Canonical Allele Identifier: CA2641839447

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078521-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078521C>A , CM000680.2:g.51078521C>A	GRCh38
NC_000018.9:g.48604891C>A , CM000680.1:g.48604891C>A	GRCh37
NC_000018.8:g.46858889C>A	NCBI36
NG_013013.2:g.115482C>A , LRG_318:g.115482C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*54C>A	ENSP00000465878.2:n.*54C>A
ENST00000589076.6:c.*54C>A	ENSP00000466934.2:n.*54C>A
ENST00000589941.2:c.*54C>A	ENSP00000465874.2:n.*54C>A
ENST00000590061.2:c.*54C>A	ENSP00000464772.2:n.*54C>A
ENST00000593223.2:c.*1710C>A	ENSP00000466118.2:n.*1710C>A
ENST00000611848.2:c.*365C>A	ENSP00000478613.2:n.*365C>A
ENST00000684953.1:n.3728C>A
ENST00000685090.1:n.3643C>A
ENST00000685232.1:n.1934C>A
ENST00000688574.1:n.1821C>A
ENST00000691124.1:n.4674C>A
ENST00000342988.8:c.*54C>A MANE Select	ENSP00000341551.3:n.*54C>A
ENST00000342988.7:c.*54C>A	ENSP00000341551.3:n.*54C>A
ENST00000398417.6:c.*54C>A	ENSP00000381452.1:n.*54C>A
ENST00000586253.1:n.435C>A
ENST00000591126.5:n.3714C>A
ENST00000611848.1:c.1026C>A
NM_005359.5:c.*54C>A , LRG_318t1:c.*54C>A	NP_005350.1:n.*54C>A
NM_005359.6:c.*54C>A MANE Select	NP_005350.1:n.*54C>A