Canonical Allele Identifier: CA402466017

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144478923
• MyVariant Identifiers: chr18:g.48604730A>T (hg19) ; chr18:g.51078360A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078360A>T , CM000680.2:g.51078360A>T	GRCh38
NC_000018.9:g.48604730A>T , CM000680.1:g.48604730A>T	GRCh37
NC_000018.8:g.46858728A>T	NCBI36
NG_013013.2:g.115321A>T , LRG_318:g.115321A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1552A>T	ENSP00000465878.2:p.Ile518Phe
ENST00000589076.6:c.1552A>T	ENSP00000466934.2:p.Ile518Phe
ENST00000589941.2:c.1552A>T	ENSP00000465874.2:p.Ile518Phe
ENST00000590061.2:c.1552A>T	ENSP00000464772.2:p.Ile518Phe
ENST00000593223.2:c.*1549A>T	ENSP00000466118.2:n.*1549A>T
ENST00000611848.2:c.*204A>T	ENSP00000478613.2:n.*204A>T
ENST00000684953.1:n.3567A>T
ENST00000685090.1:n.3482A>T
ENST00000685232.1:n.1773A>T
ENST00000688574.1:n.1660A>T
ENST00000691124.1:n.4513A>T
ENST00000342988.8:c.1552A>T MANE Select	ENSP00000341551.3:p.Ile518Phe
ENST00000342988.7:c.1552A>T	ENSP00000341551.3:p.Ile518Phe
ENST00000398417.6:c.1552A>T	ENSP00000381452.1:p.Ile518Phe
ENST00000586253.1:n.274A>T
ENST00000588745.5:c.1264A>T	ENSP00000464901.1:p.Ile422Phe
ENST00000591126.5:n.3553A>T
ENST00000592186.5:c.1199A>T	ENSP00000468611.1:n.1199A>T
ENST00000611848.1:c.865A>T
NM_005359.5:c.1552A>T , LRG_318t1:c.1552A>T	NP_005350.1:p.Ile518Phe
NM_005359.6:c.1552A>T MANE Select	NP_005350.1:p.Ile518Phe