Canonical Allele Identifier: CA402466137

Gene: SMAD4

Linked Data

• dbSNP Id: rs1057519741
• COSMIC: COSM1389112
• MyVariant Identifiers: chr18:g.48604787G>C (hg19) ; chr18:g.51078417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078417G>C , CM000680.2:g.51078417G>C	GRCh38
NC_000018.9:g.48604787G>C , CM000680.1:g.48604787G>C	GRCh37
NC_000018.8:g.46858785G>C	NCBI36
NG_013013.2:g.115378G>C , LRG_318:g.115378G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1609G>C	ENSP00000465878.2:p.Asp537His
ENST00000589076.6:c.1609G>C	ENSP00000466934.2:p.Asp537His
ENST00000589941.2:c.1609G>C	ENSP00000465874.2:p.Asp537His
ENST00000590061.2:c.1609G>C	ENSP00000464772.2:p.Asp537His
ENST00000593223.2:c.*1606G>C	ENSP00000466118.2:n.*1606G>C
ENST00000611848.2:c.*261G>C	ENSP00000478613.2:n.*261G>C
ENST00000684953.1:n.3624G>C
ENST00000685090.1:n.3539G>C
ENST00000685232.1:n.1830G>C
ENST00000688574.1:n.1717G>C
ENST00000691124.1:n.4570G>C
ENST00000342988.8:c.1609G>C MANE Select	ENSP00000341551.3:p.Asp537His
ENST00000342988.7:c.1609G>C	ENSP00000341551.3:p.Asp537His
ENST00000398417.6:c.1609G>C	ENSP00000381452.1:p.Asp537His
ENST00000586253.1:n.331G>C
ENST00000588745.5:c.1321G>C	ENSP00000464901.1:p.Asp441His
ENST00000591126.5:n.3610G>C
ENST00000592186.5:c.1256G>C	ENSP00000468611.1:n.1256G>C
ENST00000611848.1:c.922G>C
NM_005359.5:c.1609G>C , LRG_318t1:c.1609G>C	NP_005350.1:p.Asp537His
NM_005359.6:c.1609G>C MANE Select	NP_005350.1:p.Asp537His