Canonical Allele Identifier: CA10580985

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 233663
• ClinVar RCV Id: RCV001071904 ; RCV002310816
• dbSNP Id: rs876660556
• COSMIC: COSM1152201
• MyVariant Identifiers: chr18:g.48591925G>A (hg19) ; chr18:g.51065555G>A (hg38)
• PubMed: PMID:17873119 ; PMID:23139211 ; PMID:23399955

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065555G>A , CM000680.2:g.51065555G>A	GRCh38
NC_000018.9:g.48591925G>A , CM000680.1:g.48591925G>A	GRCh37
NC_000018.8:g.46845923G>A	NCBI36
NG_013013.2:g.102516G>A , LRG_318:g.102516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1088G>A	ENSP00000465878.2:p.Cys363Tyr
ENST00000589076.6:c.1088G>A	ENSP00000466934.2:p.Cys363Tyr
ENST00000589941.2:c.1088G>A	ENSP00000465874.2:p.Cys363Tyr
ENST00000590061.2:c.1088G>A	ENSP00000464772.2:p.Cys363Tyr
ENST00000593223.2:c.1088G>A	ENSP00000466118.2:p.Cys363Tyr
ENST00000611848.2:c.1088G>A	ENSP00000478613.2:p.Cys363Tyr
ENST00000684953.1:n.2460G>A
ENST00000685090.1:n.1539G>A
ENST00000685232.1:n.1196G>A
ENST00000688307.1:n.339G>A
ENST00000688574.1:n.1196G>A
ENST00000688903.1:n.1302G>A
ENST00000691124.1:n.2570G>A
ENST00000342988.8:c.1088G>A MANE Select	ENSP00000341551.3:p.Cys363Tyr
ENST00000342988.7:c.1088G>A	ENSP00000341551.3:p.Cys363Tyr
ENST00000398417.6:c.1088G>A	ENSP00000381452.1:p.Cys363Tyr
ENST00000588745.5:c.800G>A	ENSP00000464901.1:p.Cys267Tyr
ENST00000591126.5:n.3089G>A
ENST00000592186.5:c.955+5639G>A	ENSP00000468611.1:n.955+5639G>A
ENST00000611848.1:c.288G>A
NM_005359.5:c.1088G>A , LRG_318t1:c.1088G>A	NP_005350.1:p.Cys363Tyr
NM_005359.6:c.1088G>A MANE Select	NP_005350.1:p.Cys363Tyr