Canonical Allele Identifier: CA915951535

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 762231
• ClinVar RCV Id: RCV000940362
• dbSNP Id: rs1295343500

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065419A>T , CM000680.2:g.51065419A>T	GRCh38
NC_000018.9:g.48591789A>T , CM000680.1:g.48591789A>T	GRCh37
NC_000018.8:g.46845787A>T	NCBI36
NG_013013.2:g.102380A>T , LRG_318:g.102380A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.956-4A>T	ENSP00000465878.2:n.956-4A>T
ENST00000589076.6:c.956-4A>T	ENSP00000466934.2:n.956-4A>T
ENST00000589941.2:c.956-4A>T	ENSP00000465874.2:n.956-4A>T
ENST00000590061.2:c.956-4A>T	ENSP00000464772.2:n.956-4A>T
ENST00000593223.2:c.956-4A>T	ENSP00000466118.2:n.956-4A>T
ENST00000611848.2:c.956-4A>T	ENSP00000478613.2:n.956-4A>T
ENST00000684953.1:n.2328-4A>T
ENST00000685090.1:n.1407-4A>T
ENST00000685232.1:n.1064-4A>T
ENST00000688307.1:n.207-4A>T
ENST00000688574.1:n.1064-4A>T
ENST00000688903.1:n.1170-4A>T
ENST00000691124.1:n.2434A>T
ENST00000342988.8:c.956-4A>T MANE Select	ENSP00000341551.3:n.956-4A>T
ENST00000342988.7:c.956-4A>T	ENSP00000341551.3:n.956-4A>T
ENST00000398417.6:c.956-4A>T	ENSP00000381452.1:n.956-4A>T
ENST00000588745.5:c.668-4A>T	ENSP00000464901.1:n.668-4A>T
ENST00000591126.5:n.2957-4A>T
ENST00000592186.5:c.955+5503A>T	ENSP00000468611.1:n.955+5503A>T
ENST00000611848.1:c.156-4A>T
NM_005359.5:c.956-4A>T , LRG_318t1:c.956-4A>T	NP_005350.1:n.956-4A>T
NM_005359.6:c.956-4A>T MANE Select	NP_005350.1:n.956-4A>T