Canonical Allele Identifier: CA503874130

Gene: SMAD4

Linked Data

• MyVariant Identifiers: chr18:g.48591881T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065511T>C , CM000680.2:g.51065511T>C	GRCh38
NC_000018.9:g.48591881T>C , CM000680.1:g.48591881T>C	GRCh37
NC_000018.8:g.46845879T>C	NCBI36
NG_013013.2:g.102472T>C , LRG_318:g.102472T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1044T>C	ENSP00000465878.2:p.Val348=
ENST00000589076.6:c.1044T>C	ENSP00000466934.2:p.Val348=
ENST00000589941.2:c.1044T>C	ENSP00000465874.2:p.Val348=
ENST00000590061.2:c.1044T>C	ENSP00000464772.2:p.Val348=
ENST00000593223.2:c.1044T>C	ENSP00000466118.2:p.Val348=
ENST00000611848.2:c.1044T>C	ENSP00000478613.2:p.Val348=
ENST00000684953.1:n.2416T>C
ENST00000685090.1:n.1495T>C
ENST00000685232.1:n.1152T>C
ENST00000688307.1:n.295T>C
ENST00000688574.1:n.1152T>C
ENST00000688903.1:n.1258T>C
ENST00000691124.1:n.2526T>C
ENST00000342988.8:c.1044T>C MANE Select	ENSP00000341551.3:p.Val348=
ENST00000342988.7:c.1044T>C	ENSP00000341551.3:p.Val348=
ENST00000398417.6:c.1044T>C	ENSP00000381452.1:p.Val348=
ENST00000588745.5:c.756T>C	ENSP00000464901.1:p.Val252=
ENST00000591126.5:n.3045T>C
ENST00000592186.5:c.955+5595T>C	ENSP00000468611.1:n.955+5595T>C
ENST00000611848.1:c.244T>C
NM_005359.5:c.1044T>C , LRG_318t1:c.1044T>C	NP_005350.1:p.Val348=
NM_005359.6:c.1044T>C MANE Select	NP_005350.1:p.Val348=