Canonical Allele Identifier: CA990256188

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910532416
• gnomAD v3: 18-51078609-C-T
• gnomAD v4: 18-51078609-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078609C>T , CM000680.2:g.51078609C>T	GRCh38
NC_000018.9:g.48604979C>T , CM000680.1:g.48604979C>T	GRCh37
NC_000018.8:g.46858977C>T	NCBI36
NG_013013.2:g.115570C>T , LRG_318:g.115570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*142C>T	ENSP00000465878.2:n.*142C>T
ENST00000589076.6:c.*142C>T	ENSP00000466934.2:n.*142C>T
ENST00000589941.2:c.*142C>T	ENSP00000465874.2:n.*142C>T
ENST00000590061.2:c.*142C>T	ENSP00000464772.2:n.*142C>T
ENST00000593223.2:c.*1798C>T	ENSP00000466118.2:n.*1798C>T
ENST00000611848.2:c.*453C>T	ENSP00000478613.2:n.*453C>T
ENST00000684953.1:n.3816C>T
ENST00000685090.1:n.3731C>T
ENST00000685232.1:n.2022C>T
ENST00000688574.1:n.1909C>T
ENST00000691124.1:n.4762C>T
ENST00000342988.8:c.*142C>T MANE Select	ENSP00000341551.3:n.*142C>T
ENST00000342988.7:c.*142C>T	ENSP00000341551.3:n.*142C>T
ENST00000398417.6:c.*142C>T	ENSP00000381452.1:n.*142C>T
ENST00000586253.1:n.523C>T
ENST00000591126.5:n.3802C>T
ENST00000611848.1:c.1114C>T
NM_005359.5:c.*142C>T , LRG_318t1:c.*142C>T	NP_005350.1:n.*142C>T
NM_005359.6:c.*142C>T MANE Select	NP_005350.1:n.*142C>T