Canonical Allele Identifier: CA2576506233

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078486-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078486C>A , CM000680.2:g.51078486C>A	GRCh38
NC_000018.9:g.48604856C>A , CM000680.1:g.48604856C>A	GRCh37
NC_000018.8:g.46858854C>A	NCBI36
NG_013013.2:g.115447C>A , LRG_318:g.115447C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*19C>A	ENSP00000465878.2:n.*19C>A
ENST00000589076.6:c.*19C>A	ENSP00000466934.2:n.*19C>A
ENST00000589941.2:c.*19C>A	ENSP00000465874.2:n.*19C>A
ENST00000590061.2:c.*19C>A	ENSP00000464772.2:n.*19C>A
ENST00000593223.2:c.*1675C>A	ENSP00000466118.2:n.*1675C>A
ENST00000611848.2:c.*330C>A	ENSP00000478613.2:n.*330C>A
ENST00000684953.1:n.3693C>A
ENST00000685090.1:n.3608C>A
ENST00000685232.1:n.1899C>A
ENST00000688574.1:n.1786C>A
ENST00000691124.1:n.4639C>A
ENST00000342988.8:c.*19C>A MANE Select	ENSP00000341551.3:n.*19C>A
ENST00000342988.7:c.*19C>A	ENSP00000341551.3:n.*19C>A
ENST00000398417.6:c.*19C>A	ENSP00000381452.1:n.*19C>A
ENST00000586253.1:n.400C>A
ENST00000591126.5:n.3679C>A
ENST00000611848.1:c.991C>A
NM_005359.5:c.*19C>A , LRG_318t1:c.*19C>A	NP_005350.1:n.*19C>A
NM_005359.6:c.*19C>A MANE Select	NP_005350.1:n.*19C>A