Canonical Allele Identifier: CA300088756

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1618111
• ClinVar RCV Id: RCV002093834
• dbSNP Id: rs762637015
• MyVariant Identifiers: chr18:g.48604681C>T (hg19) ; chr18:g.51078311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078311C>T , CM000680.2:g.51078311C>T	GRCh38
NC_000018.9:g.48604681C>T , CM000680.1:g.48604681C>T	GRCh37
NC_000018.8:g.46858679C>T	NCBI36
NG_013013.2:g.115272C>T , LRG_318:g.115272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1503C>T	ENSP00000465878.2:p.Leu501=
ENST00000589076.6:c.1503C>T	ENSP00000466934.2:p.Leu501=
ENST00000589941.2:c.1503C>T	ENSP00000465874.2:p.Leu501=
ENST00000590061.2:c.1503C>T	ENSP00000464772.2:p.Leu501=
ENST00000593223.2:c.*1500C>T	ENSP00000466118.2:n.*1500C>T
ENST00000611848.2:c.*155C>T	ENSP00000478613.2:n.*155C>T
ENST00000684953.1:n.3518C>T
ENST00000685090.1:n.3433C>T
ENST00000685232.1:n.1724C>T
ENST00000688574.1:n.1611C>T
ENST00000691124.1:n.4464C>T
ENST00000342988.8:c.1503C>T MANE Select	ENSP00000341551.3:p.Leu501=
ENST00000342988.7:c.1503C>T	ENSP00000341551.3:p.Leu501=
ENST00000398417.6:c.1503C>T	ENSP00000381452.1:p.Leu501=
ENST00000586253.1:n.225C>T
ENST00000588745.5:c.1215C>T	ENSP00000464901.1:p.Leu405=
ENST00000591126.5:n.3504C>T
ENST00000592186.5:c.1150C>T	ENSP00000468611.1:n.1150C>T
ENST00000611848.1:c.816C>T
NM_005359.5:c.1503C>T , LRG_318t1:c.1503C>T	NP_005350.1:p.Leu501=
NM_005359.6:c.1503C>T MANE Select	NP_005350.1:p.Leu501=