Canonical Allele Identifier: CA402464718

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 822243
• ClinVar RCV Id: RCV002327230
• dbSNP Id: rs1599196916
• MyVariant Identifiers: chr18:g.48593393C>T (hg19) ; chr18:g.51067023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067023C>T , CM000680.2:g.51067023C>T	GRCh38
NC_000018.9:g.48593393C>T , CM000680.1:g.48593393C>T	GRCh37
NC_000018.8:g.46847391C>T	NCBI36
NG_013013.2:g.103984C>T , LRG_318:g.103984C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1144C>T	ENSP00000465878.2:p.His382Tyr
ENST00000589076.6:c.1144C>T	ENSP00000466934.2:p.His382Tyr
ENST00000589941.2:c.1144C>T	ENSP00000465874.2:p.His382Tyr
ENST00000590061.2:c.1144C>T	ENSP00000464772.2:p.His382Tyr
ENST00000593223.2:c.1144C>T	ENSP00000466118.2:p.His382Tyr
ENST00000611848.2:c.1144C>T	ENSP00000478613.2:p.His382Tyr
ENST00000684953.1:n.2516C>T
ENST00000685090.1:n.1595C>T
ENST00000685232.1:n.1252C>T
ENST00000688574.1:n.1252C>T
ENST00000691124.1:n.2626C>T
ENST00000342988.8:c.1144C>T MANE Select	ENSP00000341551.3:p.His382Tyr
ENST00000342988.7:c.1144C>T	ENSP00000341551.3:p.His382Tyr
ENST00000398417.6:c.1144C>T	ENSP00000381452.1:p.His382Tyr
ENST00000588745.5:c.856C>T	ENSP00000464901.1:p.His286Tyr
ENST00000590499.1:n.202C>T
ENST00000591126.5:n.3145C>T
ENST00000592186.5:c.955+7107C>T	ENSP00000468611.1:n.955+7107C>T
ENST00000611848.1:c.344C>T
NM_005359.5:c.1144C>T , LRG_318t1:c.1144C>T	NP_005350.1:p.His382Tyr
NM_005359.6:c.1144C>T MANE Select	NP_005350.1:p.His382Tyr