Canonical Allele Identifier: CA503873140

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144399606
• gnomAD v4: 18-51046961-A-G
• MyVariant Identifiers: chr18:g.48573331A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51046961A>G , CM000680.2:g.51046961A>G	GRCh38
NC_000018.9:g.48573331A>G , CM000680.1:g.48573331A>G	GRCh37
NC_000018.8:g.46827329A>G	NCBI36
NG_013013.2:g.83922A>G , LRG_318:g.83922A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.-86A>G	ENSP00000465878.2:n.-86A>G
ENST00000589076.6:c.-86A>G	ENSP00000466934.2:n.-86A>G
ENST00000589941.2:c.-86A>G	ENSP00000465874.2:n.-86A>G
ENST00000590061.2:c.-59-27A>G	ENSP00000464772.2:n.-59-27A>G
ENST00000593223.2:c.-86A>G	ENSP00000466118.2:n.-86A>G
ENST00000611848.2:c.-86A>G	ENSP00000478613.2:n.-86A>G
ENST00000342988.8:c.-86A>G MANE Select	ENSP00000341551.3:n.-86A>G
ENST00000342988.7:c.-86A>G	ENSP00000341551.3:n.-86A>G
ENST00000398417.6:c.-86A>G	ENSP00000381452.1:n.-86A>G
ENST00000588256.1:n.376A>G
ENST00000588860.5:c.-86A>G	ENSP00000465878.1:n.-86A>G
ENST00000589076.5:c.-86A>G	ENSP00000466934.1:n.-86A>G
ENST00000589941.1:c.-86A>G	ENSP00000465874.1:n.-86A>G
ENST00000590061.1:c.-59-27A>G	ENSP00000464772.1:n.-59-27A>G
ENST00000590722.2:c.199A>G	ENSP00000465737.1:p.Ser67Gly
ENST00000591914.5:c.-86A>G	ENSP00000466941.1:n.-86A>G
ENST00000592911.5:n.28-1725A>G
NM_005359.5:c.-86A>G , LRG_318t1:c.-86A>G	NP_005350.1:n.-86A>G
NM_005359.6:c.-86A>G MANE Select	NP_005350.1:n.-86A>G