Canonical Allele Identifier: CA658799061

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 529916
• ClinVar RCV Id: RCV002233984
• dbSNP Id: rs1555686086
• MyVariant Identifiers: chr18:g.48586287del (hg19) ; chr18:g.51059917del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059917del , CM000680.2:g.51059917del	GRCh38
NC_000018.9:g.48586287del , CM000680.1:g.48586287del	GRCh37
NC_000018.8:g.46840285del	NCBI36
NG_013013.2:g.96878del , LRG_318:g.96878del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.955+1del
ENST00000589076.6:c.955+1del
ENST00000589941.2:c.955+1del
ENST00000590061.2:c.955+1del
ENST00000593223.2:c.955+1del
ENST00000611848.2:c.955+1del
ENST00000684953.1:n.2327+1del
ENST00000685090.1:n.1406+1del
ENST00000685232.1:n.1063+1del
ENST00000688307.1:n.206+1del
ENST00000688574.1:n.1063+1del
ENST00000688903.1:n.1169+1del
ENST00000690892.1:n.1064del
ENST00000342988.8:c.955+1del
ENST00000342988.7:c.955+1del
ENST00000398417.6:c.955+1del
ENST00000588745.5:c.667+4924del	ENSP00000464901.1:n.667+4924del
ENST00000591126.5:n.2956+1del
ENST00000592186.5:c.955+1del
ENST00000611848.1:c.155+1del
NM_005359.5:c.955+1del , LRG_318t1:c.955+1del
NM_005359.6:c.955+1del