Canonical Allele Identifier: CA145285
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 88673
ClinVar RCV Id: RCV001261800 RCV002228175 RCV002311544 RCV002483120 RCV003398656 RCV003584539
dbSNP Id: rs397518413
ExAC: 18:48604664 C / T
gnomAD v2: 18-48604664-C-T
gnomAD v4: 18-51078294-C-T
COSMIC: COSM6476007
MyVariant Identifiers: chr18:g.48604664C>T (hg19) chr18:g.51078294C>T (hg38)
PubMed: PMID:15031030 PMID:16613914 PMID:17873119 PMID:22158539 PMID:22243968 PMID:22581936 PMID:22585601 PMID:22846733 PMID:24398790 PMID:24424121 PMID:24580733 PMID:24715504 PMID:24841914 PMID:26420300 PMID:27562837 PMID:28135719 PMID:28406602
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078294C>T , CM000680.2:g.51078294C>T GRCh38
NC_000018.9:g.48604664C>T , CM000680.1:g.48604664C>T GRCh37
NC_000018.8:g.46858662C>T NCBI36
NG_013013.2:g.115255C>T , LRG_318:g.115255C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1486C>T ENSP00000465878.2:p.Arg496Cys
ENST00000589076.6:c.1486C>T ENSP00000466934.2:p.Arg496Cys
ENST00000589941.2:c.1486C>T ENSP00000465874.2:p.Arg496Cys
ENST00000590061.2:c.1486C>T ENSP00000464772.2:p.Arg496Cys
ENST00000593223.2:c.*1483C>T ENSP00000466118.2:n.*1483C>T
ENST00000611848.2:c.*138C>T ENSP00000478613.2:n.*138C>T
ENST00000684953.1:n.3501C>T
ENST00000685090.1:n.3416C>T
ENST00000685232.1:n.1707C>T
ENST00000688574.1:n.1594C>T
ENST00000691124.1:n.4447C>T
ENST00000342988.8:c.1486C>T MANE Select ENSP00000341551.3:p.Arg496Cys
ENST00000342988.7:c.1486C>T ENSP00000341551.3:p.Arg496Cys
ENST00000398417.6:c.1486C>T ENSP00000381452.1:p.Arg496Cys
ENST00000586253.1:n.208C>T
ENST00000588745.5:c.1198C>T ENSP00000464901.1:p.Arg400Cys
ENST00000591126.5:n.3487C>T
ENST00000592186.5:c.1133C>T ENSP00000468611.1:n.1133C>T
ENST00000611848.1:c.799C>T
NM_005359.5:c.1486C>T , LRG_318t1:c.1486C>T NP_005350.1:p.Arg496Cys
NM_005359.6:c.1486C>T MANE Select NP_005350.1:p.Arg496Cys
Search 100 bp 5'
Search 100 bp 3'