Canonical Allele Identifier: CA128979
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 30150
ClinVar RCV Id: RCV001249691 RCV001260808 RCV001375955 RCV001376590
dbSNP Id: rs281875322
gnomAD v2: 18-48604676-A-G
gnomAD v4: 18-51078306-A-G
MyVariant Identifiers: chr18:g.48604676A>G (hg19) chr18:g.51078306A>G (hg38)
PubMed: PMID:11977156 PMID:15031030 PMID:16613914 PMID:17873119 PMID:22158539 PMID:22243968 PMID:22581936 PMID:22585601 PMID:22846733 PMID:23891399 PMID:24398790 PMID:24424121 PMID:24715504 PMID:25961944 PMID:26420300 PMID:26785492 PMID:27562837 PMID:28135719 PMID:28406602
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078306A>G , CM000680.2:g.51078306A>G GRCh38
NC_000018.9:g.48604676A>G , CM000680.1:g.48604676A>G GRCh37
NC_000018.8:g.46858674A>G NCBI36
NG_013013.2:g.115267A>G , LRG_318:g.115267A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1498A>G ENSP00000465878.2:p.Ile500Val
ENST00000589076.6:c.1498A>G ENSP00000466934.2:p.Ile500Val
ENST00000589941.2:c.1498A>G ENSP00000465874.2:p.Ile500Val
ENST00000590061.2:c.1498A>G ENSP00000464772.2:p.Ile500Val
ENST00000593223.2:c.*1495A>G ENSP00000466118.2:n.*1495A>G
ENST00000611848.2:c.*150A>G ENSP00000478613.2:n.*150A>G
ENST00000684953.1:n.3513A>G
ENST00000685090.1:n.3428A>G
ENST00000685232.1:n.1719A>G
ENST00000688574.1:n.1606A>G
ENST00000691124.1:n.4459A>G
ENST00000342988.8:c.1498A>G MANE Select ENSP00000341551.3:p.Ile500Val
ENST00000342988.7:c.1498A>G ENSP00000341551.3:p.Ile500Val
ENST00000398417.6:c.1498A>G ENSP00000381452.1:p.Ile500Val
ENST00000586253.1:n.220A>G
ENST00000588745.5:c.1210A>G ENSP00000464901.1:p.Ile404Val
ENST00000591126.5:n.3499A>G
ENST00000592186.5:c.1145A>G ENSP00000468611.1:n.1145A>G
ENST00000611848.1:c.811A>G
NM_005359.5:c.1498A>G , LRG_318t1:c.1498A>G NP_005350.1:p.Ile500Val
NM_005359.6:c.1498A>G MANE Select NP_005350.1:p.Ile500Val
Search 100 bp 5'
Search 100 bp 3'