Canonical Allele Identifier: CA402464270

Gene: SMAD4

Linked Data

• MyVariant Identifiers: chr18:g.48591879G>T (hg19) ; chr18:g.51065509G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065509G>T , CM000680.2:g.51065509G>T	GRCh38
NC_000018.9:g.48591879G>T , CM000680.1:g.48591879G>T	GRCh37
NC_000018.8:g.46845877G>T	NCBI36
NG_013013.2:g.102470G>T , LRG_318:g.102470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1042G>T	ENSP00000465878.2:p.Val348Phe
ENST00000589076.6:c.1042G>T	ENSP00000466934.2:p.Val348Phe
ENST00000589941.2:c.1042G>T	ENSP00000465874.2:p.Val348Phe
ENST00000590061.2:c.1042G>T	ENSP00000464772.2:p.Val348Phe
ENST00000593223.2:c.1042G>T	ENSP00000466118.2:p.Val348Phe
ENST00000611848.2:c.1042G>T	ENSP00000478613.2:p.Val348Phe
ENST00000684953.1:n.2414G>T
ENST00000685090.1:n.1493G>T
ENST00000685232.1:n.1150G>T
ENST00000688307.1:n.293G>T
ENST00000688574.1:n.1150G>T
ENST00000688903.1:n.1256G>T
ENST00000691124.1:n.2524G>T
ENST00000342988.8:c.1042G>T MANE Select	ENSP00000341551.3:p.Val348Phe
ENST00000342988.7:c.1042G>T	ENSP00000341551.3:p.Val348Phe
ENST00000398417.6:c.1042G>T	ENSP00000381452.1:p.Val348Phe
ENST00000588745.5:c.754G>T	ENSP00000464901.1:p.Val252Phe
ENST00000591126.5:n.3043G>T
ENST00000592186.5:c.955+5593G>T	ENSP00000468611.1:n.955+5593G>T
ENST00000611848.1:c.242G>T
NM_005359.5:c.1042G>T , LRG_318t1:c.1042G>T	NP_005350.1:p.Val348Phe
NM_005359.6:c.1042G>T MANE Select	NP_005350.1:p.Val348Phe