Canonical Allele Identifier: CA339552
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 216093
ClinVar RCV Id: RCV001387505
dbSNP Id: rs863224507
MyVariant Identifiers: chr18:g.48593391T>A (hg19) chr18:g.51067021T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067021T>A , CM000680.2:g.51067021T>A GRCh38
NC_000018.9:g.48593391T>A , CM000680.1:g.48593391T>A GRCh37
NC_000018.8:g.46847389T>A NCBI36
NG_013013.2:g.103982T>A , LRG_318:g.103982T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1142T>A ENSP00000465878.2:p.Leu381Ter
ENST00000589076.6:c.1142T>A ENSP00000466934.2:p.Leu381Ter
ENST00000589941.2:c.1142T>A ENSP00000465874.2:p.Leu381Ter
ENST00000590061.2:c.1142T>A ENSP00000464772.2:p.Leu381Ter
ENST00000593223.2:c.1142T>A ENSP00000466118.2:p.Leu381Ter
ENST00000611848.2:c.1142T>A ENSP00000478613.2:p.Leu381Ter
ENST00000684953.1:n.2514T>A
ENST00000685090.1:n.1593T>A
ENST00000685232.1:n.1250T>A
ENST00000688574.1:n.1250T>A
ENST00000691124.1:n.2624T>A
ENST00000342988.8:c.1142T>A MANE Select ENSP00000341551.3:p.Leu381Ter
ENST00000342988.7:c.1142T>A ENSP00000341551.3:p.Leu381Ter
ENST00000398417.6:c.1142T>A ENSP00000381452.1:p.Leu381Ter
ENST00000588745.5:c.854T>A ENSP00000464901.1:p.Leu285Ter
ENST00000590499.1:n.200T>A
ENST00000591126.5:n.3143T>A
ENST00000592186.5:c.955+7105T>A ENSP00000468611.1:n.955+7105T>A
ENST00000611848.1:c.342T>A
NM_005359.5:c.1142T>A , LRG_318t1:c.1142T>A NP_005350.1:p.Leu381Ter
NM_005359.6:c.1142T>A MANE Select NP_005350.1:p.Leu381Ter
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