Canonical Allele Identifier: CA503873963

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 699908
• ClinVar RCV Id: RCV001484588 ; RCV002390791 ; RCV003584772
• dbSNP Id: rs1555687539
• MyVariant Identifiers: chr18:g.48604642T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078272T>G , CM000680.2:g.51078272T>G	GRCh38
NC_000018.9:g.48604642T>G , CM000680.1:g.48604642T>G	GRCh37
NC_000018.8:g.46858640T>G	NCBI36
NG_013013.2:g.115233T>G , LRG_318:g.115233T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1464T>G	ENSP00000465878.2:p.Ala488=
ENST00000589076.6:c.1464T>G	ENSP00000466934.2:p.Ala488=
ENST00000589941.2:c.1464T>G	ENSP00000465874.2:p.Ala488=
ENST00000590061.2:c.1464T>G	ENSP00000464772.2:p.Ala488=
ENST00000593223.2:c.*1461T>G	ENSP00000466118.2:n.*1461T>G
ENST00000611848.2:c.*116T>G	ENSP00000478613.2:n.*116T>G
ENST00000684953.1:n.3479T>G
ENST00000685090.1:n.3394T>G
ENST00000685232.1:n.1685T>G
ENST00000688574.1:n.1572T>G
ENST00000691124.1:n.4425T>G
ENST00000342988.8:c.1464T>G MANE Select	ENSP00000341551.3:p.Ala488=
ENST00000342988.7:c.1464T>G	ENSP00000341551.3:p.Ala488=
ENST00000398417.6:c.1464T>G	ENSP00000381452.1:p.Ala488=
ENST00000586253.1:n.186T>G
ENST00000588745.5:c.1176T>G	ENSP00000464901.1:p.Ala392=
ENST00000591126.5:n.3465T>G
ENST00000592186.5:c.1111T>G	ENSP00000468611.1:n.1111T>G
ENST00000611848.1:c.777T>G
NM_005359.5:c.1464T>G , LRG_318t1:c.1464T>G	NP_005350.1:p.Ala488=
NM_005359.6:c.1464T>G MANE Select	NP_005350.1:p.Ala488=