Canonical Allele Identifier: CA2302987043

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910532356
• gnomAD v4: 18-51078601-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078601G>A , CM000680.2:g.51078601G>A	GRCh38
NC_000018.9:g.48604971G>A , CM000680.1:g.48604971G>A	GRCh37
NC_000018.8:g.46858969G>A	NCBI36
NG_013013.2:g.115562G>A , LRG_318:g.115562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*134G>A	ENSP00000465878.2:n.*134G>A
ENST00000589076.6:c.*134G>A	ENSP00000466934.2:n.*134G>A
ENST00000589941.2:c.*134G>A	ENSP00000465874.2:n.*134G>A
ENST00000590061.2:c.*134G>A	ENSP00000464772.2:n.*134G>A
ENST00000593223.2:c.*1790G>A	ENSP00000466118.2:n.*1790G>A
ENST00000611848.2:c.*445G>A	ENSP00000478613.2:n.*445G>A
ENST00000684953.1:n.3808G>A
ENST00000685090.1:n.3723G>A
ENST00000685232.1:n.2014G>A
ENST00000688574.1:n.1901G>A
ENST00000691124.1:n.4754G>A
ENST00000342988.8:c.*134G>A MANE Select	ENSP00000341551.3:n.*134G>A
ENST00000342988.7:c.*134G>A	ENSP00000341551.3:n.*134G>A
ENST00000398417.6:c.*134G>A	ENSP00000381452.1:n.*134G>A
ENST00000586253.1:n.515G>A
ENST00000591126.5:n.3794G>A
ENST00000611848.1:c.1106G>A
NM_005359.5:c.*134G>A , LRG_318t1:c.*134G>A	NP_005350.1:n.*134G>A
NM_005359.6:c.*134G>A MANE Select	NP_005350.1:n.*134G>A