENSP00000478613.2:n.425-6A>G
ENST00000342988.8:c.425-6A>G MANE Select ENSP00000341551.3:n.425-6A>G
ENST00000342988.7:c.425-6A>G ENSP00000341551.3:n.425-6A>G
ENST00000398417.6:c.425-6A>G ENSP00000381452.1:n.425-6A>G
ENST00000588745.5:c.425-6A>G ENSP00000464901.1:n.425-6A>G
ENST00000589706.1:n.293-6A>G
ENST00000590722.2:c.*448-6A>G ENSP00000465737.1:n.*448-6A>G
ENST00000591914.5:c.425-6A>G ENSP00000466941.1:n.425-6A>G
ENST00000592186.5:c.425-6A>G ENSP00000468611.1:n.425-6A>G
ENST00000592911.5:n.203-6A>G
NM_005359.5:c.425-6A>G , LRG_318t1:c.425-6A>G NP_005350.1:n.425-6A>G
NM_005359.6:c.425-6A>G MANE Select NP_005350.1:n.425-6A>G
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