Canonical Allele Identifier: CA10641658

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 327105
• ClinVar RCV Id: RCV000278675 ; RCV000352317 ; RCV000399867
• dbSNP Id: rs886053889
• MyVariant Identifiers: chr18:g.48556808C>A (hg19) ; chr18:g.51030438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51030438C>A , CM000680.2:g.51030438C>A	GRCh38
NC_000018.9:g.48556808C>A , CM000680.1:g.48556808C>A	GRCh37
NC_000018.8:g.46810806C>A	NCBI36
NG_013013.2:g.67399C>A , LRG_318:g.67399C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-128+1773C>A	ENSP00000465878.2:n.-128+1773C>A
ENST00000589076.6:c.-128+162C>A	ENSP00000466934.2:n.-128+162C>A
ENST00000589941.2:c.-478C>A	ENSP00000465874.2:n.-478C>A
ENST00000590061.2:c.-60+162C>A	ENSP00000464772.2:n.-60+162C>A
ENST00000593223.2:c.-313C>A	ENSP00000466118.2:n.-313C>A
ENST00000342988.8:c.-313C>A MANE Select	ENSP00000341551.3:n.-313C>A
ENST00000342988.7:c.-313C>A	ENSP00000341551.3:n.-313C>A
ENST00000398417.6:c.-128+694C>A	ENSP00000381452.1:n.-128+694C>A
ENST00000588256.1:n.335-16482C>A
ENST00000588860.5:c.-128+1773C>A	ENSP00000465878.1:n.-128+1773C>A
ENST00000589076.5:c.-128+162C>A	ENSP00000466934.1:n.-128+162C>A
ENST00000590061.1:c.-60+162C>A	ENSP00000464772.1:n.-60+162C>A
ENST00000590722.2:c.158-16482C>A	ENSP00000465737.1:n.158-16482C>A
ENST00000591914.5:c.-313C>A	ENSP00000466941.1:n.-313C>A
NM_005359.5:c.-313C>A , LRG_318t1:c.-313C>A	NP_005350.1:n.-313C>A
XR_935468.2:n.42G>T
NM_005359.6:c.-313C>A MANE Select	NP_005350.1:n.-313C>A