Canonical Allele Identifier: CA402465883

Gene: SMAD4

Linked Data

• dbSNP Id: rs1599205322
• COSMIC: COSM6191678
• MyVariant Identifiers: chr18:g.48604690T>G (hg19) ; chr18:g.51078320T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078320T>G , CM000680.2:g.51078320T>G	GRCh38
NC_000018.9:g.48604690T>G , CM000680.1:g.48604690T>G	GRCh37
NC_000018.8:g.46858688T>G	NCBI36
NG_013013.2:g.115281T>G , LRG_318:g.115281T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1512T>G	ENSP00000465878.2:p.Ser504Arg
ENST00000589076.6:c.1512T>G	ENSP00000466934.2:p.Ser504Arg
ENST00000589941.2:c.1512T>G	ENSP00000465874.2:p.Ser504Arg
ENST00000590061.2:c.1512T>G	ENSP00000464772.2:p.Ser504Arg
ENST00000593223.2:c.*1509T>G	ENSP00000466118.2:n.*1509T>G
ENST00000611848.2:c.*164T>G	ENSP00000478613.2:n.*164T>G
ENST00000684953.1:n.3527T>G
ENST00000685090.1:n.3442T>G
ENST00000685232.1:n.1733T>G
ENST00000688574.1:n.1620T>G
ENST00000691124.1:n.4473T>G
ENST00000342988.8:c.1512T>G MANE Select	ENSP00000341551.3:p.Ser504Arg
ENST00000342988.7:c.1512T>G	ENSP00000341551.3:p.Ser504Arg
ENST00000398417.6:c.1512T>G	ENSP00000381452.1:p.Ser504Arg
ENST00000586253.1:n.234T>G
ENST00000588745.5:c.1224T>G	ENSP00000464901.1:p.Ser408Arg
ENST00000591126.5:n.3513T>G
ENST00000592186.5:c.1159T>G	ENSP00000468611.1:n.1159T>G
ENST00000611848.1:c.825T>G
NM_005359.5:c.1512T>G , LRG_318t1:c.1512T>G	NP_005350.1:p.Ser504Arg
NM_005359.6:c.1512T>G MANE Select	NP_005350.1:p.Ser504Arg