Canonical Allele Identifier: CA8966019

Gene: SMAD4

Linked Data

• dbSNP Id: rs765405495
• ExAC: 18:48593401 C / G
• gnomAD v2: 18-48593401-C-G
• gnomAD v4: 18-51067031-C-G
• MyVariant Identifiers: chr18:g.48593401C>G (hg19) ; chr18:g.51067031C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067031C>G , CM000680.2:g.51067031C>G	GRCh38
NC_000018.9:g.48593401C>G , CM000680.1:g.48593401C>G	GRCh37
NC_000018.8:g.46847399C>G	NCBI36
NG_013013.2:g.103992C>G , LRG_318:g.103992C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1152C>G	ENSP00000465878.2:p.Gly384=
ENST00000589076.6:c.1152C>G	ENSP00000466934.2:p.Gly384=
ENST00000589941.2:c.1152C>G	ENSP00000465874.2:p.Gly384=
ENST00000590061.2:c.1152C>G	ENSP00000464772.2:p.Gly384=
ENST00000593223.2:c.1152C>G	ENSP00000466118.2:p.Gly384=
ENST00000611848.2:c.1152C>G	ENSP00000478613.2:p.Gly384=
ENST00000684953.1:n.2524C>G
ENST00000685090.1:n.1603C>G
ENST00000685232.1:n.1260C>G
ENST00000688574.1:n.1260C>G
ENST00000691124.1:n.2634C>G
ENST00000342988.8:c.1152C>G MANE Select	ENSP00000341551.3:p.Gly384=
ENST00000342988.7:c.1152C>G	ENSP00000341551.3:p.Gly384=
ENST00000398417.6:c.1152C>G	ENSP00000381452.1:p.Gly384=
ENST00000588745.5:c.864C>G	ENSP00000464901.1:p.Gly288=
ENST00000590499.1:n.210C>G
ENST00000591126.5:n.3153C>G
ENST00000592186.5:c.955+7115C>G	ENSP00000468611.1:n.955+7115C>G
ENST00000611848.1:c.352C>G
NM_005359.5:c.1152C>G , LRG_318t1:c.1152C>G	NP_005350.1:p.Gly384=
NM_005359.6:c.1152C>G MANE Select	NP_005350.1:p.Gly384=