Canonical Allele Identifier: CA300089023

Gene: SMAD4

Linked Data

• dbSNP Id: rs767288576
• MyVariant Identifiers: chr18:g.48604867A>T (hg19) ; chr18:g.51078497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078497A>T , CM000680.2:g.51078497A>T	GRCh38
NC_000018.9:g.48604867A>T , CM000680.1:g.48604867A>T	GRCh37
NC_000018.8:g.46858865A>T	NCBI36
NG_013013.2:g.115458A>T , LRG_318:g.115458A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*30A>T	ENSP00000465878.2:n.*30A>T
ENST00000589076.6:c.*30A>T	ENSP00000466934.2:n.*30A>T
ENST00000589941.2:c.*30A>T	ENSP00000465874.2:n.*30A>T
ENST00000590061.2:c.*30A>T	ENSP00000464772.2:n.*30A>T
ENST00000593223.2:c.*1686A>T	ENSP00000466118.2:n.*1686A>T
ENST00000611848.2:c.*341A>T	ENSP00000478613.2:n.*341A>T
ENST00000684953.1:n.3704A>T
ENST00000685090.1:n.3619A>T
ENST00000685232.1:n.1910A>T
ENST00000688574.1:n.1797A>T
ENST00000691124.1:n.4650A>T
ENST00000342988.8:c.*30A>T MANE Select	ENSP00000341551.3:n.*30A>T
ENST00000342988.7:c.*30A>T	ENSP00000341551.3:n.*30A>T
ENST00000398417.6:c.*30A>T	ENSP00000381452.1:n.*30A>T
ENST00000586253.1:n.411A>T
ENST00000591126.5:n.3690A>T
ENST00000611848.1:c.1002A>T
NM_005359.5:c.*30A>T , LRG_318t1:c.*30A>T	NP_005350.1:n.*30A>T
NM_005359.6:c.*30A>T MANE Select	NP_005350.1:n.*30A>T