Canonical Allele Identifier: CA2301970011
Community Standard Title: NM_005904.4(SMAD7):c.1206C= (p.Gly402=)
Gene: SMAD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.48921447G= , CM000680.2:g.48921447G= GRCh38
NC_000018.9:g.46447817G= , CM000680.1:g.46447817G= GRCh37
NC_000018.8:g.44701815G= NCBI36
NG_023330.1:g.34265C=

Transcript Alleles

HGVS Amino-acid Change
NM_005904.4:c.1206C= MANE Select NP_005895.1:p.Gly402=
ENST00000262158.8:c.1206C= MANE Select ENSP00000262158.2:p.Gly402=
NM_001190821.1:c.1203C= NP_001177750.1:p.Gly401=
NM_001190821.2:c.1203C= NP_001177750.1:p.Gly401=
NM_001190822.1:c.561C= NP_001177751.1:p.Gly187=
NM_001190822.2:c.561C= NP_001177751.1:p.Gly187=
NM_001190823.1:c.642C= NP_001177752.1:p.Gly214=
NM_001190823.2:c.642C= NP_001177752.1:p.Gly214=
NM_005904.3:c.1206C= NP_005895.1:p.Gly402=
ENST00000262158.6:c.1206C= ENSP00000262158.2:p.Gly402=
ENST00000262158.7:c.1206C= ENSP00000262158.2:p.Gly402=
ENST00000545051.2:n.791C=
ENST00000587336.1:n.513C=
ENST00000589634.1:c.1203C= ENSP00000467621.1:p.Gly401=
ENST00000591805.5:c.561C= ENSP00000466902.1:p.Gly187=