Canonical Allele Identifier: CA402457354

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2073997
• ClinVar RCV Id: RCV002975984
• dbSNP Id: rs2144400485
• gnomAD v4: 18-51047090-C-T
• MyVariant Identifiers: chr18:g.48573460C>T (hg19) ; chr18:g.51047090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047090C>T , CM000680.2:g.51047090C>T	GRCh38
NC_000018.9:g.48573460C>T , CM000680.1:g.48573460C>T	GRCh37
NC_000018.8:g.46827458C>T	NCBI36
NG_013013.2:g.84051C>T , LRG_318:g.84051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.44C>T	ENSP00000465878.2:p.Ala15Val
ENST00000589076.6:c.44C>T	ENSP00000466934.2:p.Ala15Val
ENST00000589941.2:c.44C>T	ENSP00000465874.2:p.Ala15Val
ENST00000590061.2:c.44C>T	ENSP00000464772.2:p.Ala15Val
ENST00000593223.2:c.44C>T	ENSP00000466118.2:p.Ala15Val
ENST00000611848.2:c.44C>T	ENSP00000478613.2:p.Ala15Val
ENST00000342988.8:c.44C>T MANE Select	ENSP00000341551.3:p.Ala15Val
ENST00000342988.7:c.44C>T	ENSP00000341551.3:p.Ala15Val
ENST00000398417.6:c.44C>T	ENSP00000381452.1:p.Ala15Val
ENST00000588256.1:n.505C>T
ENST00000588745.5:c.44C>T	ENSP00000464901.1:p.Ala15Val
ENST00000588860.5:c.44C>T	ENSP00000465878.1:p.Ala15Val
ENST00000589076.5:c.44C>T	ENSP00000466934.1:p.Ala15Val
ENST00000589941.1:c.44C>T	ENSP00000465874.1:p.Ala15Val
ENST00000590061.1:c.44C>T	ENSP00000464772.1:p.Ala15Val
ENST00000590722.2:c.*67C>T	ENSP00000465737.1:n.*67C>T
ENST00000591914.5:c.44C>T	ENSP00000466941.1:p.Ala15Val
ENST00000592186.5:c.44C>T	ENSP00000468611.1:p.Ala15Val
ENST00000592911.5:n.28-1596C>T
NM_005359.5:c.44C>T , LRG_318t1:c.44C>T	NP_005350.1:p.Ala15Val
NM_005359.6:c.44C>T MANE Select	NP_005350.1:p.Ala15Val