Canonical Allele Identifier: CA402457386

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144400546
• MyVariant Identifiers: chr18:g.48573466T>A (hg19) ; chr18:g.51047096T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047096T>A , CM000680.2:g.51047096T>A	GRCh38
NC_000018.9:g.48573466T>A , CM000680.1:g.48573466T>A	GRCh37
NC_000018.8:g.46827464T>A	NCBI36
NG_013013.2:g.84057T>A , LRG_318:g.84057T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.50T>A	ENSP00000465878.2:p.Leu17Gln
ENST00000589076.6:c.50T>A	ENSP00000466934.2:p.Leu17Gln
ENST00000589941.2:c.50T>A	ENSP00000465874.2:p.Leu17Gln
ENST00000590061.2:c.50T>A	ENSP00000464772.2:p.Leu17Gln
ENST00000593223.2:c.50T>A	ENSP00000466118.2:p.Leu17Gln
ENST00000611848.2:c.50T>A	ENSP00000478613.2:p.Leu17Gln
ENST00000342988.8:c.50T>A MANE Select	ENSP00000341551.3:p.Leu17Gln
ENST00000342988.7:c.50T>A	ENSP00000341551.3:p.Leu17Gln
ENST00000398417.6:c.50T>A	ENSP00000381452.1:p.Leu17Gln
ENST00000588256.1:n.511T>A
ENST00000588745.5:c.50T>A	ENSP00000464901.1:p.Leu17Gln
ENST00000588860.5:c.50T>A	ENSP00000465878.1:p.Leu17Gln
ENST00000589076.5:c.50T>A	ENSP00000466934.1:p.Leu17Gln
ENST00000589941.1:c.50T>A	ENSP00000465874.1:p.Leu17Gln
ENST00000590061.1:c.50T>A	ENSP00000464772.1:p.Leu17Gln
ENST00000590722.2:c.*73T>A	ENSP00000465737.1:n.*73T>A
ENST00000591914.5:c.50T>A	ENSP00000466941.1:p.Leu17Gln
ENST00000592186.5:c.50T>A	ENSP00000468611.1:p.Leu17Gln
ENST00000592911.5:n.28-1590T>A
NM_005359.5:c.50T>A , LRG_318t1:c.50T>A	NP_005350.1:p.Leu17Gln
NM_005359.6:c.50T>A MANE Select	NP_005350.1:p.Leu17Gln