Canonical Allele Identifier: CA402458160
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 489018
dbSNP Id: rs1555685142

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