Canonical Allele Identifier: CA402463597

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144429398
• gnomAD v4: 18-51058445-C-A
• COSMIC: COSM6475988
• MyVariant Identifiers: chr18:g.48584815C>A (hg19) ; chr18:g.51058445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058445C>A , CM000680.2:g.51058445C>A	GRCh38
NC_000018.9:g.48584815C>A , CM000680.1:g.48584815C>A	GRCh37
NC_000018.8:g.46838813C>A	NCBI36
NG_013013.2:g.95406C>A , LRG_318:g.95406C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.893C>A	ENSP00000465878.2:p.Pro298His
ENST00000589076.6:c.893C>A	ENSP00000466934.2:p.Pro298His
ENST00000589941.2:c.893C>A	ENSP00000465874.2:p.Pro298His
ENST00000590061.2:c.893C>A	ENSP00000464772.2:p.Pro298His
ENST00000593223.2:c.893C>A	ENSP00000466118.2:p.Pro298His
ENST00000611848.2:c.893C>A	ENSP00000478613.2:p.Pro298His
ENST00000684953.1:n.2265C>A
ENST00000685232.1:n.1001C>A
ENST00000688307.1:n.156-1421C>A
ENST00000688574.1:n.1001C>A
ENST00000688903.1:n.1107C>A
ENST00000690892.1:n.1001C>A
ENST00000342988.8:c.893C>A MANE Select	ENSP00000341551.3:p.Pro298His
ENST00000342988.7:c.893C>A	ENSP00000341551.3:p.Pro298His
ENST00000398417.6:c.893C>A	ENSP00000381452.1:p.Pro298His
ENST00000588745.5:c.667+3452C>A	ENSP00000464901.1:n.667+3452C>A
ENST00000591126.5:n.2894C>A
ENST00000592186.5:c.893C>A	ENSP00000468611.1:p.Pro298His
ENST00000611848.1:c.93C>A
NM_005359.5:c.893C>A , LRG_318t1:c.893C>A	NP_005350.1:p.Pro298His
NM_005359.6:c.893C>A MANE Select	NP_005350.1:p.Pro298His