Canonical Allele Identifier: CA402460591

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 460552
• ClinVar RCV Id: RCV002231363 ; RCV004023833 ; RCV002319038
• dbSNP Id: rs1555685624
• COSMIC: COSM4728226
• MyVariant Identifiers: chr18:g.48581157C>G (hg19) ; chr18:g.51054787C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51054787C>G , CM000680.2:g.51054787C>G	GRCh38
NC_000018.9:g.48581157C>G , CM000680.1:g.48581157C>G	GRCh37
NC_000018.8:g.46835155C>G	NCBI36
NG_013013.2:g.91748C>G , LRG_318:g.91748C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.461C>G	ENSP00000465878.2:p.Ser154Ter
ENST00000589076.6:c.461C>G	ENSP00000466934.2:p.Ser154Ter
ENST00000589941.2:c.461C>G	ENSP00000465874.2:p.Ser154Ter
ENST00000590061.2:c.461C>G	ENSP00000464772.2:p.Ser154Ter
ENST00000593223.2:c.461C>G	ENSP00000466118.2:p.Ser154Ter
ENST00000611848.2:c.461C>G	ENSP00000478613.2:p.Ser154Ter
ENST00000684953.1:n.1833C>G
ENST00000342988.8:c.461C>G MANE Select	ENSP00000341551.3:p.Ser154Ter
ENST00000342988.7:c.461C>G	ENSP00000341551.3:p.Ser154Ter
ENST00000398417.6:c.461C>G	ENSP00000381452.1:p.Ser154Ter
ENST00000585448.1:n.330C>G
ENST00000588745.5:c.461C>G	ENSP00000464901.1:p.Ser154Ter
ENST00000590722.2:c.*637C>G	ENSP00000465737.1:n.*637C>G
ENST00000591126.5:n.2462C>G
ENST00000592186.5:c.461C>G	ENSP00000468611.1:p.Ser154Ter
ENST00000592911.5:n.239C>G
NM_005359.5:c.461C>G , LRG_318t1:c.461C>G	NP_005350.1:p.Ser154Ter
NM_005359.6:c.461C>G MANE Select	NP_005350.1:p.Ser154Ter