Canonical Allele Identifier: CA2573155365

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1626555
• ClinVar RCV Id: RCV002110782
• dbSNP Id: rs2144453059
• gnomAD v4: 18-51067206-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067206T>G , CM000680.2:g.51067206T>G	GRCh38
NC_000018.9:g.48593576T>G , CM000680.1:g.48593576T>G	GRCh37
NC_000018.8:g.46847574T>G	NCBI36
NG_013013.2:g.104167T>G , LRG_318:g.104167T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1308+19T>G	ENSP00000465878.2:n.1308+19T>G
ENST00000589076.6:c.1308+19T>G	ENSP00000466934.2:n.1308+19T>G
ENST00000589941.2:c.1308+19T>G	ENSP00000465874.2:n.1308+19T>G
ENST00000590061.2:c.1308+19T>G	ENSP00000464772.2:n.1308+19T>G
ENST00000593223.2:c.1308+19T>G	ENSP00000466118.2:n.1308+19T>G
ENST00000611848.2:c.1308+19T>G	ENSP00000478613.2:n.1308+19T>G
ENST00000684953.1:n.2680+19T>G
ENST00000685090.1:n.1759+19T>G
ENST00000685232.1:n.1416+19T>G
ENST00000688574.1:n.1416+19T>G
ENST00000691124.1:n.2790+19T>G
ENST00000342988.8:c.1308+19T>G MANE Select	ENSP00000341551.3:n.1308+19T>G
ENST00000342988.7:c.1308+19T>G	ENSP00000341551.3:n.1308+19T>G
ENST00000398417.6:c.1308+19T>G	ENSP00000381452.1:n.1308+19T>G
ENST00000588745.5:c.1020+19T>G	ENSP00000464901.1:n.1020+19T>G
ENST00000590499.1:n.366+19T>G
ENST00000591126.5:n.3309+19T>G
ENST00000592186.5:c.955+7290T>G	ENSP00000468611.1:n.955+7290T>G
ENST00000593223.1:c.75+19T>G	ENSP00000466118.1:n.75+19T>G
ENST00000611848.1:c.508+19T>G
NM_005359.5:c.1308+19T>G , LRG_318t1:c.1308+19T>G	NP_005350.1:n.1308+19T>G
NM_005359.6:c.1308+19T>G MANE Select	NP_005350.1:n.1308+19T>G