Canonical Allele Identifier: CA402464258

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1415596
• ClinVar RCV Id: RCV001933160 ; RCV002388830
• dbSNP Id: rs2144446966
• MyVariant Identifiers: chr18:g.48591873C>G (hg19) ; chr18:g.51065503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065503C>G , CM000680.2:g.51065503C>G	GRCh38
NC_000018.9:g.48591873C>G , CM000680.1:g.48591873C>G	GRCh37
NC_000018.8:g.46845871C>G	NCBI36
NG_013013.2:g.102464C>G , LRG_318:g.102464C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1036C>G	ENSP00000465878.2:p.Pro346Ala
ENST00000589076.6:c.1036C>G	ENSP00000466934.2:p.Pro346Ala
ENST00000589941.2:c.1036C>G	ENSP00000465874.2:p.Pro346Ala
ENST00000590061.2:c.1036C>G	ENSP00000464772.2:p.Pro346Ala
ENST00000593223.2:c.1036C>G	ENSP00000466118.2:p.Pro346Ala
ENST00000611848.2:c.1036C>G	ENSP00000478613.2:p.Pro346Ala
ENST00000684953.1:n.2408C>G
ENST00000685090.1:n.1487C>G
ENST00000685232.1:n.1144C>G
ENST00000688307.1:n.287C>G
ENST00000688574.1:n.1144C>G
ENST00000688903.1:n.1250C>G
ENST00000691124.1:n.2518C>G
ENST00000342988.8:c.1036C>G MANE Select	ENSP00000341551.3:p.Pro346Ala
ENST00000342988.7:c.1036C>G	ENSP00000341551.3:p.Pro346Ala
ENST00000398417.6:c.1036C>G	ENSP00000381452.1:p.Pro346Ala
ENST00000588745.5:c.748C>G	ENSP00000464901.1:p.Pro250Ala
ENST00000591126.5:n.3037C>G
ENST00000592186.5:c.955+5587C>G	ENSP00000468611.1:n.955+5587C>G
ENST00000611848.1:c.236C>G
NM_005359.5:c.1036C>G , LRG_318t1:c.1036C>G	NP_005350.1:p.Pro346Ala
NM_005359.6:c.1036C>G MANE Select	NP_005350.1:p.Pro346Ala