Canonical Allele Identifier: CA16615804

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 405503
• ClinVar RCV Id: RCV000464565
• dbSNP Id: rs754526507
• MyVariant Identifiers: chr18:g.48603149A>T (hg19) ; chr18:g.51076779A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51076779A>T , CM000680.2:g.51076779A>T	GRCh38
NC_000018.9:g.48603149A>T , CM000680.1:g.48603149A>T	GRCh37
NC_000018.8:g.46857147A>T	NCBI36
NG_013013.2:g.113740A>T , LRG_318:g.113740A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1447+3A>T	ENSP00000465878.2:n.1447+3A>T
ENST00000589076.6:c.1447+3A>T	ENSP00000466934.2:n.1447+3A>T
ENST00000589941.2:c.1447+3A>T	ENSP00000465874.2:n.1447+3A>T
ENST00000590061.2:c.1447+3A>T	ENSP00000464772.2:n.1447+3A>T
ENST00000593223.2:c.1450A>T	ENSP00000466118.2:p.Lys484Ter
ENST00000611848.2:c.1447+3A>T	ENSP00000478613.2:n.1447+3A>T
ENST00000684953.1:n.2822A>T
ENST00000685090.1:n.1901A>T
ENST00000685232.1:n.1555+3A>T
ENST00000688574.1:n.1555+3A>T
ENST00000691124.1:n.2932A>T
ENST00000342988.8:c.1447+3A>T MANE Select	ENSP00000341551.3:n.1447+3A>T
ENST00000342988.7:c.1447+3A>T	ENSP00000341551.3:n.1447+3A>T
ENST00000398417.6:c.1447+3A>T	ENSP00000381452.1:n.1447+3A>T
ENST00000588745.5:c.1159+3A>T	ENSP00000464901.1:n.1159+3A>T
ENST00000590499.1:n.505+3A>T
ENST00000591126.5:n.3448+3A>T
ENST00000592186.5:c.1094+3A>T	ENSP00000468611.1:n.1094+3A>T
ENST00000593223.1:c.217A>T	ENSP00000466118.1:p.Lys73Ter
ENST00000611848.1:c.647+3A>T
NM_005359.5:c.1447+3A>T , LRG_318t1:c.1447+3A>T	NP_005350.1:n.1447+3A>T
NM_005359.6:c.1447+3A>T MANE Select	NP_005350.1:n.1447+3A>T