Canonical Allele Identifier: CA16620702

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 418499
• ClinVar RCV Id: RCV000481001
• dbSNP Id: rs1064793271
• MyVariant Identifiers: chr18:g.48584496_48584518del (hg19) ; chr18:g.51058126_51058148del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058126_51058148del , CM000680.2:g.51058126_51058148del	GRCh38
NC_000018.9:g.48584496_48584518del , CM000680.1:g.48584496_48584518del	GRCh37
NC_000018.8:g.46838494_46838516del	NCBI36
NG_013013.2:g.95087_95109del , LRG_318:g.95087_95109del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.669_691del
ENST00000589076.6:c.669_691del
ENST00000589941.2:c.669_691del
ENST00000590061.2:c.669_691del
ENST00000593223.2:c.669_691del
ENST00000611848.2:c.669_691del
ENST00000684953.1:n.2041_2063del
ENST00000685232.1:n.777_799del
ENST00000688307.1:n.156-1740_156-1718del
ENST00000688574.1:n.777_799del
ENST00000688903.1:n.883_905del
ENST00000690892.1:n.777_799del
ENST00000342988.8:c.669_691del
ENST00000342988.7:c.669_691del
ENST00000398417.6:c.669_691del
ENST00000588745.5:c.667+3133_667+3155del	ENSP00000464901.1:n.667+3133_667+3155del
ENST00000591126.5:n.2670_2692del
ENST00000592186.5:c.669_691del
ENST00000592911.5:n.447_469del
NM_005359.5:c.669_691del , LRG_318t1:c.669_691del
NM_005359.6:c.669_691del