Canonical Allele Identifier: CA10580983

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 229898
• ClinVar RCV Id: RCV000213480 ; RCV001857758 ; RCV002310801
• dbSNP Id: rs876658257
• gnomAD v4: 18-51059891-C-G
• COSMIC: COSM164467
• MyVariant Identifiers: chr18:g.48586261C>G (hg19) ; chr18:g.51059891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059891C>G , CM000680.2:g.51059891C>G	GRCh38
NC_000018.9:g.48586261C>G , CM000680.1:g.48586261C>G	GRCh37
NC_000018.8:g.46840259C>G	NCBI36
NG_013013.2:g.96852C>G , LRG_318:g.96852C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.930C>G	ENSP00000465878.2:p.Phe310Leu
ENST00000589076.6:c.930C>G	ENSP00000466934.2:p.Phe310Leu
ENST00000589941.2:c.930C>G	ENSP00000465874.2:p.Phe310Leu
ENST00000590061.2:c.930C>G	ENSP00000464772.2:p.Phe310Leu
ENST00000593223.2:c.930C>G	ENSP00000466118.2:p.Phe310Leu
ENST00000611848.2:c.930C>G	ENSP00000478613.2:p.Phe310Leu
ENST00000684953.1:n.2302C>G
ENST00000685090.1:n.1381C>G
ENST00000685232.1:n.1038C>G
ENST00000688307.1:n.181C>G
ENST00000688574.1:n.1038C>G
ENST00000688903.1:n.1144C>G
ENST00000690892.1:n.1038C>G
ENST00000342988.8:c.930C>G MANE Select	ENSP00000341551.3:p.Phe310Leu
ENST00000342988.7:c.930C>G	ENSP00000341551.3:p.Phe310Leu
ENST00000398417.6:c.930C>G	ENSP00000381452.1:p.Phe310Leu
ENST00000588745.5:c.667+4898C>G	ENSP00000464901.1:n.667+4898C>G
ENST00000591126.5:n.2931C>G
ENST00000592186.5:c.930C>G	ENSP00000468611.1:p.Phe310Leu
ENST00000611848.1:c.130C>G
NM_005359.5:c.930C>G , LRG_318t1:c.930C>G	NP_005350.1:p.Phe310Leu
NM_005359.6:c.930C>G MANE Select	NP_005350.1:p.Phe310Leu