Canonical Allele Identifier: CA503874009

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1774609
• ClinVar RCV Id: RCV002402958
• dbSNP Id: rs1568211560
• MyVariant Identifiers: chr18:g.48604708A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078338A>T , CM000680.2:g.51078338A>T	GRCh38
NC_000018.9:g.48604708A>T , CM000680.1:g.48604708A>T	GRCh37
NC_000018.8:g.46858706A>T	NCBI36
NG_013013.2:g.115299A>T , LRG_318:g.115299A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1530A>T	ENSP00000465878.2:p.Gly510=
ENST00000589076.6:c.1530A>T	ENSP00000466934.2:p.Gly510=
ENST00000589941.2:c.1530A>T	ENSP00000465874.2:p.Gly510=
ENST00000590061.2:c.1530A>T	ENSP00000464772.2:p.Gly510=
ENST00000593223.2:c.*1527A>T	ENSP00000466118.2:n.*1527A>T
ENST00000611848.2:c.*182A>T	ENSP00000478613.2:n.*182A>T
ENST00000684953.1:n.3545A>T
ENST00000685090.1:n.3460A>T
ENST00000685232.1:n.1751A>T
ENST00000688574.1:n.1638A>T
ENST00000691124.1:n.4491A>T
ENST00000342988.8:c.1530A>T MANE Select	ENSP00000341551.3:p.Gly510=
ENST00000342988.7:c.1530A>T	ENSP00000341551.3:p.Gly510=
ENST00000398417.6:c.1530A>T	ENSP00000381452.1:p.Gly510=
ENST00000586253.1:n.252A>T
ENST00000588745.5:c.1242A>T	ENSP00000464901.1:p.Gly414=
ENST00000591126.5:n.3531A>T
ENST00000592186.5:c.1177A>T	ENSP00000468611.1:n.1177A>T
ENST00000611848.1:c.843A>T
NM_005359.5:c.1530A>T , LRG_318t1:c.1530A>T	NP_005350.1:p.Gly510=
NM_005359.6:c.1530A>T MANE Select	NP_005350.1:p.Gly510=