Canonical Allele Identifier: CA402464086

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1720062
• ClinVar RCV Id: RCV002305083 ; RCV002382518
• dbSNP Id: rs2144446324
• COSMIC: COSM4186663
• MyVariant Identifiers: chr18:g.48591798G>A (hg19) ; chr18:g.51065428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065428G>A , CM000680.2:g.51065428G>A	GRCh38
NC_000018.9:g.48591798G>A , CM000680.1:g.48591798G>A	GRCh37
NC_000018.8:g.46845796G>A	NCBI36
NG_013013.2:g.102389G>A , LRG_318:g.102389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.961G>A	ENSP00000465878.2:p.Glu321Lys
ENST00000589076.6:c.961G>A	ENSP00000466934.2:p.Glu321Lys
ENST00000589941.2:c.961G>A	ENSP00000465874.2:p.Glu321Lys
ENST00000590061.2:c.961G>A	ENSP00000464772.2:p.Glu321Lys
ENST00000593223.2:c.961G>A	ENSP00000466118.2:p.Glu321Lys
ENST00000611848.2:c.961G>A	ENSP00000478613.2:p.Glu321Lys
ENST00000684953.1:n.2333G>A
ENST00000685090.1:n.1412G>A
ENST00000685232.1:n.1069G>A
ENST00000688307.1:n.212G>A
ENST00000688574.1:n.1069G>A
ENST00000688903.1:n.1175G>A
ENST00000691124.1:n.2443G>A
ENST00000342988.8:c.961G>A MANE Select	ENSP00000341551.3:p.Glu321Lys
ENST00000342988.7:c.961G>A	ENSP00000341551.3:p.Glu321Lys
ENST00000398417.6:c.961G>A	ENSP00000381452.1:p.Glu321Lys
ENST00000588745.5:c.673G>A	ENSP00000464901.1:p.Glu225Lys
ENST00000591126.5:n.2962G>A
ENST00000592186.5:c.955+5512G>A	ENSP00000468611.1:n.955+5512G>A
ENST00000611848.1:c.161G>A
NM_005359.5:c.961G>A , LRG_318t1:c.961G>A	NP_005350.1:p.Glu321Lys
NM_005359.6:c.961G>A MANE Select	NP_005350.1:p.Glu321Lys