Canonical Allele Identifier: CA629588536

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 3029099
• ClinVar RCV Id: RCV003893756
• dbSNP Id: rs1396403594
• gnomAD v2: 18-48592250-A-AT
• gnomAD v3: 18-51065880-A-AT
• gnomAD v4: 18-51065880-A-AT
• MyVariant Identifiers: chr18:g.48592250_48592251insT (hg19) ; chr18:g.51065880_51065881insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065884dup , CM000680.2:g.51065884dup	GRCh38
NC_000018.9:g.48592254dup , CM000680.1:g.48592254dup	GRCh37
NC_000018.8:g.46846252dup	NCBI36
NG_013013.2:g.102845dup , LRG_318:g.102845dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+278dup	ENSP00000465878.2:n.1139+278dup
ENST00000589076.6:c.1139+278dup	ENSP00000466934.2:n.1139+278dup
ENST00000589941.2:c.1139+278dup	ENSP00000465874.2:n.1139+278dup
ENST00000590061.2:c.1139+278dup	ENSP00000464772.2:n.1139+278dup
ENST00000593223.2:c.1139+278dup	ENSP00000466118.2:n.1139+278dup
ENST00000611848.2:c.1139+278dup	ENSP00000478613.2:n.1139+278dup
ENST00000684953.1:n.2511+278dup
ENST00000685090.1:n.1590+278dup
ENST00000685232.1:n.1247+278dup
ENST00000688307.1:n.668dup
ENST00000688574.1:n.1247+278dup
ENST00000688903.1:n.1631dup
ENST00000691124.1:n.2621+278dup
ENST00000342988.8:c.1139+278dup MANE Select	ENSP00000341551.3:n.1139+278dup
ENST00000342988.7:c.1139+278dup	ENSP00000341551.3:n.1139+278dup
ENST00000398417.6:c.1139+278dup	ENSP00000381452.1:n.1139+278dup
ENST00000588745.5:c.851+278dup	ENSP00000464901.1:n.851+278dup
ENST00000591126.5:n.3140+278dup
ENST00000592186.5:c.955+5968dup	ENSP00000468611.1:n.955+5968dup
ENST00000611848.1:c.339+278dup
NM_005359.5:c.1139+278dup , LRG_318t1:c.1139+278dup	NP_005350.1:n.1139+278dup
NM_005359.6:c.1139+278dup MANE Select	NP_005350.1:n.1139+278dup