Canonical Allele Identifier: CA645609148

Gene: SMAD4

Linked Data

• dbSNP Id: rs1909960931
• COSMIC: COSM14167

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059921G>C , CM000680.2:g.51059921G>C	GRCh38
NC_000018.9:g.48586291G>C , CM000680.1:g.48586291G>C	GRCh37
NC_000018.8:g.46840289G>C	NCBI36
NG_013013.2:g.96882G>C , LRG_318:g.96882G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.955+5G>C	ENSP00000465878.2:n.955+5G>C
ENST00000589076.6:c.955+5G>C	ENSP00000466934.2:n.955+5G>C
ENST00000589941.2:c.955+5G>C	ENSP00000465874.2:n.955+5G>C
ENST00000590061.2:c.955+5G>C	ENSP00000464772.2:n.955+5G>C
ENST00000593223.2:c.955+5G>C	ENSP00000466118.2:n.955+5G>C
ENST00000611848.2:c.955+5G>C	ENSP00000478613.2:n.955+5G>C
ENST00000684953.1:n.2327+5G>C
ENST00000685090.1:n.1406+5G>C
ENST00000685232.1:n.1063+5G>C
ENST00000688307.1:n.206+5G>C
ENST00000688574.1:n.1063+5G>C
ENST00000688903.1:n.1169+5G>C
ENST00000690892.1:n.1068G>C
ENST00000342988.8:c.955+5G>C MANE Select	ENSP00000341551.3:n.955+5G>C
ENST00000342988.7:c.955+5G>C	ENSP00000341551.3:n.955+5G>C
ENST00000398417.6:c.955+5G>C	ENSP00000381452.1:n.955+5G>C
ENST00000588745.5:c.667+4928G>C	ENSP00000464901.1:n.667+4928G>C
ENST00000591126.5:n.2956+5G>C
ENST00000592186.5:c.955+5G>C	ENSP00000468611.1:n.955+5G>C
ENST00000611848.1:c.155+5G>C
NM_005359.5:c.955+5G>C , LRG_318t1:c.955+5G>C	NP_005350.1:n.955+5G>C
NM_005359.6:c.955+5G>C MANE Select	NP_005350.1:n.955+5G>C