Canonical Allele Identifier: CA780229728

Gene: SMAD4

Linked Data

• dbSNP Id: rs1375464215
• gnomAD v3: 18-51067392-G-GT
• gnomAD v4: 18-51067392-G-GT
• MyVariant Identifiers: chr18:g.48593762_48593763insT (hg19) ; chr18:g.51067392_51067393insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067398dup , CM000680.2:g.51067398dup	GRCh38
NC_000018.9:g.48593768dup , CM000680.1:g.48593768dup	GRCh37
NC_000018.8:g.46847766dup	NCBI36
NG_013013.2:g.104359dup , LRG_318:g.104359dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+211dup	ENSP00000465878.2:n.1308+211dup
ENST00000589076.6:c.1308+211dup	ENSP00000466934.2:n.1308+211dup
ENST00000589941.2:c.1308+211dup	ENSP00000465874.2:n.1308+211dup
ENST00000590061.2:c.1308+211dup	ENSP00000464772.2:n.1308+211dup
ENST00000593223.2:c.1308+211dup	ENSP00000466118.2:n.1308+211dup
ENST00000611848.2:c.1308+211dup	ENSP00000478613.2:n.1308+211dup
ENST00000684953.1:n.2680+211dup
ENST00000685090.1:n.1759+211dup
ENST00000685232.1:n.1416+211dup
ENST00000688574.1:n.1416+211dup
ENST00000691124.1:n.2790+211dup
ENST00000342988.8:c.1308+211dup MANE Select	ENSP00000341551.3:n.1308+211dup
ENST00000342988.7:c.1308+211dup	ENSP00000341551.3:n.1308+211dup
ENST00000398417.6:c.1308+211dup	ENSP00000381452.1:n.1308+211dup
ENST00000588745.5:c.1020+211dup	ENSP00000464901.1:n.1020+211dup
ENST00000590499.1:n.366+211dup
ENST00000591126.5:n.3309+211dup
ENST00000592186.5:c.955+7482dup	ENSP00000468611.1:n.955+7482dup
ENST00000593223.1:c.75+211dup	ENSP00000466118.1:n.75+211dup
ENST00000611848.1:c.508+211dup
NM_005359.5:c.1308+211dup , LRG_318t1:c.1308+211dup	NP_005350.1:n.1308+211dup
NM_005359.6:c.1308+211dup MANE Select	NP_005350.1:n.1308+211dup