Canonical Allele Identifier: CA189448

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 24850
• ClinVar RCV Id: RCV000023059 ; RCV000493396 ; RCV001374448 ; RCV001376567 ; RCV002310634
• dbSNP Id: rs377767360
• ExAC: 18:48603032 C / T
• gnomAD v2: 18-48603032-C-T
• gnomAD v4: 18-51076662-C-T
• COSMIC: COSM14096
• MyVariant Identifiers: chr18:g.48603032C>T (hg19) ; chr18:g.51076662C>T (hg38)
• PubMed: PMID:10479724 ; PMID:10764709 ; PMID:16152648 ; PMID:21465659 ; PMID:23239472 ; PMID:25931195

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51076662C>T , CM000680.2:g.51076662C>T	GRCh38
NC_000018.9:g.48603032C>T , CM000680.1:g.48603032C>T	GRCh37
NC_000018.8:g.46857030C>T	NCBI36
NG_013013.2:g.113623C>T , LRG_318:g.113623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1333C>T	ENSP00000465878.2:p.Arg445Ter
ENST00000589076.6:c.1333C>T	ENSP00000466934.2:p.Arg445Ter
ENST00000589941.2:c.1333C>T	ENSP00000465874.2:p.Arg445Ter
ENST00000590061.2:c.1333C>T	ENSP00000464772.2:p.Arg445Ter
ENST00000593223.2:c.1333C>T	ENSP00000466118.2:p.Arg445Ter
ENST00000611848.2:c.1333C>T	ENSP00000478613.2:p.Arg445Ter
ENST00000684953.1:n.2705C>T
ENST00000685090.1:n.1784C>T
ENST00000685232.1:n.1441C>T
ENST00000688574.1:n.1441C>T
ENST00000691124.1:n.2815C>T
ENST00000342988.8:c.1333C>T MANE Select	ENSP00000341551.3:p.Arg445Ter
ENST00000342988.7:c.1333C>T	ENSP00000341551.3:p.Arg445Ter
ENST00000398417.6:c.1333C>T	ENSP00000381452.1:p.Arg445Ter
ENST00000588745.5:c.1045C>T	ENSP00000464901.1:p.Arg349Ter
ENST00000590499.1:n.391C>T
ENST00000591126.5:n.3334C>T
ENST00000592186.5:c.980C>T	ENSP00000468611.1:n.980C>T
ENST00000593223.1:c.100C>T	ENSP00000466118.1:p.Arg34Ter
ENST00000611848.1:c.533C>T
NM_005359.5:c.1333C>T , LRG_318t1:c.1333C>T	NP_005350.1:p.Arg445Ter
NM_005359.6:c.1333C>T MANE Select	NP_005350.1:p.Arg445Ter