Canonical Allele Identifier: CA2302971770

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 3074351
• ClinVar RCV Id: RCV004012893
• dbSNP Id: rs1909564738

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047040del , CM000680.2:g.51047040del	GRCh38
NC_000018.9:g.48573410del , CM000680.1:g.48573410del	GRCh37
NC_000018.8:g.46827408del	NCBI36
NG_013013.2:g.84001del , LRG_318:g.84001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-7del	ENSP00000465878.2:n.-7del
ENST00000589076.6:c.-7del	ENSP00000466934.2:n.-7del
ENST00000589941.2:c.-7del	ENSP00000465874.2:n.-7del
ENST00000590061.2:c.-7del	ENSP00000464772.2:n.-7del
ENST00000593223.2:c.-7del	ENSP00000466118.2:n.-7del
ENST00000611848.2:c.-7del	ENSP00000478613.2:n.-7del
ENST00000342988.8:c.-7del MANE Select	ENSP00000341551.3:n.-7del
ENST00000342988.7:c.-7del	ENSP00000341551.3:n.-7del
ENST00000398417.6:c.-7del	ENSP00000381452.1:n.-7del
ENST00000588256.1:n.455del
ENST00000588860.5:c.-7del	ENSP00000465878.1:n.-7del
ENST00000589076.5:c.-7del	ENSP00000466934.1:n.-7del
ENST00000589941.1:c.-7del	ENSP00000465874.1:n.-7del
ENST00000590061.1:c.-7del	ENSP00000464772.1:n.-7del
ENST00000590722.2:c.*17del	ENSP00000465737.1:n.*17del
ENST00000591914.5:c.-7del	ENSP00000466941.1:n.-7del
ENST00000592911.5:n.28-1646del
NM_005359.5:c.-7del , LRG_318t1:c.-7del	NP_005350.1:n.-7del
NM_005359.6:c.-7del MANE Select	NP_005350.1:n.-7del