Canonical Allele Identifier: CA2302986758

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910513072
• gnomAD v3: 18-51078021-C-CT
• gnomAD v4: 18-51078021-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078024dup , CM000680.2:g.51078024dup	GRCh38
NC_000018.9:g.48604394dup , CM000680.1:g.48604394dup	GRCh37
NC_000018.8:g.46858392dup	NCBI36
NG_013013.2:g.114985dup , LRG_318:g.114985dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1448-232dup	ENSP00000465878.2:n.1448-232dup
ENST00000589076.6:c.1448-232dup	ENSP00000466934.2:n.1448-232dup
ENST00000589941.2:c.1448-232dup	ENSP00000465874.2:n.1448-232dup
ENST00000590061.2:c.1448-232dup	ENSP00000464772.2:n.1448-232dup
ENST00000593223.2:c.*1213dup	ENSP00000466118.2:n.*1213dup
ENST00000611848.2:c.*100-232dup	ENSP00000478613.2:n.*100-232dup
ENST00000684953.1:n.3463-232dup
ENST00000685090.1:n.3146dup
ENST00000685232.1:n.1669-232dup
ENST00000688574.1:n.1556-232dup
ENST00000691124.1:n.4177dup
ENST00000342988.8:c.1448-232dup MANE Select	ENSP00000341551.3:n.1448-232dup
ENST00000342988.7:c.1448-232dup	ENSP00000341551.3:n.1448-232dup
ENST00000398417.6:c.1448-232dup	ENSP00000381452.1:n.1448-232dup
ENST00000586253.1:n.170-232dup
ENST00000588745.5:c.1160-232dup	ENSP00000464901.1:n.1160-232dup
ENST00000591126.5:n.3449-232dup
ENST00000592186.5:c.1095-232dup	ENSP00000468611.1:n.1095-232dup
ENST00000611848.1:c.761-232dup
NM_005359.5:c.1448-232dup , LRG_318t1:c.1448-232dup	NP_005350.1:n.1448-232dup
NM_005359.6:c.1448-232dup MANE Select	NP_005350.1:n.1448-232dup