Canonical Allele Identifier: CA300092180

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1214821
• ClinVar RCV Id: RCV001583911
• dbSNP Id: rs543826723
• gnomAD v2: 18-48593770-T-TTTTA
• gnomAD v3: 18-51067400-T-TTTTA
• gnomAD v4: 18-51067400-T-TTTTA
• MyVariant Identifiers: chr18:g.48593782_48593783insTTTA (hg19) ; chr18:g.48593770_48593771insTTTA (hg19) ; chr18:g.51067412_51067413insTTTA (hg38) ; chr18:g.51067400_51067401insTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067424_51067427dup , CM000680.2:g.51067424_51067427dup	GRCh38
NC_000018.9:g.48593794_48593797dup , CM000680.1:g.48593794_48593797dup	GRCh37
NC_000018.8:g.46847792_46847795dup	NCBI36
NG_013013.2:g.104385_104388dup , LRG_318:g.104385_104388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+237_1308+240dup	ENSP00000465878.2:n.1308+237_1308+240dup
ENST00000589076.6:c.1308+237_1308+240dup	ENSP00000466934.2:n.1308+237_1308+240dup
ENST00000589941.2:c.1308+237_1308+240dup	ENSP00000465874.2:n.1308+237_1308+240dup
ENST00000590061.2:c.1308+237_1308+240dup	ENSP00000464772.2:n.1308+237_1308+240dup
ENST00000593223.2:c.1308+237_1308+240dup	ENSP00000466118.2:n.1308+237_1308+240dup
ENST00000611848.2:c.1308+237_1308+240dup	ENSP00000478613.2:n.1308+237_1308+240dup
ENST00000684953.1:n.2680+237_2680+240dup
ENST00000685090.1:n.1759+237_1759+240dup
ENST00000685232.1:n.1416+237_1416+240dup
ENST00000688574.1:n.1416+237_1416+240dup
ENST00000691124.1:n.2790+237_2790+240dup
ENST00000342988.8:c.1308+237_1308+240dup MANE Select	ENSP00000341551.3:n.1308+237_1308+240dup
ENST00000342988.7:c.1308+237_1308+240dup	ENSP00000341551.3:n.1308+237_1308+240dup
ENST00000398417.6:c.1308+237_1308+240dup	ENSP00000381452.1:n.1308+237_1308+240dup
ENST00000588745.5:c.1020+237_1020+240dup	ENSP00000464901.1:n.1020+237_1020+240dup
ENST00000590499.1:n.366+237_366+240dup
ENST00000591126.5:n.3309+237_3309+240dup
ENST00000592186.5:c.955+7508_955+7511dup	ENSP00000468611.1:n.955+7508_955+7511dup
ENST00000593223.1:c.75+237_75+240dup	ENSP00000466118.1:n.75+237_75+240dup
ENST00000611848.1:c.508+237_508+240dup
NM_005359.5:c.1308+237_1308+240dup , LRG_318t1:c.1308+237_1308+240dup	NP_005350.1:n.1308+237_1308+240dup
NM_005359.6:c.1308+237_1308+240dup MANE Select	NP_005350.1:n.1308+237_1308+240dup