Canonical Allele Identifier: CA2576506232

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078469-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078469G>A , CM000680.2:g.51078469G>A	GRCh38
NC_000018.9:g.48604839G>A , CM000680.1:g.48604839G>A	GRCh37
NC_000018.8:g.46858837G>A	NCBI36
NG_013013.2:g.115430G>A , LRG_318:g.115430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*2G>A	ENSP00000465878.2:n.*2G>A
ENST00000589076.6:c.*2G>A	ENSP00000466934.2:n.*2G>A
ENST00000589941.2:c.*2G>A	ENSP00000465874.2:n.*2G>A
ENST00000590061.2:c.*2G>A	ENSP00000464772.2:n.*2G>A
ENST00000593223.2:c.*1658G>A	ENSP00000466118.2:n.*1658G>A
ENST00000611848.2:c.*313G>A	ENSP00000478613.2:n.*313G>A
ENST00000684953.1:n.3676G>A
ENST00000685090.1:n.3591G>A
ENST00000685232.1:n.1882G>A
ENST00000688574.1:n.1769G>A
ENST00000691124.1:n.4622G>A
ENST00000342988.8:c.*2G>A MANE Select	ENSP00000341551.3:n.*2G>A
ENST00000342988.7:c.*2G>A	ENSP00000341551.3:n.*2G>A
ENST00000398417.6:c.*2G>A	ENSP00000381452.1:n.*2G>A
ENST00000586253.1:n.383G>A
ENST00000591126.5:n.3662G>A
ENST00000611848.1:c.974G>A
NM_005359.5:c.*2G>A , LRG_318t1:c.*2G>A	NP_005350.1:n.*2G>A
NM_005359.6:c.*2G>A MANE Select	NP_005350.1:n.*2G>A