Canonical Allele Identifier: CA2576506246

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078561-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078561C>A , CM000680.2:g.51078561C>A	GRCh38
NC_000018.9:g.48604931C>A , CM000680.1:g.48604931C>A	GRCh37
NC_000018.8:g.46858929C>A	NCBI36
NG_013013.2:g.115522C>A , LRG_318:g.115522C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*94C>A	ENSP00000465878.2:n.*94C>A
ENST00000589076.6:c.*94C>A	ENSP00000466934.2:n.*94C>A
ENST00000589941.2:c.*94C>A	ENSP00000465874.2:n.*94C>A
ENST00000590061.2:c.*94C>A	ENSP00000464772.2:n.*94C>A
ENST00000593223.2:c.*1750C>A	ENSP00000466118.2:n.*1750C>A
ENST00000611848.2:c.*405C>A	ENSP00000478613.2:n.*405C>A
ENST00000684953.1:n.3768C>A
ENST00000685090.1:n.3683C>A
ENST00000685232.1:n.1974C>A
ENST00000688574.1:n.1861C>A
ENST00000691124.1:n.4714C>A
ENST00000342988.8:c.*94C>A MANE Select	ENSP00000341551.3:n.*94C>A
ENST00000342988.7:c.*94C>A	ENSP00000341551.3:n.*94C>A
ENST00000398417.6:c.*94C>A	ENSP00000381452.1:n.*94C>A
ENST00000586253.1:n.475C>A
ENST00000591126.5:n.3754C>A
ENST00000611848.1:c.1066C>A
NM_005359.5:c.*94C>A , LRG_318t1:c.*94C>A	NP_005350.1:n.*94C>A
NM_005359.6:c.*94C>A MANE Select	NP_005350.1:n.*94C>A