Canonical Allele Identifier: CA2302989591

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910674385

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51083983A>G , CM000680.2:g.51083983A>G	GRCh38
NC_000018.9:g.48610353A>G , CM000680.1:g.48610353A>G	GRCh37
NC_000018.8:g.46864351A>G	NCBI36
NG_013013.2:g.120944A>G , LRG_318:g.120944A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*5516A>G	ENSP00000465878.2:n.*5516A>G
ENST00000589076.6:c.*5516A>G	ENSP00000466934.2:n.*5516A>G
ENST00000589941.2:c.*5516A>G	ENSP00000465874.2:n.*5516A>G
ENST00000590061.2:c.*5516A>G	ENSP00000464772.2:n.*5516A>G
ENST00000688574.1:n.7283A>G
ENST00000342988.8:c.*5516A>G MANE Select	ENSP00000341551.3:n.*5516A>G
ENST00000342988.7:c.*5516A>G	ENSP00000341551.3:n.*5516A>G
ENST00000398417.6:c.*5516A>G	ENSP00000381452.1:n.*5516A>G
NM_005359.5:c.*5516A>G , LRG_318t1:c.*5516A>G	NP_005350.1:n.*5516A>G
NM_005359.6:c.*5516A>G MANE Select	NP_005350.1:n.*5516A>G