Canonical Allele Identifier: CA402463342
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 529933
dbSNP Id: rs1343555503

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51058364G>A , CM000680.2:g.51058364G>A GRCh38
NC_000018.9:g.48584734G>A , CM000680.1:g.48584734G>A GRCh37
NC_000018.8:g.46838732G>A NCBI36
NG_013013.2:g.95325G>A , LRG_318:g.95325G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.812G>A ENSP00000465878.2:p.Ser271Asn
ENST00000589076.6:c.812G>A ENSP00000466934.2:p.Ser271Asn
ENST00000589941.2:c.812G>A ENSP00000465874.2:p.Ser271Asn
ENST00000590061.2:c.812G>A ENSP00000464772.2:p.Ser271Asn
ENST00000593223.2:c.812G>A ENSP00000466118.2:p.Ser271Asn
ENST00000611848.2:c.812G>A ENSP00000478613.2:p.Ser271Asn
ENST00000684953.1:n.2184G>A
ENST00000685232.1:n.920G>A
ENST00000688307.1:n.156-1502G>A
ENST00000688574.1:n.920G>A
ENST00000688903.1:n.1026G>A
ENST00000690892.1:n.920G>A
ENST00000342988.8:c.812G>A MANE Select ENSP00000341551.3:p.Ser271Asn
ENST00000342988.7:c.812G>A ENSP00000341551.3:p.Ser271Asn
ENST00000398417.6:c.812G>A ENSP00000381452.1:p.Ser271Asn
ENST00000588745.5:c.667+3371G>A ENSP00000464901.1:n.667+3371G>A
ENST00000591126.5:n.2813G>A
ENST00000592186.5:c.812G>A ENSP00000468611.1:p.Ser271Asn
ENST00000611848.1:c.12G>A
NM_005359.5:c.812G>A , LRG_318t1:c.812G>A NP_005350.1:p.Ser271Asn
NM_005359.6:c.812G>A MANE Select NP_005350.1:p.Ser271Asn