Canonical Allele Identifier: CA913188973

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 628284
• ClinVar RCV Id: RCV000772699 ; RCV002534029
• dbSNP Id: rs1568208314

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065623C>T , CM000680.2:g.51065623C>T	GRCh38
NC_000018.9:g.48591993C>T , CM000680.1:g.48591993C>T	GRCh37
NC_000018.8:g.46845991C>T	NCBI36
NG_013013.2:g.102584C>T , LRG_318:g.102584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+17C>T	ENSP00000465878.2:n.1139+17C>T
ENST00000589076.6:c.1139+17C>T	ENSP00000466934.2:n.1139+17C>T
ENST00000589941.2:c.1139+17C>T	ENSP00000465874.2:n.1139+17C>T
ENST00000590061.2:c.1139+17C>T	ENSP00000464772.2:n.1139+17C>T
ENST00000593223.2:c.1139+17C>T	ENSP00000466118.2:n.1139+17C>T
ENST00000611848.2:c.1139+17C>T	ENSP00000478613.2:n.1139+17C>T
ENST00000684953.1:n.2511+17C>T
ENST00000685090.1:n.1590+17C>T
ENST00000685232.1:n.1247+17C>T
ENST00000688307.1:n.407C>T
ENST00000688574.1:n.1247+17C>T
ENST00000688903.1:n.1370C>T
ENST00000691124.1:n.2621+17C>T
ENST00000342988.8:c.1139+17C>T MANE Select	ENSP00000341551.3:n.1139+17C>T
ENST00000342988.7:c.1139+17C>T	ENSP00000341551.3:n.1139+17C>T
ENST00000398417.6:c.1139+17C>T	ENSP00000381452.1:n.1139+17C>T
ENST00000588745.5:c.851+17C>T	ENSP00000464901.1:n.851+17C>T
ENST00000591126.5:n.3140+17C>T
ENST00000592186.5:c.955+5707C>T	ENSP00000468611.1:n.955+5707C>T
ENST00000611848.1:c.339+17C>T
NM_005359.5:c.1139+17C>T , LRG_318t1:c.1139+17C>T	NP_005350.1:n.1139+17C>T
NM_005359.6:c.1139+17C>T MANE Select	NP_005350.1:n.1139+17C>T