Canonical Allele Identifier: CA990256194

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910532536
• gnomAD v3: 18-51078618-C-T
• gnomAD v4: 18-51078618-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078618C>T , CM000680.2:g.51078618C>T	GRCh38
NC_000018.9:g.48604988C>T , CM000680.1:g.48604988C>T	GRCh37
NC_000018.8:g.46858986C>T	NCBI36
NG_013013.2:g.115579C>T , LRG_318:g.115579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*151C>T	ENSP00000465878.2:n.*151C>T
ENST00000589076.6:c.*151C>T	ENSP00000466934.2:n.*151C>T
ENST00000589941.2:c.*151C>T	ENSP00000465874.2:n.*151C>T
ENST00000590061.2:c.*151C>T	ENSP00000464772.2:n.*151C>T
ENST00000593223.2:c.*1807C>T	ENSP00000466118.2:n.*1807C>T
ENST00000611848.2:c.*462C>T	ENSP00000478613.2:n.*462C>T
ENST00000684953.1:n.3825C>T
ENST00000685090.1:n.3740C>T
ENST00000685232.1:n.2031C>T
ENST00000688574.1:n.1918C>T
ENST00000691124.1:n.4771C>T
ENST00000342988.8:c.*151C>T MANE Select	ENSP00000341551.3:n.*151C>T
ENST00000342988.7:c.*151C>T	ENSP00000341551.3:n.*151C>T
ENST00000398417.6:c.*151C>T	ENSP00000381452.1:n.*151C>T
ENST00000586253.1:n.532C>T
ENST00000591126.5:n.3811C>T
ENST00000611848.1:c.1123C>T
NM_005359.5:c.*151C>T , LRG_318t1:c.*151C>T	NP_005350.1:n.*151C>T
NM_005359.6:c.*151C>T MANE Select	NP_005350.1:n.*151C>T