Canonical Allele Identifier: CA402466072

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144479133
• COSMIC: COSM4754646
• MyVariant Identifiers: chr18:g.48604755A>C (hg19) ; chr18:g.51078385A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078385A>C , CM000680.2:g.51078385A>C	GRCh38
NC_000018.9:g.48604755A>C , CM000680.1:g.48604755A>C	GRCh37
NC_000018.8:g.46858753A>C	NCBI36
NG_013013.2:g.115346A>C , LRG_318:g.115346A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1577A>C	ENSP00000465878.2:p.Glu526Ala
ENST00000589076.6:c.1577A>C	ENSP00000466934.2:p.Glu526Ala
ENST00000589941.2:c.1577A>C	ENSP00000465874.2:p.Glu526Ala
ENST00000590061.2:c.1577A>C	ENSP00000464772.2:p.Glu526Ala
ENST00000593223.2:c.*1574A>C	ENSP00000466118.2:n.*1574A>C
ENST00000611848.2:c.*229A>C	ENSP00000478613.2:n.*229A>C
ENST00000684953.1:n.3592A>C
ENST00000685090.1:n.3507A>C
ENST00000685232.1:n.1798A>C
ENST00000688574.1:n.1685A>C
ENST00000691124.1:n.4538A>C
ENST00000342988.8:c.1577A>C MANE Select	ENSP00000341551.3:p.Glu526Ala
ENST00000342988.7:c.1577A>C	ENSP00000341551.3:p.Glu526Ala
ENST00000398417.6:c.1577A>C	ENSP00000381452.1:p.Glu526Ala
ENST00000586253.1:n.299A>C
ENST00000588745.5:c.1289A>C	ENSP00000464901.1:p.Glu430Ala
ENST00000591126.5:n.3578A>C
ENST00000592186.5:c.1224A>C	ENSP00000468611.1:n.1224A>C
ENST00000611848.1:c.890A>C
NM_005359.5:c.1577A>C , LRG_318t1:c.1577A>C	NP_005350.1:p.Glu526Ala
NM_005359.6:c.1577A>C MANE Select	NP_005350.1:p.Glu526Ala