Canonical Allele Identifier: CA402465856

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1343924
• ClinVar RCV Id: RCV001847469
• dbSNP Id: rs1426800709
• MyVariant Identifiers: chr18:g.48604685A>G (hg19) ; chr18:g.51078315A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078315A>G , CM000680.2:g.51078315A>G	GRCh38
NC_000018.9:g.48604685A>G , CM000680.1:g.48604685A>G	GRCh37
NC_000018.8:g.46858683A>G	NCBI36
NG_013013.2:g.115276A>G , LRG_318:g.115276A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1507A>G	ENSP00000465878.2:p.Met503Val
ENST00000589076.6:c.1507A>G	ENSP00000466934.2:p.Met503Val
ENST00000589941.2:c.1507A>G	ENSP00000465874.2:p.Met503Val
ENST00000590061.2:c.1507A>G	ENSP00000464772.2:p.Met503Val
ENST00000593223.2:c.*1504A>G	ENSP00000466118.2:n.*1504A>G
ENST00000611848.2:c.*159A>G	ENSP00000478613.2:n.*159A>G
ENST00000684953.1:n.3522A>G
ENST00000685090.1:n.3437A>G
ENST00000685232.1:n.1728A>G
ENST00000688574.1:n.1615A>G
ENST00000691124.1:n.4468A>G
ENST00000342988.8:c.1507A>G MANE Select	ENSP00000341551.3:p.Met503Val
ENST00000342988.7:c.1507A>G	ENSP00000341551.3:p.Met503Val
ENST00000398417.6:c.1507A>G	ENSP00000381452.1:p.Met503Val
ENST00000586253.1:n.229A>G
ENST00000588745.5:c.1219A>G	ENSP00000464901.1:p.Met407Val
ENST00000591126.5:n.3508A>G
ENST00000592186.5:c.1154A>G	ENSP00000468611.1:n.1154A>G
ENST00000611848.1:c.820A>G
NM_005359.5:c.1507A>G , LRG_318t1:c.1507A>G	NP_005350.1:p.Met503Val
NM_005359.6:c.1507A>G MANE Select	NP_005350.1:p.Met503Val