Canonical Allele Identifier: CA402465086

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 520190
• ClinVar RCV Id: RCV002233900 ; RCV002315231 ; RCV004025257
• dbSNP Id: rs587781618
• MyVariant Identifiers: chr18:g.48593558G>A (hg19) ; chr18:g.51067188G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067188G>A , CM000680.2:g.51067188G>A	GRCh38
NC_000018.9:g.48593558G>A , CM000680.1:g.48593558G>A	GRCh37
NC_000018.8:g.46847556G>A	NCBI36
NG_013013.2:g.104149G>A , LRG_318:g.104149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+1G>A	ENSP00000465878.2:n.1308+1G>A
ENST00000589076.6:c.1308+1G>A	ENSP00000466934.2:n.1308+1G>A
ENST00000589941.2:c.1308+1G>A	ENSP00000465874.2:n.1308+1G>A
ENST00000590061.2:c.1308+1G>A	ENSP00000464772.2:n.1308+1G>A
ENST00000593223.2:c.1308+1G>A	ENSP00000466118.2:n.1308+1G>A
ENST00000611848.2:c.1308+1G>A	ENSP00000478613.2:n.1308+1G>A
ENST00000684953.1:n.2680+1G>A
ENST00000685090.1:n.1759+1G>A
ENST00000685232.1:n.1416+1G>A
ENST00000688574.1:n.1416+1G>A
ENST00000691124.1:n.2790+1G>A
ENST00000342988.8:c.1308+1G>A MANE Select	ENSP00000341551.3:n.1308+1G>A
ENST00000342988.7:c.1308+1G>A	ENSP00000341551.3:n.1308+1G>A
ENST00000398417.6:c.1308+1G>A	ENSP00000381452.1:n.1308+1G>A
ENST00000588745.5:c.1020+1G>A	ENSP00000464901.1:n.1020+1G>A
ENST00000590499.1:n.366+1G>A
ENST00000591126.5:n.3309+1G>A
ENST00000592186.5:c.955+7272G>A	ENSP00000468611.1:n.955+7272G>A
ENST00000593223.1:c.75+1G>A	ENSP00000466118.1:n.75+1G>A
ENST00000611848.1:c.508+1G>A
NM_005359.5:c.1308+1G>A , LRG_318t1:c.1308+1G>A	NP_005350.1:n.1308+1G>A
NM_005359.6:c.1308+1G>A MANE Select	NP_005350.1:n.1308+1G>A