Canonical Allele Identifier: CA2573155354

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1448680
• ClinVar RCV Id: RCV001980186
• dbSNP Id: rs2144446798

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065484dup , CM000680.2:g.51065484dup	GRCh38
NC_000018.9:g.48591854dup , CM000680.1:g.48591854dup	GRCh37
NC_000018.8:g.46845852dup	NCBI36
NG_013013.2:g.102445dup , LRG_318:g.102445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1017dup	ENSP00000465878.2:p.Lys340Ter
ENST00000589076.6:c.1017dup	ENSP00000466934.2:p.Lys340Ter
ENST00000589941.2:c.1017dup	ENSP00000465874.2:p.Lys340Ter
ENST00000590061.2:c.1017dup	ENSP00000464772.2:p.Lys340Ter
ENST00000593223.2:c.1017dup	ENSP00000466118.2:p.Lys340Ter
ENST00000611848.2:c.1017dup	ENSP00000478613.2:p.Lys340Ter
ENST00000684953.1:n.2389dup
ENST00000685090.1:n.1468dup
ENST00000685232.1:n.1125dup
ENST00000688307.1:n.268dup
ENST00000688574.1:n.1125dup
ENST00000688903.1:n.1231dup
ENST00000691124.1:n.2499dup
ENST00000342988.8:c.1017dup MANE Select	ENSP00000341551.3:p.Lys340Ter
ENST00000342988.7:c.1017dup	ENSP00000341551.3:p.Lys340Ter
ENST00000398417.6:c.1017dup	ENSP00000381452.1:p.Lys340Ter
ENST00000588745.5:c.729dup	ENSP00000464901.1:p.Lys244Ter
ENST00000591126.5:n.3018dup
ENST00000592186.5:c.955+5568dup	ENSP00000468611.1:n.955+5568dup
ENST00000611848.1:c.217dup
NM_005359.5:c.1017dup , LRG_318t1:c.1017dup	NP_005350.1:p.Lys340Ter
NM_005359.6:c.1017dup MANE Select	NP_005350.1:p.Lys340Ter