Canonical Allele Identifier: CA402458160

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 489018
• ClinVar RCV Id: RCV000578818 ; RCV002529046 ; RCV004024594
• dbSNP Id: rs1555685142
• COSMIC: COSM1157836
• MyVariant Identifiers: chr18:g.48575054A>G (hg19) ; chr18:g.51048684A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51048684A>G , CM000680.2:g.51048684A>G	GRCh38
NC_000018.9:g.48575054A>G , CM000680.1:g.48575054A>G	GRCh37
NC_000018.8:g.46829052A>G	NCBI36
NG_013013.2:g.85645A>G , LRG_318:g.85645A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.250-2A>G	ENSP00000465878.2:n.250-2A>G
ENST00000589076.6:c.250-2A>G	ENSP00000466934.2:n.250-2A>G
ENST00000589941.2:c.250-2A>G	ENSP00000465874.2:n.250-2A>G
ENST00000590061.2:c.250-2A>G	ENSP00000464772.2:n.250-2A>G
ENST00000593223.2:c.250-2A>G	ENSP00000466118.2:n.250-2A>G
ENST00000611848.2:c.250-2A>G	ENSP00000478613.2:n.250-2A>G
ENST00000342988.8:c.250-2A>G MANE Select	ENSP00000341551.3:n.250-2A>G
ENST00000342988.7:c.250-2A>G	ENSP00000341551.3:n.250-2A>G
ENST00000398417.6:c.250-2A>G	ENSP00000381452.1:n.250-2A>G
ENST00000588745.5:c.250-2A>G	ENSP00000464901.1:n.250-2A>G
ENST00000588860.5:c.250-2A>G	ENSP00000465878.1:n.250-2A>G
ENST00000589076.5:c.250-2A>G	ENSP00000466934.1:n.250-2A>G
ENST00000589706.1:n.118-2A>G
ENST00000589941.1:c.250-2A>G	ENSP00000465874.1:n.250-2A>G
ENST00000590061.1:c.250-2A>G	ENSP00000464772.1:n.250-2A>G
ENST00000590722.2:c.*273-2A>G	ENSP00000465737.1:n.*273-2A>G
ENST00000591914.5:c.250-2A>G	ENSP00000466941.1:n.250-2A>G
ENST00000592186.5:c.250-2A>G	ENSP00000468611.1:n.250-2A>G
ENST00000592911.5:n.28-2A>G
NM_005359.5:c.250-2A>G , LRG_318t1:c.250-2A>G	NP_005350.1:n.250-2A>G
NM_005359.6:c.250-2A>G MANE Select	NP_005350.1:n.250-2A>G