Canonical Allele Identifier: CA402460624

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1948322
• ClinVar RCV Id: RCV002685727
• dbSNP Id: rs1909795433
• MyVariant Identifiers: chr18:g.48581172A>T (hg19) ; chr18:g.51054802A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51054802A>T , CM000680.2:g.51054802A>T	GRCh38
NC_000018.9:g.48581172A>T , CM000680.1:g.48581172A>T	GRCh37
NC_000018.8:g.46835170A>T	NCBI36
NG_013013.2:g.91763A>T , LRG_318:g.91763A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.476A>T	ENSP00000465878.2:p.Lys159Met
ENST00000589076.6:c.476A>T	ENSP00000466934.2:p.Lys159Met
ENST00000589941.2:c.476A>T	ENSP00000465874.2:p.Lys159Met
ENST00000590061.2:c.476A>T	ENSP00000464772.2:p.Lys159Met
ENST00000593223.2:c.476A>T	ENSP00000466118.2:p.Lys159Met
ENST00000611848.2:c.476A>T	ENSP00000478613.2:p.Lys159Met
ENST00000684953.1:n.1848A>T
ENST00000342988.8:c.476A>T MANE Select	ENSP00000341551.3:p.Lys159Met
ENST00000342988.7:c.476A>T	ENSP00000341551.3:p.Lys159Met
ENST00000398417.6:c.476A>T	ENSP00000381452.1:p.Lys159Met
ENST00000585448.1:n.345A>T
ENST00000588745.5:c.476A>T	ENSP00000464901.1:p.Lys159Met
ENST00000590722.2:c.*652A>T	ENSP00000465737.1:n.*652A>T
ENST00000591126.5:n.2477A>T
ENST00000592186.5:c.476A>T	ENSP00000468611.1:p.Lys159Met
ENST00000592911.5:n.254A>T
NM_005359.5:c.476A>T , LRG_318t1:c.476A>T	NP_005350.1:p.Lys159Met
NM_005359.6:c.476A>T MANE Select	NP_005350.1:p.Lys159Met