Canonical Allele Identifier: CA402458260

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1805611
• ClinVar RCV Id: RCV002472029
• MyVariant Identifiers: chr18:g.48575099T>G (hg19) ; chr18:g.51048729T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51048729T>G , CM000680.2:g.51048729T>G	GRCh38
NC_000018.9:g.48575099T>G , CM000680.1:g.48575099T>G	GRCh37
NC_000018.8:g.46829097T>G	NCBI36
NG_013013.2:g.85690T>G , LRG_318:g.85690T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.293T>G	ENSP00000465878.2:p.Leu98Arg
ENST00000589076.6:c.293T>G	ENSP00000466934.2:p.Leu98Arg
ENST00000589941.2:c.293T>G	ENSP00000465874.2:p.Leu98Arg
ENST00000590061.2:c.293T>G	ENSP00000464772.2:p.Leu98Arg
ENST00000593223.2:c.293T>G	ENSP00000466118.2:p.Leu98Arg
ENST00000611848.2:c.293T>G	ENSP00000478613.2:p.Leu98Arg
ENST00000342988.8:c.293T>G MANE Select	ENSP00000341551.3:p.Leu98Arg
ENST00000342988.7:c.293T>G	ENSP00000341551.3:p.Leu98Arg
ENST00000398417.6:c.293T>G	ENSP00000381452.1:p.Leu98Arg
ENST00000588745.5:c.293T>G	ENSP00000464901.1:p.Leu98Arg
ENST00000588860.5:c.293T>G	ENSP00000465878.1:p.Leu98Arg
ENST00000589706.1:n.161T>G
ENST00000589941.1:c.293T>G	ENSP00000465874.1:p.Leu98Arg
ENST00000590061.1:c.293T>G	ENSP00000464772.1:p.Leu98Arg
ENST00000590722.2:c.*316T>G	ENSP00000465737.1:n.*316T>G
ENST00000591914.5:c.293T>G	ENSP00000466941.1:p.Leu98Arg
ENST00000592186.5:c.293T>G	ENSP00000468611.1:p.Leu98Arg
ENST00000592911.5:n.71T>G
NM_005359.5:c.293T>G , LRG_318t1:c.293T>G	NP_005350.1:p.Leu98Arg
NM_005359.6:c.293T>G MANE Select	NP_005350.1:p.Leu98Arg