Canonical Allele Identifier: CA402466002

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1774939
• ClinVar RCV Id: RCV002403263 ; RCV004059035
• COSMIC: COSM14143
• MyVariant Identifiers: chr18:g.48604724C>T (hg19) ; chr18:g.51078354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078354C>T , CM000680.2:g.51078354C>T	GRCh38
NC_000018.9:g.48604724C>T , CM000680.1:g.48604724C>T	GRCh37
NC_000018.8:g.46858722C>T	NCBI36
NG_013013.2:g.115315C>T , LRG_318:g.115315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1546C>T	ENSP00000465878.2:p.Gln516Ter
ENST00000589076.6:c.1546C>T	ENSP00000466934.2:p.Gln516Ter
ENST00000589941.2:c.1546C>T	ENSP00000465874.2:p.Gln516Ter
ENST00000590061.2:c.1546C>T	ENSP00000464772.2:p.Gln516Ter
ENST00000593223.2:c.*1543C>T	ENSP00000466118.2:n.*1543C>T
ENST00000611848.2:c.*198C>T	ENSP00000478613.2:n.*198C>T
ENST00000684953.1:n.3561C>T
ENST00000685090.1:n.3476C>T
ENST00000685232.1:n.1767C>T
ENST00000688574.1:n.1654C>T
ENST00000691124.1:n.4507C>T
ENST00000342988.8:c.1546C>T MANE Select	ENSP00000341551.3:p.Gln516Ter
ENST00000342988.7:c.1546C>T	ENSP00000341551.3:p.Gln516Ter
ENST00000398417.6:c.1546C>T	ENSP00000381452.1:p.Gln516Ter
ENST00000586253.1:n.268C>T
ENST00000588745.5:c.1258C>T	ENSP00000464901.1:p.Gln420Ter
ENST00000591126.5:n.3547C>T
ENST00000592186.5:c.1193C>T	ENSP00000468611.1:n.1193C>T
ENST00000611848.1:c.859C>T
NM_005359.5:c.1546C>T , LRG_318t1:c.1546C>T	NP_005350.1:p.Gln516Ter
NM_005359.6:c.1546C>T MANE Select	NP_005350.1:p.Gln516Ter