Canonical Allele Identifier: CA402465833

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144478470
• MyVariant Identifiers: chr18:g.48604680T>A (hg19) ; chr18:g.51078310T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078310T>A , CM000680.2:g.51078310T>A	GRCh38
NC_000018.9:g.48604680T>A , CM000680.1:g.48604680T>A	GRCh37
NC_000018.8:g.46858678T>A	NCBI36
NG_013013.2:g.115271T>A , LRG_318:g.115271T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1502T>A	ENSP00000465878.2:p.Leu501His
ENST00000589076.6:c.1502T>A	ENSP00000466934.2:p.Leu501His
ENST00000589941.2:c.1502T>A	ENSP00000465874.2:p.Leu501His
ENST00000590061.2:c.1502T>A	ENSP00000464772.2:p.Leu501His
ENST00000593223.2:c.*1499T>A	ENSP00000466118.2:n.*1499T>A
ENST00000611848.2:c.*154T>A	ENSP00000478613.2:n.*154T>A
ENST00000684953.1:n.3517T>A
ENST00000685090.1:n.3432T>A
ENST00000685232.1:n.1723T>A
ENST00000688574.1:n.1610T>A
ENST00000691124.1:n.4463T>A
ENST00000342988.8:c.1502T>A MANE Select	ENSP00000341551.3:p.Leu501His
ENST00000342988.7:c.1502T>A	ENSP00000341551.3:p.Leu501His
ENST00000398417.6:c.1502T>A	ENSP00000381452.1:p.Leu501His
ENST00000586253.1:n.224T>A
ENST00000588745.5:c.1214T>A	ENSP00000464901.1:p.Leu405His
ENST00000591126.5:n.3503T>A
ENST00000592186.5:c.1149T>A	ENSP00000468611.1:n.1149T>A
ENST00000611848.1:c.815T>A
NM_005359.5:c.1502T>A , LRG_318t1:c.1502T>A	NP_005350.1:p.Leu501His
NM_005359.6:c.1502T>A MANE Select	NP_005350.1:p.Leu501His