Canonical Allele Identifier: CA16615798
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 405491
ClinVar RCV Id: RCV002230328 RCV002318519
dbSNP Id: rs1060500734
MyVariant Identifiers: chr18:g.48593447del (hg19) chr18:g.51067077del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067077del , CM000680.2:g.51067077del GRCh38
NC_000018.9:g.48593447del , CM000680.1:g.48593447del GRCh37
NC_000018.8:g.46847445del NCBI36
NG_013013.2:g.104038del , LRG_318:g.104038del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1198del ENSP00000465878.2:p.Arg400GlyfsTer15
ENST00000589076.6:c.1198del ENSP00000466934.2:p.Arg400GlyfsTer15
ENST00000589941.2:c.1198del ENSP00000465874.2:p.Arg400GlyfsTer15
ENST00000590061.2:c.1198del ENSP00000464772.2:p.Arg400GlyfsTer15
ENST00000593223.2:c.1198del ENSP00000466118.2:p.Arg400GlyfsTer15
ENST00000611848.2:c.1198del ENSP00000478613.2:p.Arg400GlyfsTer15
ENST00000684953.1:n.2570del
ENST00000685090.1:n.1649del
ENST00000685232.1:n.1306del
ENST00000688574.1:n.1306del
ENST00000691124.1:n.2680del
ENST00000342988.8:c.1198del MANE Select ENSP00000341551.3:p.Arg400GlyfsTer15
ENST00000342988.7:c.1198del ENSP00000341551.3:p.Arg400GlyfsTer15
ENST00000398417.6:c.1198del ENSP00000381452.1:p.Arg400GlyfsTer15
ENST00000588745.5:c.910del ENSP00000464901.1:p.Arg304GlyfsTer15
ENST00000590499.1:n.256del
ENST00000591126.5:n.3199del
ENST00000592186.5:c.955+7161del ENSP00000468611.1:n.955+7161del
ENST00000611848.1:c.398del
NM_005359.5:c.1198del , LRG_318t1:c.1198del NP_005350.1:p.Arg400GlyfsTer15
NM_005359.6:c.1198del MANE Select NP_005350.1:p.Arg400GlyfsTer15
Search 100 bp 5'
Search 100 bp 3'