Canonical Allele Identifier: CA990241878

Gene: SMAD4

Linked Data

• dbSNP Id: rs961003360
• gnomAD v3: 18-51049223-C-G
• gnomAD v4: 18-51049223-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51049223C>G , CM000680.2:g.51049223C>G	GRCh38
NC_000018.9:g.48575593C>G , CM000680.1:g.48575593C>G	GRCh37
NC_000018.8:g.46829591C>G	NCBI36
NG_013013.2:g.86184C>G , LRG_318:g.86184C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.425-72C>G	ENSP00000465878.2:n.425-72C>G
ENST00000589076.6:c.425-72C>G	ENSP00000466934.2:n.425-72C>G
ENST00000589941.2:c.425-72C>G	ENSP00000465874.2:n.425-72C>G
ENST00000590061.2:c.425-72C>G	ENSP00000464772.2:n.425-72C>G
ENST00000593223.2:c.425-72C>G	ENSP00000466118.2:n.425-72C>G
ENST00000611848.2:c.425-72C>G	ENSP00000478613.2:n.425-72C>G
ENST00000342988.8:c.425-72C>G MANE Select	ENSP00000341551.3:n.425-72C>G
ENST00000342988.7:c.425-72C>G	ENSP00000341551.3:n.425-72C>G
ENST00000398417.6:c.425-72C>G	ENSP00000381452.1:n.425-72C>G
ENST00000588745.5:c.425-72C>G	ENSP00000464901.1:n.425-72C>G
ENST00000589706.1:n.293-72C>G
ENST00000590722.2:c.*448-72C>G	ENSP00000465737.1:n.*448-72C>G
ENST00000591914.5:c.425-72C>G	ENSP00000466941.1:n.425-72C>G
ENST00000592186.5:c.425-72C>G	ENSP00000468611.1:n.425-72C>G
ENST00000592911.5:n.203-72C>G
NM_005359.5:c.425-72C>G , LRG_318t1:c.425-72C>G	NP_005350.1:n.425-72C>G
NM_005359.6:c.425-72C>G MANE Select	NP_005350.1:n.425-72C>G