Canonical Allele Identifier: CA16616086

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 405497
• ClinVar RCV Id: RCV000469223 ; RCV002221235
• dbSNP Id: rs1060500740
• MyVariant Identifiers: chr18:g.48603148T>C (hg19) ; chr18:g.51076778T>C (hg38)
• MutSpliceDB: CA16616086

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51076778T>C , CM000680.2:g.51076778T>C	GRCh38
NC_000018.9:g.48603148T>C , CM000680.1:g.48603148T>C	GRCh37
NC_000018.8:g.46857146T>C	NCBI36
NG_013013.2:g.113739T>C , LRG_318:g.113739T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1447+2T>C	ENSP00000465878.2:n.1447+2T>C
ENST00000589076.6:c.1447+2T>C	ENSP00000466934.2:n.1447+2T>C
ENST00000589941.2:c.1447+2T>C	ENSP00000465874.2:n.1447+2T>C
ENST00000590061.2:c.1447+2T>C	ENSP00000464772.2:n.1447+2T>C
ENST00000593223.2:c.1449T>C	ENSP00000466118.2:p.Ser483=
ENST00000611848.2:c.1447+2T>C	ENSP00000478613.2:n.1447+2T>C
ENST00000684953.1:n.2821T>C
ENST00000685090.1:n.1900T>C
ENST00000685232.1:n.1555+2T>C
ENST00000688574.1:n.1555+2T>C
ENST00000691124.1:n.2931T>C
ENST00000342988.8:c.1447+2T>C MANE Select	ENSP00000341551.3:n.1447+2T>C
ENST00000342988.7:c.1447+2T>C	ENSP00000341551.3:n.1447+2T>C
ENST00000398417.6:c.1447+2T>C	ENSP00000381452.1:n.1447+2T>C
ENST00000588745.5:c.1159+2T>C	ENSP00000464901.1:n.1159+2T>C
ENST00000590499.1:n.505+2T>C
ENST00000591126.5:n.3448+2T>C
ENST00000592186.5:c.1094+2T>C	ENSP00000468611.1:n.1094+2T>C
ENST00000593223.1:c.216T>C	ENSP00000466118.1:p.Ser72=
ENST00000611848.1:c.647+2T>C
NM_005359.5:c.1447+2T>C , LRG_318t1:c.1447+2T>C	NP_005350.1:n.1447+2T>C
NM_005359.6:c.1447+2T>C MANE Select	NP_005350.1:n.1447+2T>C