Canonical Allele Identifier: CA503873103
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs779811141
MyVariant Identifiers: chr18:g.48573320C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51046950C>A , CM000680.2:g.51046950C>A GRCh38
NC_000018.9:g.48573320C>A , CM000680.1:g.48573320C>A GRCh37
NC_000018.8:g.46827318C>A NCBI36
NG_013013.2:g.83911C>A , LRG_318:g.83911C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.-97C>A ENSP00000465878.2:n.-97C>A
ENST00000589076.6:c.-97C>A ENSP00000466934.2:n.-97C>A
ENST00000589941.2:c.-97C>A ENSP00000465874.2:n.-97C>A
ENST00000590061.2:c.-59-38C>A ENSP00000464772.2:n.-59-38C>A
ENST00000593223.2:c.-97C>A ENSP00000466118.2:n.-97C>A
ENST00000611848.2:c.-97C>A ENSP00000478613.2:n.-97C>A
ENST00000342988.8:c.-97C>A MANE Select ENSP00000341551.3:n.-97C>A
ENST00000342988.7:c.-97C>A ENSP00000341551.3:n.-97C>A
ENST00000398417.6:c.-97C>A ENSP00000381452.1:n.-97C>A
ENST00000588256.1:n.365C>A
ENST00000588860.5:c.-97C>A ENSP00000465878.1:n.-97C>A
ENST00000589076.5:c.-97C>A ENSP00000466934.1:n.-97C>A
ENST00000589941.1:c.-97C>A ENSP00000465874.1:n.-97C>A
ENST00000590061.1:c.-59-38C>A ENSP00000464772.1:n.-59-38C>A
ENST00000590722.2:c.188C>A ENSP00000465737.1:p.Pro63His
ENST00000591914.5:c.-97C>A ENSP00000466941.1:n.-97C>A
ENST00000592911.5:n.28-1736C>A
NM_005359.5:c.-97C>A , LRG_318t1:c.-97C>A NP_005350.1:n.-97C>A
NM_005359.6:c.-97C>A MANE Select NP_005350.1:n.-97C>A