Canonical Allele Identifier: CA8965906
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 460567
dbSNP Id: rs775484792

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51058331A>C , CM000680.2:g.51058331A>C GRCh38
NC_000018.9:g.48584701A>C , CM000680.1:g.48584701A>C GRCh37
NC_000018.8:g.46838699A>C NCBI36
NG_013013.2:g.95292A>C , LRG_318:g.95292A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.788-9A>C ENSP00000465878.2:n.788-9A>C
ENST00000589076.6:c.788-9A>C ENSP00000466934.2:n.788-9A>C
ENST00000589941.2:c.788-9A>C ENSP00000465874.2:n.788-9A>C
ENST00000590061.2:c.788-9A>C ENSP00000464772.2:n.788-9A>C
ENST00000593223.2:c.788-9A>C ENSP00000466118.2:n.788-9A>C
ENST00000611848.2:c.788-9A>C ENSP00000478613.2:n.788-9A>C
ENST00000684953.1:n.2160-9A>C
ENST00000685232.1:n.896-9A>C
ENST00000688307.1:n.156-1535A>C
ENST00000688574.1:n.896-9A>C
ENST00000688903.1:n.1002-9A>C
ENST00000690892.1:n.896-9A>C
ENST00000342988.8:c.788-9A>C MANE Select ENSP00000341551.3:n.788-9A>C
ENST00000342988.7:c.788-9A>C ENSP00000341551.3:n.788-9A>C
ENST00000398417.6:c.788-9A>C ENSP00000381452.1:n.788-9A>C
ENST00000588745.5:c.667+3338A>C ENSP00000464901.1:n.667+3338A>C
ENST00000591126.5:n.2789-9A>C
ENST00000592186.5:c.788-9A>C ENSP00000468611.1:n.788-9A>C
NM_005359.5:c.788-9A>C , LRG_318t1:c.788-9A>C NP_005350.1:n.788-9A>C
NM_005359.6:c.788-9A>C MANE Select NP_005350.1:n.788-9A>C