Canonical Allele Identifier: CA629926581

Gene: SMAD4

Linked Data

• dbSNP Id: rs1431378911
• gnomAD v2: 18-48584680-A-G
• gnomAD v4: 18-51058310-A-G
• MyVariant Identifiers: chr18:g.48584680A>G (hg19) ; chr18:g.51058310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058310A>G , CM000680.2:g.51058310A>G	GRCh38
NC_000018.9:g.48584680A>G , CM000680.1:g.48584680A>G	GRCh37
NC_000018.8:g.46838678A>G	NCBI36
NG_013013.2:g.95271A>G , LRG_318:g.95271A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.788-30A>G	ENSP00000465878.2:n.788-30A>G
ENST00000589076.6:c.788-30A>G	ENSP00000466934.2:n.788-30A>G
ENST00000589941.2:c.788-30A>G	ENSP00000465874.2:n.788-30A>G
ENST00000590061.2:c.788-30A>G	ENSP00000464772.2:n.788-30A>G
ENST00000593223.2:c.788-30A>G	ENSP00000466118.2:n.788-30A>G
ENST00000611848.2:c.788-30A>G	ENSP00000478613.2:n.788-30A>G
ENST00000684953.1:n.2160-30A>G
ENST00000685232.1:n.896-30A>G
ENST00000688307.1:n.156-1556A>G
ENST00000688574.1:n.896-30A>G
ENST00000688903.1:n.1002-30A>G
ENST00000690892.1:n.896-30A>G
ENST00000342988.8:c.788-30A>G MANE Select	ENSP00000341551.3:n.788-30A>G
ENST00000342988.7:c.788-30A>G	ENSP00000341551.3:n.788-30A>G
ENST00000398417.6:c.788-30A>G	ENSP00000381452.1:n.788-30A>G
ENST00000588745.5:c.667+3317A>G	ENSP00000464901.1:n.667+3317A>G
ENST00000591126.5:n.2789-30A>G
ENST00000592186.5:c.788-30A>G	ENSP00000468611.1:n.788-30A>G
NM_005359.5:c.788-30A>G , LRG_318t1:c.788-30A>G	NP_005350.1:n.788-30A>G
NM_005359.6:c.788-30A>G MANE Select	NP_005350.1:n.788-30A>G